Hákon Hákonarson
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Icelandic genomics researcher and physician
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(Suggest an Edit or Addition)According to Wikipedia, Hákon Hákonarson is an Icelandic genomics researcher and physician. He is the founder and director of the Center for Applied Genomics, endowed chair in genomics at the Children's Hospital of Philadelphia, and a professor of pediatrics at the Perelman School of Medicine at the University of Pennsylvania.
Hákon Hákonarson 's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data (2010) (9955)
- Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease (2012) (4007)
- Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease (2013) (3484)
- Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci (2010) (2516)
- Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis (2011) (2511)
- Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs (2013) (2011)
- Functional impact of global rare copy number variation in autism spectrum disorders (2010) (1891)
- PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. (2007) (1699)
- Common variants in MS4A4/MS4A6E, CD2uAP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease (2011) (1656)
- Analysis of shared heritability in common disorders of the brain (2016) (1385)
- Autism genome-wide copy number variation reveals ubiquitin and neuronal genes (2009) (1364)
- An improved framework for confound regression and filtering for control of motion artifact in the preprocessing of resting-state functional connectivity data (2013) (1336)
- Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 (2011) (1315)
- Identification of ALK as a major familial neuroblastoma predisposition gene (2008) (1285)
- Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder (2018) (1248)
- Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease (2014) (1230)
- Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis (2013) (1170)
- Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants (2009) (1100)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (1073)
- Impact of in-scanner head motion on multiple measures of functional connectivity: Relevance for studies of neurodevelopment in youth (2012) (994)
- Common genetic variants on 5p14.1 associate with autism spectrum disorders (2009) (970)
- Sex differences in the structural connectome of the human brain (2013) (961)
- The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke (2004) (960)
- Rare Variants Create Synthetic Genome-Wide Associations (2010) (893)
- The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis (2012) (864)
- Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders (2014) (814)
- Analysing biological pathways in genome-wide association studies (2010) (783)
- De novo mutations in histone modifying genes in congenital heart disease (2013) (740)
- Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders (2019) (724)
- Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) (693)
- Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) (676)
- Meta-analysis and imputation refines the association of 15q25 with smoking quantity (2010) (605)
- The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future (2013) (596)
- Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility (2019) (589)
- A genome-wide scan for common alleles affecting risk for autism (2010) (567)
- HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials (2015) (559)
- Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study (2016) (555)
- A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene (2007) (551)
- A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium (2009) (551)
- Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data (2014) (547)
- Identification of common variants influencing risk of the tauopathy Progressive Supranuclear Palsy (2011) (481)
- Common variants at five new loci associated with early-onset inflammatory bowel disease (2009) (479)
- A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations (2013) (478)
- Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions (2010) (475)
- Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. (2010) (459)
- Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing (2013) (455)
- Mapping the human genetic architecture of COVID-19 (2021) (455)
- Age group and sex differences in performance on a computerized neurocognitive battery in children age 8-21. (2012) (436)
- Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. (2010) (426)
- Genetic Variants Influencing Circulating Lipid Levels and Risk of Coronary Artery Disease (2010) (417)
- Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies (2008) (416)
- Neuroimaging of the Philadelphia Neurodevelopmental Cohort (2014) (414)
- The Genetics of Autism Spectrum Disorders (2011) (409)
- Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. (2011) (401)
- Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes (2009) (400)
- Common variants at 5q22 associate with pediatric eosinophilic esophagitis (2010) (393)
- Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function (2016) (388)
- A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction (2006) (383)
- Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. (2010) (381)
- A genome-wide association meta-analysis identifies new childhood obesity loci (2012) (375)
- Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review. (2005) (372)
- Genome-wide associations for birth weight and correlations with adult disease (2016) (371)
- High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. (2009) (368)
- Copy number variation at 1q21.1 associated with neuroblastoma (2009) (364)
- Mapping genomic loci implicates genes and synaptic biology in schizophrenia (2022) (361)
- A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population (2010) (357)
- Multi-ethnic genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis (2015) (356)
- Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) (346)
- Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes (2010) (346)
- Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder (2011) (337)
- Thymic stromal lymphopoietin–elicited basophil responses promote eosinophilic esophagitis (2013) (336)
- Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer (2009) (336)
- Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms (2008) (327)
- META-ANALYSIS OF GENOME-WIDE ASSOCIATION STUDIES IDENTIFIES THREE NEW RISK LOCI FOR ATOPIC DERMATITIS (2011) (325)
- Variants of DENND1B associated with asthma in children. (2010) (325)
- Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease (2008) (320)
- Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa (2019) (314)
- A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci (2011) (312)
- The landscape of recombination in African Americans (2011) (312)
- Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. (2009) (311)
- Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis (2012) (308)
- Linked Sex Differences in Cognition and Functional Connectivity in Youth. (2015) (305)
- New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism (2012) (300)
- Familial aggregation of atrial fibrillation in Iceland. (2006) (291)
- 137 ancient human genomes from across the Eurasian steppes (2018) (287)
- A genome-wide association study of anorexia nervosa (2014) (284)
- PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study (2017) (283)
- Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. (2012) (282)
- Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. (2008) (280)
- Integrative genomics identifies LMO1 as a neuroblastoma oncogene (2011) (280)
- Common variants at MS 4 A 4 / MS 4 A 6 E , CD 2 AP , CD 33 and EPHA 1 are associated with late-onset Alzheimer ’ s disease (2011) (274)
- A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. (2009) (273)
- Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors (2018) (269)
- Common variations in BARD1 influence susceptibility to high-risk neuroblastoma (2009) (268)
- Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. (2009) (268)
- Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases (2016) (266)
- SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data (2011) (255)
- A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. (2010) (254)
- Distinct features of SARS-CoV-2-specific IgA response in COVID-19 patients (2020) (252)
- High density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis (2014) (250)
- Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight (2010) (250)
- Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. (2012) (250)
- RAD21 mutations cause a human cohesinopathy. (2012) (247)
- Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. (2016) (245)
- Association between the gene encoding 5-lipoxygenase-activating protein and stroke replicated in a Scottish population. (2005) (245)
- Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3 (2012) (245)
- A Meta-Analysis Identifies New Loci Associated with Body Mass index in Individuals of African Ancestry (2013) (244)
- The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth (2016) (244)
- Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism (2015) (241)
- Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. (2012) (238)
- Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes (2009) (236)
- Psychometric properties of the Penn Computerized Neurocognitive Battery. (2015) (233)
- Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. (2011) (233)
- Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma (2012) (232)
- Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming (2014) (231)
- Discovery of the first genome-wide significant risk loci for ADHD (2017) (229)
- Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease (2011) (228)
- Duplication of 7q34 in Pediatric Low‐Grade Astrocytomas Detected by High‐Density Single‐Nucleotide Polymorphism‐Based Genotype Arrays Results in a Novel BRAF Fusion Gene (2009) (227)
- From Disease Association to Risk Assessment: An Optimistic View from Genome-Wide Association Studies on Type 1 Diabetes (2009) (226)
- Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies (2014) (222)
- Effects of a 5-lipoxygenase-activating protein inhibitor on biomarkers associated with risk of myocardial infarction: a randomized trial. (2005) (221)
- Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight. (2016) (214)
- Heterogeneous impact of motion on fundamental patterns of developmental changes in functional connectivity during youth (2013) (213)
- Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies (2018) (213)
- Strong synaptic transmission impact by copy number variations in schizophrenia (2010) (213)
- A Genome-Wide Association Study on Obesity and Obesity-Related Traits (2011) (210)
- The Role of Obesity‐associated Loci Identified in Genome‐wide Association Studies in the Determination of Pediatric BMI (2009) (209)
- Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder (2015) (206)
- Association Analysis of the FTO Gene with Obesity in Children of Caucasian and African Ancestry Reveals a Common Tagging SNP (2008) (204)
- Neurocognitive growth charting in psychosis spectrum youths. (2014) (201)
- Functional Maturation of the Executive System during Adolescence (2013) (201)
- Causal effects of body mass index on cardiometabolic traits and events: a Mendelian randomization analysis. (2014) (198)
- Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data (2014) (197)
- A genome-wide association study on African-ancestry populations for asthma. (2010) (196)
- Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study (2019) (194)
- The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative. (2015) (194)
- Age-Related Effects and Sex Differences in Gray Matter Density, Volume, Mass, and Cortical Thickness from Childhood to Young Adulthood (2017) (194)
- Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases (2015) (193)
- Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity (2017) (193)
- Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. (2011) (189)
- A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder (2011) (186)
- APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study (2013) (184)
- Copy-number disorders are a common cause of congenital kidney malformations. (2012) (182)
- A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa (2011) (179)
- Imaging patterns of brain development and their relationship to cognition. (2015) (179)
- Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors. (2009) (179)
- Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism (2012) (178)
- Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. (2010) (177)
- Genome-wide association identifies diverse causes of common variable immunodeficiency. (2011) (176)
- Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals (2019) (176)
- Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. (2013) (176)
- The impact of quality assurance assessment on diffusion tensor imaging outcomes in a large-scale population-based cohort (2016) (175)
- Convergent genetic and expression data implicate immunity in Alzheimer's disease (2014) (172)
- Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A (2013) (172)
- GWAS identifies four novel eosinophilic esophagitis loci (2014) (171)
- The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort (2014) (167)
- Rare structural variation of synapse and neurotransmission genes in autism (2011) (166)
- Interpretation of association signals and identification of causal variants from genome-wide association studies. (2010) (166)
- Common and Dissociable Mechanisms of Executive System Dysfunction Across Psychiatric Disorders in Youth. (2016) (165)
- Profiling of genes expressed in peripheral blood mononuclear cells predicts glucocorticoid sensitivity in asthma patients. (2005) (160)
- Phenotype Restricted Genome-Wide Association Study Using a Gene-Centric Approach Identifies Three Low-Risk Neuroblastoma Susceptibility Loci (2011) (159)
- CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy (2010) (159)
- Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. (2013) (158)
- Genetics (AAGC) (2015). Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis. (2015) (157)
- The Diabetes Susceptibility Gene Clec16a Regulates Mitophagy (2014) (156)
- IL-13-dependent autocrine signaling mediates altered responsiveness of IgE-sensitized airway smooth muscle. (2002) (156)
- Large sample size, wide variant spectrum, and advanced machine-learning technique boost risk prediction for inflammatory bowel disease. (2013) (156)
- Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. (2016) (155)
- Impact of puberty on the evolution of cerebral perfusion during adolescence (2014) (154)
- The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease (2015) (151)
- Follow-Up Analysis of Genome-Wide Association Data Identifies Novel Loci for Type 1 Diabetes (2009) (150)
- Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. (2014) (150)
- A Novel Susceptibility Locus for Type 1 Diabetes on Chr12q13 Identified by a Genome-Wide Association Study (2008) (150)
- Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network (2016) (149)
- Network-based multiple sclerosis pathway analysis with GWAS data from 15,000 cases and 30,000 controls. (2013) (149)
- A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci (2012) (148)
- Loci influencing blood pressure identified using a cardiovascular gene-centric array. (2013) (145)
- Directional dominance on stature and cognition in diverse human populations (2015) (144)
- Mechanism of cytokine-induced modulation of beta-adrenoceptor responsiveness in airway smooth muscle. (1996) (141)
- A Genome-Wide Association Study Identifies LIPA as a Susceptibility Gene for Coronary Artery Disease (2011) (141)
- Leprosy and the Adaptation of Human Toll-Like Receptor 1 (2010) (140)
- Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. (2014) (140)
- Being right is its own reward: Load and performance related ventral striatum activation to correct responses during a working memory task in youth (2012) (140)
- IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes (2018) (139)
- High Loading of Polygenic Risk for ADHD in Children With Comorbid Aggression (2013) (137)
- Genetic correlations among psychiatric and immune‐related phenotypes based on genome‐wide association data (2018) (136)
- A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder (2017) (136)
- Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study (2016) (135)
- Causal Assessment of Serum Urate Levels in Cardiometabolic Diseases Through a Mendelian Randomization Study. (2016) (134)
- Meta-analysis identifies seven susceptibility loci involved in the atopic march (2015) (133)
- A major susceptibility gene for asthma maps to chromosome 14q24. (2002) (133)
- Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. (2011) (133)
- A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. (2011) (133)
- Regulation of TH1- and TH2-type cytokine expression and action in atopic asthmatic sensitized airway smooth muscle. (1999) (132)
- Cntnap4/Caspr4 Differentially Contributes to GABAergic and Dopaminergic Synaptic Transmission (2014) (132)
- GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. (2016) (132)
- Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. (2014) (129)
- The power of genetic diversity in genome-wide association studies of lipids (2021) (129)
- Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains (2017) (128)
- Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics (2018) (126)
- Autocrine interaction between IL-5 and IL-1beta mediates altered responsiveness of atopic asthmatic sensitized airway smooth muscle. (1999) (122)
- ANGPT2 genetic variant is associated with trauma-associated acute lung injury and altered plasma angiopoietin-2 isoform ratio. (2011) (122)
- The copy number variation landscape of congenital anomalies of the kidney and urinary tract (2018) (121)
- Common variants at 12q15 and 12q24 are associated with infant head circumference (2012) (121)
- Common Variants in HSPB7 and FRMD4B Associated With Advanced Heart Failure (2010) (121)
- Genome wide association (GWA) predictors of anti‐TNF&agr; therapeutic responsiveness in pediatric inflammatory bowel disease (2009) (118)
- Structural Brain Abnormalities in Youth With Psychosis Spectrum Symptoms. (2016) (118)
- Contribution of ADAM33 polymorphisms to the population risk of asthma (2005) (113)
- Hyaluronan synthase 3 variant and anthracycline-related cardiomyopathy: a report from the children's oncology group. (2014) (113)
- The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility (2017) (113)
- High rate of disease-related copy number variations in childhood onset schizophrenia (2013) (112)
- Comprehensive analysis of gene expression in human retina and supporting tissues (2014) (112)
- A novel common variant in DCST2 is associated with length in early life and height in adulthood (2014) (112)
- Phasing of many thousands of genotyped samples. (2012) (111)
- Common variants at 6q22 and 17q21 are associated with intracranial volume (2012) (110)
- Connectome-Wide Network Analysis of Youth with Psychosis Spectrum Symptoms (2015) (109)
- Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis (2015) (106)
- Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. (2014) (106)
- Role of BMI‐Associated Loci Identified in GWAS Meta‐Analyses in the Context of Common Childhood Obesity in European Americans (2011) (105)
- Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene. (2013) (105)
- Comorbidity of Physical and Mental Disorders in the Neurodevelopmental Genomics Cohort Study (2015) (105)
- Phenome-wide association studies across large population cohorts support drug target validation (2018) (105)
- Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium (2017) (102)
- Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease. (2017) (100)
- Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility. (2013) (100)
- A genome-wide study reveals copy number variants exclusive to childhood obesity cases. (2010) (100)
- A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn's Disease and Human Gut Microbiome Composition. (2016) (99)
- ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor (2019) (99)
- Autocrine role of interleukin 1beta in altered responsiveness of atopic asthmatic sensitized airway smooth muscle. (1997) (98)
- Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk (2018) (98)
- Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity. (2012) (96)
- Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation (2011) (96)
- A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans. (2014) (95)
- ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry. (2008) (95)
- GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. (2013) (94)
- Rare variants in TP53 and susceptibility to neuroblastoma. (2014) (92)
- Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy (2017) (92)
- Allelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland. (2001) (92)
- Genetic Drivers of Kidney Defects in the DiGeorge Syndrome (2017) (91)
- Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals. (2013) (91)
- Whole‐Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma (2018) (90)
- GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network (2019) (89)
- Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. (2010) (89)
- Genome Wide Association Identifies PPFIA1 as a Candidate Gene for Acute Lung Injury Risk Following Major Trauma (2012) (87)
- Neutral mitochondrial heteroplasmy and the influence of aging. (2011) (87)
- Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. (2011) (87)
- First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes (2018) (87)
- Modeling genetic inheritance of copy number variations (2008) (86)
- Functional neuroimaging abnormalities in youth with psychosis spectrum symptoms. (2015) (84)
- Common Variation in ISL1 Confers Genetic Susceptibility for Human Congenital Heart Disease (2010) (84)
- Practical challenges in integrating genomic data into the electronic health record (2013) (84)
- Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy. (2008) (83)
- Investigation of the Locus Near MC4R With Childhood Obesity in Americans of European and African Ancestry (2009) (83)
- Within-individual variability in neurocognitive performance: age- and sex-related differences in children and youths from ages 8 to 21. (2014) (83)
- Mechanism of rhinovirus-induced changes in airway smooth muscle responsiveness. (1998) (80)
- Common genetic variants in NEFL influence gene expression and neuroblastoma risk. (2014) (79)
- Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement (2013) (79)
- Whole-genome sequencing in an autism multiplex family (2013) (79)
- Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment (2012) (78)
- The novel atherosclerosis locus at 10q11 regulates plasma CXCL12 levels. (2011) (78)
- Sex differences in the effect of puberty on hippocampal morphology. (2014) (78)
- Association Between IL-1 β /TNF- α –Induced Glucocorticoid-Sensitive Changes in Multiple Gene Expression and Altered Responsiveness in Airway Smooth Muscle (2001) (78)
- THE CHILDREN'S HOSPITAL OF PHILADELPHIA. (1955) (78)
- Elevated levels of the IGF-binding protein protease MMP-1 in asthmatic airway smooth muscle. (1999) (77)
- Relative contribution of type 1 and type 2 diabetes loci to the genetic etiology of adult-onset, non-insulin-requiring autoimmune diabetes (2017) (76)
- Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy – Genotypic Overlap with Pseudoxanthoma Elasticum (2013) (76)
- Microarray technology and applications in the arena of genome-wide association. (2008) (76)
- 17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry. (2009) (74)
- Genome-wide association study of therapeutic opioid dosing identifies a novel locus upstream of OPRM1 (2017) (74)
- Altered expression and action of the low-affinity IgE receptor FcϵRII (CD23) in asthmatic airway smooth muscle (1999) (74)
- Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk. (2020) (74)
- Incidental Findings in Youths Volunteering for Brain MRI Research (2013) (73)
- Mechanism of impaired beta-adrenoceptor responsiveness in atopic sensitized airway smooth muscle. (1995) (73)
- Large Copy-Number Variations Are Enriched in Cases With Moderate to Extreme Obesity (2010) (73)
- Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization. (2014) (73)
- Stress and Bronchodilator Response in Children with Asthma. (2015) (71)
- Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population. (2010) (71)
- HLA‐DQ strikes again: Genome‐wide association study further confirms HLA‐DQ in the diagnosis of asthma among adults (2012) (70)
- Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. (2013) (70)
- Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells (2015) (69)
- GDF15 is a heart‐derived hormone that regulates body growth (2017) (69)
- Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn’s disease (2007) (69)
- Identification of Four Novel Loci in Asthma in European American and African American Populations (2017) (69)
- Thymic stromal lymphopoietin-mediated extramedullary hematopoiesis promotes allergic inflammation. (2013) (68)
- Associations of autozygosity with a broad range of human phenotypes (2019) (68)
- Regulation of second messengers associated with airway smooth muscle contraction and relaxation. (1998) (67)
- De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes (2015) (67)
- GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI (2019) (67)
- Examination of Type 2 Diabetes Loci Implicates CDKAL1 as a Birth Weight Gene (2009) (66)
- Genome-wide association study of multiplex schizophrenia pedigrees. (2012) (66)
- Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors (2020) (66)
- Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria (2013) (66)
- Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease. (2007) (65)
- Autologously up-regulated Fc receptor expression and action in airway smooth muscle mediates its altered responsiveness in the atopic asthmatic sensitized state. (1998) (65)
- A saturated map of common genetic variants associated with human height (2022) (65)
- Ranking causal variants and associated regions in genome-wide association studies by the support vector machine and random forest (2011) (64)
- Duplication of the SLIT3 Locus on 5q35.1 Predisposes to Major Depressive Disorder (2010) (64)
- CYP3A4 mutation causes vitamin D–dependent rickets type 3 (2018) (63)
- Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling (2018) (63)
- Multiple testing in genome-wide association studies via hidden Markov models (2009) (63)
- A cross-disorder dosage sensitivity map of the human genome (2021) (63)
- Bi-Directional Activation Between Human Airway Smooth Muscle Cells and T Lymphocytes: Role in Induction of Altered Airway Responsiveness1 (2001) (63)
- deCODE genetics, Inc. (2003) (63)
- Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence (2014) (63)
- Association between polygenic risk for schizophrenia, neurocognition and social cognition across development (2016) (63)
- Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3 (2010) (63)
- Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups. (2020) (62)
- Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population (2013) (62)
- Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications. (2011) (61)
- Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients (2010) (61)
- Familial predisposition and cosegregation analysis of adult obstructive sleep apnea and the sudden infant death syndrome. (2002) (61)
- Common variants at 6q22 and 17q21 are associated with intracranial volume (2012) (61)
- Dominant Form of Congenital Hyperinsulinism Maps to HK1 Region on 10q (2013) (61)
- ParseCNV integrative copy number variation association software with quality tracking (2013) (60)
- Can the genetics of type 1 and type 2 diabetes shed light on the genetics of latent autoimmune diabetes in adults? (2010) (60)
- Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. (2015) (60)
- A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale. (2013) (60)
- Genetic sharing and heritability of paediatric age of onset autoimmune diseases (2015) (59)
- Gene expression and genetic variation in human atria. (2014) (59)
- Genes Involved in Type 1 Diabetes: An Update (2013) (58)
- SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation (2009) (58)
- Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. (2019) (58)
- Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia (2014) (58)
- Replication of Neuroblastoma SNP Association at the BARD1 Locus in African-Americans (2012) (57)
- The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature (2010) (57)
- Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis. (2008) (57)
- Design and Implementation of the International Genetics and Translational Research in Transplantation Network (2015) (56)
- Examination of All Type 2 Diabetes GWAS Loci Reveals HHEX-IDE as a Locus Influencing Pediatric BMI (2009) (56)
- Shared genetic contribution to ischemic stroke and Alzheimer's disease (2016) (55)
- Crohn's disease and genetic hitchhiking at IBD5. (2012) (55)
- Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits (2020) (55)
- AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. (2014) (55)
- Role and regulation of interleukin-1 molecules in pro-asthmatic sensitised airway smooth muscle (2004) (55)
- A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD (2011) (55)
- The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism (2014) (54)
- The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism (2014) (54)
- ATOM: a powerful gene-based association test by combining optimally weighted markers (2009) (54)
- Genetic polymorphisms and associated susceptibility to asthma (2013) (54)
- Src kinase as a mediator of convergent molecular abnormalities leading to NMDAR hypoactivity in schizophrenia (2014) (54)
- Parental ADHD status and its association with proband ADHD subtype and severity. (2010) (53)
- KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (2018) (53)
- Current concepts on the genetics of asthma (2001) (52)
- Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly (2018) (52)
- Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome (2019) (52)
- Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma (2017) (52)
- Psychiatric gene discoveries shape evidence on ADHD's biology (2015) (52)
- A Trans-ancestral Meta-Analysis of Genome-Wide Association Studies Reveals Loci Associated with Childhood Obesity. (2019) (51)
- Genetic Determinants of Pediatric Inflammatory Bowel Disease: Is Age of Onset Genetically Determined? (2009) (51)
- Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations (2012) (51)
- Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk (2019) (51)
- Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. (2014) (50)
- CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations (2017) (49)
- Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival. (2016) (49)
- Fatty-acid binding protein 4 gene polymorphisms and plasma levels in children with obstructive sleep apnea. (2011) (49)
- Polygenic Risk Score for Alzheimer's Disease: Implications for Memory Performance and Hippocampal Volumes in Early Life. (2018) (49)
- TUBB4A de novo mutations cause isolated hypomyelination (2014) (49)
- Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. (2016) (48)
- Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. (2016) (48)
- Remapping the type I diabetes association of the CTLA4 locus (2009) (48)
- CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. (2016) (48)
- The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype (2018) (48)
- Body mass index (BMI) trajectories in infancy differ by population ancestry and may presage disparities in early childhood obesity. (2015) (48)
- Association Analysis of Type 2 Diabetes Loci in Type 1 Diabetes (2008) (48)
- Nocturnal enuresis: a suggestive endophenotype marker for a subgroup of inattentive attention-deficit/hyperactivity disorder. (2009) (47)
- A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF. (2016) (47)
- The genetics of asthma and allergic disorders. (2011) (46)
- A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius. (2015) (46)
- Recent development in genomic and proteomic research for asthma (2004) (46)
- GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus (2013) (46)
- GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus (2013) (46)
- The Role of ARF6 in Biliary Atresia (2015) (46)
- The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort (2014) (46)
- Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies (2015) (46)
- A pleiotropic missense variant in SLC 39 A 8 is associated with Crohn ’ s disease and human gut microbiome composition Short Title : SLC 39 A 8 associated with CD and gut microbiome (2016) (46)
- Non-coding RNA dysregulation in the amygdala region of schizophrenia patients contributes to the pathogenesis of the disease (2018) (46)
- Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders (2017) (46)
- Rhinovirus elicits proasthmatic changes in airway responsiveness independently of viral infection. (2001) (46)
- A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region (2010) (45)
- PCSK 9 genetic variants and risk of type 2 diabetes : a mendelian randomisation study (2020) (45)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (45)
- Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals. (2015) (45)
- Genomic Landscape of a Three-Generation Pedigree Segregating Affective Disorder (2009) (45)
- Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder (2016) (45)
- Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual (2021) (45)
- Translational studies of lipoprotein-associated phospholipase A₂ in inflammation and atherosclerosis. (2012) (45)
- Obesity-susceptibility loci and the tails of the pediatric BMI distribution (2013) (45)
- NOD2 Gene Polymorphism rs2066844 Associates With Need for Combined Liver–Intestine Transplantation in Children With Short-Gut Syndrome (2011) (44)
- Age-at-Onset in Late Onset Alzheimer Disease is Modified by Multiple Genetic Loci (2014) (44)
- Rhinovirus-mediated changes in airway smooth muscle responsiveness: induced autocrine role of interleukin-1β. (1999) (44)
- USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis (2018) (43)
- Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister–Killian syndrome (2012) (43)
- Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations (2020) (43)
- Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies (2009) (42)
- Practical considerations in genomic decision support: The eMERGE experience (2015) (42)
- Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (2021) (42)
- Common variants in polygenic schizophrenia (2009) (42)
- RNA-seq analysis of amygdala tissue reveals characteristic expression profiles in schizophrenia (2017) (41)
- Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program (2020) (41)
- Common variation contributes to the genetic architecture of social communication traits (2013) (41)
- Recent development in pharmacogenomics: from candidate genes to genome-wide association studies (2007) (40)
- Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome (2014) (39)
- Rarity of the Alzheimer disease-protective APP A673T variant in the United States. (2015) (39)
- Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum (2010) (39)
- Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration (2018) (39)
- The Genetic Contribution to Type 1 Diabetes (2019) (39)
- Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients (2020) (39)
- An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males (2011) (38)
- Autocrine regulation of airway smooth muscle responsiveness (2003) (37)
- Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches (2019) (37)
- NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses (2018) (37)
- Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG1 (2018) (37)
- Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A (2009) (37)
- Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders (2017) (36)
- Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders (2017) (36)
- Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population (2014) (36)
- The type I diabetes association of the IL2RA locus (2009) (36)
- Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing (2018) (36)
- Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects (2017) (36)
- Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index (2017) (36)
- Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. (2017) (36)
- Association of Vitamin D Binding Protein Variants with Chronic Mucus Hypersecretion in Iceland (2004) (36)
- Autocrine cytokine signaling mediates effects of rhinovirus on airway responsiveness. (2000) (35)
- Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations (2014) (34)
- Neuroinflammation and EIF2 Signaling Persist despite Antiretroviral Treatment in an hiPSC Tri-culture Model of HIV Infection (2020) (34)
- Using ancestry-informative markers to identify fine structure across 15 populations of European origin (2014) (34)
- Genome‐wide association studies (GWAS): impact on elucidating the aetiology of diabetes (2011) (34)
- Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index (2017) (34)
- TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population (2014) (34)
- Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. (2014) (34)
- A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1 (2018) (33)
- Genome-Wide Linkage Analysis to Identify Genetic Modifiers of ALK Mutation Penetrance in Familial Neuroblastoma (2011) (33)
- Mutations in topoisomerase IIβ result in a B cell immunodeficiency (2019) (33)
- Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk (2018) (33)
- Genetic Analyses in Asthma (2002) (32)
- Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction (2016) (32)
- Role of Cytokines in Systemic Lupus Erythematosus: Recent Progress from GWAS and Sequencing (2012) (32)
- Genome-wide association studies in type 1 diabetes (2009) (32)
- Extended haplotype association study in Crohn’s disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3 (2013) (32)
- A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways. (2016) (32)
- Association between IL-1beta/TNF-alpha-induced glucocorticoid-sensitive changes in multiple gene expression and altered responsiveness in airway smooth muscle. (2001) (31)
- Autocrine signaling by IL-10 mediates altered responsiveness of atopic sensitized airway smooth muscle. (2001) (31)
- The ubiquitin ligase adaptor Ndfip1 regulates T cell-mediated gastrointestinal inflammation and inflammatory bowel disease susceptibility (2011) (31)
- De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. (2019) (31)
- Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies. (2011) (30)
- Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene (2016) (30)
- The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder (2016) (30)
- Severe Lymphatic Disorder Resolved With MEK Inhibition in a Patient With Noonan Syndrome and SOS1 Mutation (2020) (30)
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. (2020) (30)
- DeepPolyA: A Convolutional Neural Network Approach for Polyadenylation Site Prediction (2018) (30)
- Making work visible for electronic phenotype implementation: Lessons learned from the eMERGE network (2019) (30)
- The missense variation landscape of FTO, MC4R and TMEM18 in obese children of African ancestry (2012) (29)
- Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. (2017) (29)
- Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy (2014) (28)
- Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism (2017) (28)
- Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes (2020) (28)
- Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. (2019) (28)
- Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array (2015) (27)
- A first update on mapping the human genetic architecture of COVID-19 (2022) (27)
- Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus. (2013) (27)
- Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations. (2014) (27)
- The Long Noncoding RNA Landscape in Amygdala Tissues from Schizophrenia Patients (2018) (27)
- Genome-Wide Association Study of Maternal and Inherited Loci for Conotruncal Heart Defects (2014) (27)
- A missense mutation in ANKRD26 segregates with thrombocytopenia. (2013) (27)
- Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism. (2016) (26)
- Association of Type 2 Diabetes Susceptibility Loci With One‐Year Weight Loss in the Look AHEAD Clinical Trial (2012) (26)
- Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome (2015) (26)
- A Genomewide Association Study Identifies Two Sex‐Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites (2017) (26)
- Genetic Variation in Genes Encoding Airway Epithelial Potassium Channels Is Associated with Chronic Rhinosinusitis in a Pediatric Population (2014) (26)
- Genetic variants in major histocompatibility complex-linked genes associate with pediatric liver transplant rejection. (2008) (26)
- An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6 (2009) (26)
- Patient genotypes impact survival after surgery for isolated congenital heart disease. (2014) (26)
- Model-based deep embedding for constrained clustering analysis of single cell RNA-seq data (2021) (26)
- Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (26)
- Type I IFN response associated with mTOR activation in the TAFRO subtype of idiopathic multicentric Castleman disease. (2020) (26)
- Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis (2019) (25)
- Genetic analyses in asthma: current concepts and future directions. (2002) (25)
- Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa (2019) (25)
- Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9 (2018) (25)
- Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder (2015) (25)
- BMD‐Associated Variation at the Osterix Locus Is Correlated With Childhood Obesity in Females (2011) (25)
- Gene Network Analysis in a Pediatric Cohort Identifies Novel Lung Function Genes (2012) (25)
- Frequency of genomic incidental findings among 21,915 eMERGE network participants (2020) (25)
- Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations. (2015) (24)
- Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia (2018) (24)
- Kaposiform lymphangiomatosis effectively treated with MEK inhibition (2020) (24)
- A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling (2017) (24)
- A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls (2013) (24)
- Mechanism of cooperative effects of rhinovirus and atopic sensitization on airway responsiveness. (2001) (23)
- Genome-wide association studies in type 1 diabetes, inflammatory bowel disease and other immune-mediated disorders. (2009) (23)
- Bayesian integration of genetics and epigenetics detects causal regulatory SNPs underlying expression variability (2015) (23)
- Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk (2017) (23)
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (23)
- Copy number variation on chromosome 10q26.3 for obesity identified by a genome-wide study. (2013) (23)
- Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies (2018) (23)
- Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome (2021) (23)
- Epistasis amongst PTPN2 and genes of the vitamin D pathway contributes to risk of juvenile idiopathic arthritis (2015) (23)
- A genome-wide association study of polycystic ovary syndrome identified from electronic health records. (2020) (23)
- A cis-Acting Regulatory Variant in the IL2RA Locus1 (2009) (22)
- Strategies for Genetic Studies of Complex Diseases (2010) (22)
- Impact of exome sequencing in inflammatory bowel disease. (2013) (22)
- Are genetic tests informative in predicting food allergy? (2016) (22)
- Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel Disease (2016) (22)
- Unraveling the complex genetic underpinnings of asthma and allergic disorders (2010) (22)
- Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma. (2019) (22)
- Utility of next‐generation sequencing technologies for the efficient genetic resolution of haematological disorders (2016) (22)
- Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability (2017) (22)
- Common variants at 12q15 and 12q24 are associated with infant head circumference (2013) (22)
- Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches. (2016) (22)
- Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned (2015) (22)
- Participant choices for return of genomic results in the eMERGE Network (2020) (21)
- Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases. (2008) (21)
- Genome-Wide Association Studies of Autism (2014) (21)
- A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay. (2009) (21)
- Two Variants of the C-Reactive Protein Gene Are Associated with Risk of Pre-Eclampsia in an American Indian Population (2013) (21)
- LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data (2018) (21)
- Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene (2017) (21)
- Burden of copy number variation in common variable immunodeficiency (2014) (21)
- Erratum: Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy (Genome Research (2009) 19 (276-283)) (2009) (21)
- Increased expression of peripheral blood leukocyte genes implicate CD14+ tissue macrophages in cellular intestine allograft rejection. (2011) (21)
- Attention-Deficit Hyperactivity Disorder and Pharmacotherapy—Past, Present, and Future (2015) (21)
- A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism. (2016) (21)
- Advances in the development of genetic markers for the diagnosis of disease and drug response (2002) (21)
- Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia (2010) (21)
- Intrinsic ICAM-1/LFA-1 activation mediates altered responsiveness of atopic asthmatic airway smooth muscle. (2000) (20)
- Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. (2019) (20)
- Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2017) (20)
- Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions. (2015) (20)
- The PCDH1 gene and asthma in early childhood (2013) (20)
- Role of FLAP and PDE4D in myocardial infarction and stroke: Target discovery and future treatment options (2006) (20)
- Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy (2015) (20)
- Mosaic trisomy 17: Variable clinical and cytogenetic presentation (2011) (20)
- The role of leptin, melanocortin, and neurotrophin system genes on body weight in anorexia nervosa and bulimia nervosa. (2014) (20)
- Food allergen triggers are increased in children with the TSLP risk allele and eosinophilic esophagitis (2017) (20)
- CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations (2015) (20)
- Mendelian randomization analysis demonstrates that low vitamin D is unlikely causative for pediatric asthma. (2016) (20)
- Genetic Discrimination Between LADA and Childhood-Onset Type 1 Diabetes Within the MHC (2019) (20)
- Altered expression and action of the low-affinity IgE receptor FcepsilonRII (CD23) in asthmatic airway smooth muscle. (1999) (20)
- Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies (2019) (20)
- Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders (2021) (19)
- Rare variants at 16p11.2 are associated with common variable immunodeficiency. (2015) (19)
- Common Variants in HSPB 7 and FRMD 4 B Associated With Advanced Heart Failure (2010) (19)
- Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing (2013) (19)
- Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure (2019) (19)
- In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium. (2010) (19)
- Rare genomic deletions and duplications and their role in neurodevelopmental disorders. (2012) (19)
- Expression Pattern of the SARS-CoV-2 Entry Genes ACE2 and TMPRSS2 in the Respiratory Tract (2020) (19)
- Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity. (2019) (19)
- Etiology of Autism Spectrum Disorder: A Genomics Perspective (2014) (19)
- Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia (2016) (18)
- Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors. (2012) (18)
- Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations (2013) (18)
- Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy (2011) (18)
- Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence (2014) (18)
- Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel (2018) (18)
- SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases (2016) (18)
- Two-Stage Extreme Phenotype Sequencing Design for Discovering and Testing Common and Rare Genetic Variants: Efficiency and Power (2012) (18)
- Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy (2020) (17)
- Genetic variance in Nitric Oxide Synthase and Endothelin Genes among children with and without Endothelial Dysfunction (2013) (17)
- An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder (2016) (17)
- Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes (2013) (17)
- Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism. (2015) (17)
- Learning-dependent chromatin remodeling highlights noncoding regulatory regions linked to autism (2018) (17)
- Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility (2016) (17)
- CLEC16A regulates splenocyte and NK cell function in part through MEK signaling (2018) (16)
- Loss of EGFR-ASAP1 signaling in metastatic and unresectable hepatoblastoma (2016) (16)
- Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR) (2015) (16)
- Machine learning derived risk prediction of anorexia nervosa (2015) (16)
- A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies. (2020) (16)
- Progress in Understanding Type 1 Diabetes Through Its Genetic Overlap with Other Autoimmune Diseases (2015) (16)
- Candidate Loci are Revealed by an Initial Genome-wide Association Study of Juvenile Osteochondritis Dissecans (2017) (16)
- Assessing non-Mendelian Inheritance in Inherited Axonopathies (2020) (16)
- Recent advances in the genetics and genomics of asthma and related traits (2010) (16)
- Gene expression over the course of schizophrenia: from clinical high-risk for psychosis to chronic stages (2019) (16)
- SNP genotyping data high-resolution copy number variation detection in whole-genome PennCNV : An integrated hidden Markov model designed for Material Supplemental (2007) (16)
- A distinct GM-CSF+ T helper cell subset requires T-bet to adopt a TH1 phenotype and promote neuroinflammation (2020) (16)
- De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females (2020) (16)
- Cell-free DNA screening for trisomies 21, 18 and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation. (2022) (16)
- Rhinovirus-mediated changes in airway smooth muscle responsiveness: induced autocrine role of interleukin-1beta. (1999) (16)
- Planning a genome-wide association study: Points to consider (2011) (16)
- Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome. (2022) (16)
- Macrophages in SHH subgroup medulloblastoma display dynamic heterogeneity that varies with treatment modality. (2021) (15)
- Candidate gene analyses for acute pain and morphine analgesia after pediatric day surgery: African American versus European Caucasian ancestry and dose prediction limits (2018) (15)
- Targeted resequencing identifies defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease (2013) (15)
- Enhanced B Cell Alloantigen Presentation and Its Epigenetic Dysregulation in Liver Transplant Rejection (2016) (15)
- The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females (2015) (15)
- TNFAIP8 controls murine intestinal stem cell homeostasis and regeneration by regulating microbiome-induced Akt signaling (2020) (15)
- The Autoimmune Disorder Susceptibility Gene CLEC16A Restrains NK Cell Function in YTS NK Cell Line and Clec16a Knockout Mice (2019) (15)
- Copy Number Variations in Alternative Splicing Gene Networks Impact Lifespan (2013) (15)
- Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network (2019) (15)
- Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci (2018) (15)
- T lymphocyte-mediated changes in airway smooth muscle responsiveness are attributed to induced autocrine release and actions of IL-5 and IL-1beta. (2002) (15)
- Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity (2020) (14)
- Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene. (2019) (14)
- Target Genes of Autism Risk Loci in Brain Frontal Cortex (2019) (14)
- Rare copy number variants in patients with congenital conotruncal heart defects. (2017) (14)
- Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia (2014) (14)
- GATA factors promote ER integrity and β-cell survival and contribute to type 1 diabetes risk. (2014) (14)
- Author Correction: 137 ancient human genomes from across the Eurasian steppes (2018) (14)
- De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females (2020) (14)
- Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs (2018) (14)
- Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study. (2017) (14)
- Pathway-Based Genome-Wide Association Studies for Plasma Triglycerides in Obese Females and Normal-Weight Controls (2015) (14)
- Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions. (2014) (14)
- Results of Genome-Wide Analyses on Neurodevelopmental Phenotypes at Four-Year Follow-Up following Cardiac Surgery in Infancy (2012) (14)
- The genetic basis of eosinophilic esophagitis. (2015) (13)
- The Multi-Omics Architecture of Juvenile Idiopathic Arthritis (2020) (13)
- ANKRD11 variants: KBG syndrome and beyond (2021) (13)
- Lack of relationship between mitochondrial heteroplasmy or variation and childhood obesity (2012) (13)
- Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments (2015) (13)
- Erratum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 (Nature Genetics (2011) 43 (246-252)) (2011) (13)
- A Mendelian Randomization Approach Using 3-HMG-Coenzyme-A Reductase Gene Variation to Evaluate the Association of Statin-Induced Low-Density Lipoprotein Cholesterol Lowering With Noncardiovascular Disease Phenotypes (2021) (13)
- Common variants at 5q33.1 predispose to migraine in African-American children (2018) (13)
- Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. (2020) (13)
- Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation (2011) (13)
- ADHD & Pharmacotherapy: Past, Present and Future: A Review of the Changing Landscape of Drug Therapy for Attention Deficit Hyperactivity Disorder. (2015) (13)
- Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk (2020) (13)
- Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia (2010) (13)
- Prospective study of insulin-like growth factor-I, insulin-like growth factor-binding protein 3, genetic variants in the IGF1 and IGFBP3 genes and risk of coronary artery disease. (2011) (13)
- Pathway-Based Genome-wide Association Studies Reveal That the Rac1 Pathway Is Associated with Plasma Adiponectin Levels (2015) (12)
- Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features (2020) (12)
- Damaging Variants in Proangiogenic Genes Impair Growth in Fetuses with Cardiac Defects. (2019) (12)
- Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism (2018) (12)
- Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect (2015) (12)
- Heparin-binding protein levels correlate with aggravation and multiorgan damage in severe COVID-19 (2020) (12)
- Genetic predisposition to longer telomere length and risk of childhood, adolescent and adult-onset ependymoma (2020) (12)
- Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis (2015) (12)
- Genome-wide association study identifies novel type II diabetes risk loci in Jordan subpopulations (2017) (12)
- Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network (2018) (12)
- The Impact of Genomics on Pediatric Research and Medicine (2012) (12)
- Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients (2021) (12)
- Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry (2008) (12)
- Copy number variation analysis reveals additional variants contributing to endometriosis development (2016) (12)
- Application of ACMG criteria to classify variants in the human gene mutation database (2019) (11)
- Serum levels of the IgA isotype switch factor TGF‐β1 are elevated in patients with COVID‐19 (2021) (11)
- Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts (2014) (11)
- Classification of genetic profiles of Crohn’s disease: a focus on the ATG16L1 gene (2008) (11)
- Effects of the brain-derived neurotropic factor variant Val66Met on cortical structure in late childhood and early adolescence. (2018) (11)
- Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. (2016) (11)
- European genetic ancestry associated with risk of childhood ependymoma. (2019) (11)
- Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. (2022) (11)
- Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios (2019) (11)
- Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child. (2019) (11)
- A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures (2017) (11)
- Genetic risk for Alzheimer's disease and functional brain connectivity in children and adolescents (2019) (11)
- Neuroinflammation and EIF2 Signaling Persist despite Antiretroviral Treatment in an hiPSC Tri-culture Model of HIV Infection (2020) (10)
- Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes (2014) (10)
- Regulation of TH 1-and TH 2-type cytokine expression and action in atopic asthmatic sensitized airway smooth muscle (1999) (10)
- Convergent mechanisms of somatic mutations in polycythemia vera. (2010) (10)
- Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants (2020) (10)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (10)
- Genome-wide association studies of low back pain and lumbar spinal disorders using electronic health record data identify a locus associated with lumbar spinal stenosis. (2021) (10)
- Risk of pre‐eclampsia in patients with a maternal genetic predisposition to common medical conditions: a case–control study (2020) (10)
- Genome-wide investigation of schizophrenia associated plasma Ndel1 enzyme activity (2016) (10)
- Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. (2021) (10)
- A genome-wide association meta-analysis identifies new Eosinophilic esophagitis loci. (2021) (10)
- An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 (2015) (10)
- A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies (2019) (10)
- Genetic approaches to assessing evidence for a T helper type 1 cytokine defect in adult asthma. (2004) (10)
- TSLP-elicited basophil responses mediate the pathogenesis of eosinophilic esophagitis (2013) (10)
- Autosomal dominant mannose‐binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants (2017) (10)
- Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects (2020) (9)
- Transcriptome Profiling of Human Ulcerative Colitis Mucosa Reveals Altered Expression of Pathways Enriched in Genetic Susceptibility Loci (2014) (9)
- A unified framework identifies novel links between plasma lipids and diseases from electronic medical records across large-scale cohorts (2021) (9)
- Genetic underpinnings of obstructive sleep apnea: are we making progress? (2011) (9)
- RUNX1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cells. (2021) (9)
- Genome-Wide Association Study of Serum Minerals Levels in Children of Different Ethnic Background (2015) (9)
- Autophagy mitigates ethanol-induced mitochondrial dysfunction and oxidative stress in esophageal keratinocytes (2020) (9)
- Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients. (2021) (9)
- DENND1B gene variants associate with elevated exhaled nitric oxide in healthy high‐risk neonates (2015) (9)
- Perindopril treatment promote left ventricle remodeling in patients with heart failure screened positive for autoantibodies against angiotensin II type 1 receptor (2013) (9)
- Breaking new ground in inflammatory bowel disease genetics: genome-wide association studies and beyond. (2010) (9)
- Detecting multiple differentially methylated CpG sites and regions related to dimensional psychopathology in youths (2019) (9)
- Mapping the 17q12-21.1 Locus for Variants Associated with Early-onset Asthma in African Americans. (2020) (9)
- Reply to Joel and Tarrasch: On misreading and shooting the messenger (2014) (9)
- Phenome-wide association studies (PheWAS) across large “real-world data” population cohorts support drug target validation (2017) (9)
- Genomic risk scores for juvenile idiopathic arthritis and its subtypes (2020) (9)
- The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis. (2015) (9)
- Mitochondrial DNA haplogroups and susceptibility to neuroblastoma. (2020) (8)
- Detection of maternal X chromosome abnormalities using single nucleotide polymorphism-based noninvasive prenatal testing. (2020) (8)
- Genome‐wide association analysis of psoriasis patients treated with anti‐TNF drugs (2020) (8)
- Deep learning prediction of attention-deficit hyperactivity disorder in African Americans by copy number variation (2021) (8)
- Unsupervised Modeling and Genome-Wide Association Identify Novel Features of Allergic March Trajectories. (2020) (8)
- Research with Arctic peoples: Unique research opportunities in heart, lung, blood and sleep disorders (2006) (8)
- Crohn ’ s Disease and Genetic Hitchhiking at IBD 5 (2011) (8)
- A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD (2017) (8)
- Pathway-based Genome-wide Association Studies Reveal the Association Between Growth Factor Activity and Inflammatory Bowel Disease (2016) (8)
- Structural variations in attention-deficit hyperactivity disorder (2011) (8)
- Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality (2020) (8)
- Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence (2019) (8)
- Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency (2011) (8)
- Population Genomics of Drug Response (2004) (8)
- Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher predisposition to lymph node metastasis. (2014) (8)
- Genetic Reduction in Left Ventricular Protein Kinase C-&agr; and Adverse Ventricular Remodeling in Human Subjects (2018) (8)
- Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. (2021) (8)
- Genomic Considerations for FHIR; eMERGE Implementation Lessons (2021) (8)
- Expanding the Genetic Landscape of Usher-Like Phenotypes. (2019) (8)
- COVID-19: Look to the Future, Learn from the Past (2020) (8)
- Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4 (2021) (7)
- PECONPI: A novel software for uncovering pathogenic copy number variations in non‐syndromic sensorineural hearing loss and other genetically heterogeneous disorders (2013) (7)
- Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder (2012) (7)
- The polygenic architecture of left ventricular mass mirrors the clinical epidemiology (2020) (7)
- Midazolam Dose Optimization in Critically Ill Pediatric Patients With Acute Respiratory Failure: A Population Pharmacokinetic-Pharmacogenomic Study (2019) (7)
- Novel locus for atopic dermatitis in African Americans and replication in European Americans. (2019) (7)
- Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects (2019) (7)
- Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study (2021) (7)
- Loss‐of‐Function Mutations in KIF15 Underlying a Braddock–Carey Genocopy (2017) (7)
- Fraction of exhaled nitric oxide values in childhood are associated with 17 q 11 . 2q 12 and 17 q 12-q 21 variants (7)
- Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene (Brain Pathol (2008) 19 (449-458)) (2009) (7)
- Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study (2016) (7)
- P Lack of Association Between the Trp 719 Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies (2010) (7)
- Application of deep learning algorithm on whole genome sequencing data uncovers structural variants associated with multiple mental disorders in African American patients (2022) (7)
- Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant (2016) (7)
- Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients (2015) (7)
- Mendelian randomization study of obesity and type 2 diabetes in hospitalized COVID-19 patients (2022) (7)
- Genome-wide Association: From Confounded to Confident (2011) (6)
- Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (2021) (6)
- Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. (2014) (6)
- DeepCNV: a deep learning approach for authenticating copy number variations (2021) (6)
- Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa. (2019) (6)
- Expanding the phenotypic spectrum of TP63‐related disorders including the first set of monozygotic twins (2018) (6)
- Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing (2016) (6)
- Rare Recurrent Variants in Noncoding Regions Impact Attention-Deficit Hyperactivity Disorder (ADHD) Gene Networks in Children of both African American and European American Ancestry (2021) (6)
- Asthma and its relationship to mitochondrial copy number: Results from the Asthma Translational Genomics Collaborative (ATGC) of the Trans-Omics for Precision Medicine (TOPMed) program (2020) (6)
- A current snapshot of common genomic variants contribution in psychiatric disorders (2016) (6)
- A genome-wide association study of polycystic ovary syndrome identified from electronic health records (2019) (6)
- Genetic effects on the timing of parturition and links to fetal birth weight (2022) (6)
- Inducible knockout of Clec16a in mice results in sensory neurodegeneration (2021) (6)
- Lung Function in African American Children with Asthma Is Associated with Novel Regulatory Variants of the KIT Ligand KITLG/SCF and Gene-By-Air-Pollution Interaction (2020) (6)
- Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum (2019) (6)
- Erratum: Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci (American Journal of Human Genetics (2012) 90 (410-425)) (2012) (6)
- Proteomics screen to reveal molecular changes mediated by C722G missense mutation in CHRM2 gene. (2013) (6)
- Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function (2016) (6)
- Atypical teratoid/rhabdoid tumor in a patient with Beckwith–Wiedemann syndrome (2007) (6)
- Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants. (2018) (6)
- Application of computational methods in genetic study of inflammatory bowel disease. (2016) (6)
- A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids (2021) (6)
- Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci (2021) (6)
- Genetic correlations among neuro-behavioral and immune-related phenotypes based on genome-wide association data (2016) (6)
- Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. (2019) (6)
- Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils (2019) (5)
- NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases (2021) (5)
- Non-coding structural variation differentially impacts attention-deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children (2020) (5)
- A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213 (2021) (5)
- 76 Genome Wide Association (GWA) Predictors of Anti-TNFα Therapeutic Responsiveness in Pediatric Inflammatory Bowel Disease (IBD) (2009) (5)
- CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease. (2019) (5)
- Implications of an admixed Brazilian population in schizophrenia polygenic risk score (2019) (5)
- Ciliopathies: Coloring outside of the lines (2020) (5)
- Correction: A Genome-Wide Association Study on Obesity and Obesity-Related Traits (2012) (5)
- Corrigendum: An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder (2016) (5)
- Intragenic deletions of GNAS in pseudohypoparathyroidism type 1A identify a new region affecting methylation of exon A/B. (2020) (5)
- Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans (2020) (5)
- Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. (2021) (5)
- Regulation of Janus Kinase 2 by an Inflammatory Bowel Disease Causal Non-coding Single Nucleotide Polymorphism. (2020) (5)
- Clustering of single-cell multi-omics data with a multimodal deep learning method (2022) (5)
- Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual through variant-to-gene mapping (2020) (5)
- Genetic correlations between COVID-19 and a variety of traits and diseases (2020) (5)
- Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23 (2020) (5)
- Loci identified by a genome‐wide association study of carotid artery stenosis in the eMERGE network (2020) (5)
- Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation (2013) (5)
- Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964) (2017) (5)
- tRNA-DL: A Deep Learning Approach to Improve tRNAscan-SE Prediction Results (2019) (5)
- Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency (2019) (5)
- Erratum: Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency (American Journal of Human Genetics (2011) 89 (28-43)) (2011) (5)
- Epistasis Detection in Genome-Wide Screening for Complex Human Diseases in Structured Populations (2019) (5)
- IL1RN Polymorphism Is Associated With Lower Risk Of Acute Lung Injury In Two Separate At-Risk Populations (2010) (5)
- B-37The Relationship between Body Mass Index and Executive Function from Late Childhood through Adolescence (2014) (5)
- Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments (2015) (5)
- Manifestations of Alzheimer’s disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90 (2022) (4)
- Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism (2016) (4)
- Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes (2021) (4)
- Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity (2017) (4)
- Association of DLL1 with type 1 diabetes in patients characterized by low polygenic risk score. (2020) (4)
- Association of novel rare coding variants with juvenile idiopathic arthritis (2021) (4)
- Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries (2022) (4)
- Expanded phenotypic spectrum of JAG1‐associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1 (2020) (4)
- Multiple Epistasis Interactions Within MHC Are Associated With Ulcerative Colitis (2019) (4)
- Improved genetic risk scoring algorithm for type 1 diabetes prediction (2022) (4)
- Leveraging electronic health records to assess the role of ADRB2 single nucleotide polymorphisms in predicting exacerbation frequency in asthma patients (2018) (4)
- Multiancestral polygenic risk score for pediatric asthma. (2022) (4)
- Mucosal Plasma Cell Barrier Disruption During Intestine Transplant Rejection (2012) (4)
- 4th Pediatric Allergy and Asthma Meeting (PAAM) (2016) (4)
- Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients (2021) (4)
- Examination of genetic variants influencing lipid traits in pediatric populations (2012) (4)
- Genome-wide association studies in asthma: progress and pitfalls (2015) (4)
- CSF-1 maintains pathogenic but not homeostatic myeloid cells in the central nervous system during autoimmune neuroinflammation (2022) (4)
- The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. (2022) (4)
- Expansion of Schizophrenia Gene Network Knowledge Using Machine Learning Selected Signals From Dorsolateral Prefrontal Cortex and Amygdala RNA-seq Data (2022) (4)
- Drug‐resistant epilepsy classified by a phenotyping algorithm associates with NTRK2 (2019) (4)
- A novel heterotaxy gene: Expansion of the phenotype of TTC21B‐spectrum disease (2021) (4)
- Copy Number Variant Risk Scores Associated With Cognition, Psychopathology, and Brain Structure in Youths in the Philadelphia Neurodevelopmental Cohort (2022) (4)
- Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts (2014) (4)
- Genetic architecture study of rheumatoid arthritis and juvenile idiopathic arthritis (2020) (4)
- JAK/STAT inhibitor therapy partially rescues the lipodystrophic autoimmune phenotype in Clec16a KO mice (2021) (4)
- Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p (2022) (4)
- Elucidation of DNA methylation on N6-adenine with deep learning (2020) (4)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (4)
- Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract (2019) (4)
- Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition (2022) (4)
- Metabolomic profiling of anaerobic and aerobic energy metabolic pathways in chronic obstructive pulmonary disease (2021) (4)
- 137 ancient human genomes from across the Eurasian steppes (2018) (4)
- Biofilter as a Functional Annotation Pipeline for Common and Rare Copy Number Burden (2016) (3)
- Morphine Dose Optimization in Critically Ill Pediatric Patients With Acute Respiratory Failure: A Population Pharmacokinetic-Pharmacogenomic Study (2019) (3)
- The Added Value of Family Material in the Discovery of Multiple Sclerosis Genes (2016) (3)
- Effect of micro-osteoperforations on the gene expression profile of the periodontal ligament of orthodontically moved human teeth (2021) (3)
- Using common genetic variants to find drugs for common epilepsies (2021) (3)
- Variants in the Kisspeptin-GnRH Pathway Modulate the Hormonal Profile and Reproductive Outcomes. (2020) (3)
- CYP2B6*6 or Not CYP2B6*6-That Remains a Question for Precision Medicine and Ketamine! (2016) (3)
- Implementing Pharmacogenetic Testing in Gastrointestinal Cancers (IMPACT-GI): Study Protocol for a Pragmatic Implementation Trial for Establishing DPYD and UGT1A1 Screening to Guide Chemotherapy Dosing (2022) (3)
- Whole genome sequencing of pharmacogenetic drug response in racially and ethnically diverse children with asthma (2017) (3)
- From schizophrenia risk locus to schizophrenia genes (2016) (3)
- Maternal genome-wide association study identifies a fasting glucose variant associated with offspring birth weight (2015) (3)
- Genome-Wide Association Study Of Acute Lung Injury Risk Loci In The Ispaar Consortium (2011) (3)
- Pain versus analgesia: TAOK3 as a pharmacogene. (2017) (3)
- NAC blocks Cystatin C amyloid complex aggregation in a cell system and in skin of HCCAA patients (2021) (3)
- ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies (2022) (3)
- Common Genetic Variation and Age of Onset of Anorexia Nervosa (2021) (3)
- SNP array mapping of 20p deletions: Genotypes, Phenotypes and Copy Number Variation (2011) (3)
- Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment (2020) (3)
- DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis (2019) (3)
- A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening. (2021) (3)
- Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation (2018) (3)
- HIF-1α Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions (2021) (3)
- Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. (2021) (3)
- Genetic Variation in PADI6-PADI4 on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy (2021) (3)
- Machine Learning Reduced Gene/Non-Coding RNA Features That Classify Schizophrenia Patients Accurately and Highlight Insightful Gene Clusters (2020) (3)
- An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities (2022) (3)
- Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling (2018) (3)
- Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology (2022) (3)
- FLNC and MYLK2 gene mutations in a Chinese family with different phenotypes of cardiomyopathy (2020) (2)
- TELOMERE LENGTH AND CARDIOVASCULAR OUTCOMES (2012) (2)
- Single-Cell RNA-Sequencing of Peripheral Blood Mononuclear Cells Reveals Changes in Immune Cell Composition and Distinct Inflammatory Gene Expression Profiles during Idiopathic Multicentric Castleman Disease Flare (2018) (2)
- Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children (2015) (2)
- COVID-19 in pediatrics: Genetic susceptibility (2022) (2)
- Ask the experts: pharmacogenomics and genome-wide association studies. (2013) (2)
- Whole Genome Sequencing of Four CD34+-Derived iPSC Polycythemia Vera Clones From a Single Female (2012) (2)
- Expression Pattern of the SARS-CoV-2 Receptor ACE2 and TMPRSS2 in the Respiratory Tract (2020) (2)
- Genetics of Inflammatory Bowel Diseases (2013) (2)
- Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure (2022) (2)
- Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses (2019) (2)
- Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis (2022) (2)
- Mitochondrial heteroplasmy and the influence of aging (2011) (2)
- Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort (2021) (2)
- Systemic juvenile idiopathic arthritis is associated with HLA-DRB1 in Europeans and Americans of European descent (2012) (2)
- 847v 18 New Crohn's Disease Susceptibility Genes and Loci Identified by the International IBD Genetics Consortium (2010) (2)
- Pathologic gene network rewiring implicates PPP1R3A as a central cardioprotective factor in pressure overload heart failure (2016) (2)
- Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel (2020) (2)
- Response to Li and Hopper. (2021) (2)
- Relationship Between Mitochondrial Copy Number and Asthma Status (2019) (2)
- Use of a genome-wide linkage screen to identify a hereditary neuroblastoma predisposition locus at chromosome 2p24–23 (2008) (2)
- Large trans-ethnic meta-analysis identifies AKR1C4 as a novel gene associated with age at menarche. (2021) (2)
- Pharmacological treatment and prognosis of ADHD (2013) (2)
- Dynamic Bayesian Testing of Sets of Variants in Complex Diseases (2014) (2)
- Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium (2021) (2)
- A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response (2021) (2)
- Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics (2021) (2)
- Are serum brain-derived neurotrophic factor concentrations related to brain structure and psychopathology in late childhood and early adolescence? (2019) (2)
- Characterizing variability of electronic health record-driven phenotype definitions (2022) (2)
- Novel EDGE encoding method enhances ability to identify genetic interactions (2021) (2)
- Erratum: Author Correction: 137 ancient human genomes from across the Eurasian steppes (Nature (2018) 557 7705 (369-374)) (2018) (2)
- Maternal effect genes as risk factors for congenital heart defects (2022) (2)
- Linkage to apnea-hypopnea index across the life-span: is this a viable strategy? (2004) (2)
- Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling (2017) (2)
- Epistasis Detection using Model Based Multifactor Dimensionality Reduction in Structured Populations (2019) (2)
- Incidental Findings in Youths Volunteering for Brain (2013) (2)
- Correction: Two Variants of the C-Reactive Protein Gene Are Associated with Risk of Pre-Eclampsia in an American Indian Population (2013) (2)
- Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome (2019) (2)
- A homozygous truncating NALCN variant in two Afro‐Caribbean siblings with hypotonia and dolichocephaly (2020) (2)
- Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status (2019) (2)
- Year : 2011 A cooperative interaction between LPHN 3 and 11 q doubles the risk for ADHD (2011) (2)
- Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly (2022) (2)
- Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes (2014) (2)
- Erratum: Common variants at 6q22 and 17q21 are associated with intracranial volume (2013) (2)
- Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects (2021) (2)
- MONTAGE: a new tool for high-throughput detection of mosaic copy number variation (2021) (2)
- A Large-Scale Genetic Association Study Identifies Different Susceptibility Loci Of Sepsis-Related And Non-Sepsis-Related ARDS (2010) (1)
- New insights into hallux valgus by whole exome sequencing study (2021) (1)
- Identification of Novel, Replicable Genetic Risk Loci for Suicidal Thoughts and Behaviors Among US Military Veterans. (2022) (1)
- Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions (2021) (1)
- Association of HMGA2 Gene Variation with Height in Specific Pediatric Age Categories (2008) (1)
- Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement (2013) (1)
- Large Scale Genotyping In A Trauma Cohort Identifies Pathways Associated With Acute Kidney Injury Following Trauma (2010) (1)
- Autism Spectrum Disorders: Insights from Genomics (2013) (1)
- The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions. (2014) (1)
- Genomic Disorders in CKD across the Lifespan (2022) (1)
- Correction: Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy (2020) (1)
- Risk of preeclampsia in patients with genetic predisposition to common medical conditions: a case-control study (2020) (1)
- Performance of model-based multifactor dimensionality reduction methods for epistasis detection by controlling population structure (2020) (1)
- A Large-scale Genotyping Study Identifies Five Genes Associated With ARDS Development (2010) (1)
- A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder (2022) (1)
- Genetic discrimination between LADA and type 1 diabetes within the MHC (2018) (1)
- Genetic Risk Variants for Celiac Disease in the IL2/IL21 Locus are Associated with Eosinophilic Esophagitis (2010) (1)
- The role of gene–ambient air pollution interactions in paediatric asthma (2022) (1)
- Returning integrated genomic risk and clinical recommendations: the eMERGE study. (2023) (1)
- Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization (2019) (1)
- Aortic coarctation and carotid artery aneurysm in a patient with hardikar syndrome: Cardiovascular implications for affected individuals (2016) (1)
- De Novo Heterozygous Mutations in SMC 3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes Marı́a (2015) (1)
- Further supporting SMARCC2‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients (2021) (1)
- Genetic association of primary nonresponse to anti-TNFα therapy in patients with inflammatory bowel disease (2020) (1)
- X‐chromosome association studies of congenital heart defects (2019) (1)
- Integrative Genetics Analysis of Juvenile Idiopathic Arthritis Identifies Novel Loci (2020) (1)
- Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics (2017) (1)
- Genome Wide Association (GWA) Identifies Functional Susceptibility Loci For Trauma-Associated Acute Lung Injury (2010) (1)
- Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family (2020) (1)
- Elevation of Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries (2021) (1)
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (1)
- Genetics of Low Polygenic Risk Score Type 1 Diabetes Patients: rare variants in 22 novel loci (2020) (1)
- Pharmacogenomic Applications in Children (2008) (1)
- Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies (2022) (1)
- Interpretation of Maturity-Onset Diabetes of the Young Genetic Variants Based on American College of Medical Genetics and Genomics Criteria: Machine-Learning Model Development (2020) (1)
- Multi-ancestry Genome-wide Association Study of Varicose Veins Reveals Polygenic Architecture, Genetic Overlap with Arterial and Venous Disease, and Novel Therapeutic Opportunities (2022) (1)
- Genetic architecture of asthma in African American Patients. (2022) (1)
- Genetics of BAG3: A Paradigm for Developing Precision Therapies for Dilated Cardiomyopathies (2022) (1)
- The Infection Rate of the Coronavirus Disease 2019 (COVID-19) in Wuhan, China (2020) (1)
- Genes Involved in Type 1 Diabetes (2013) (1)
- The Infection Rate of COVID-19 in Wuhan, China: Combined Analysis of Population Samples (2020) (1)
- Single-cell transcriptomic profile reveals macrophage heterogeneity in medulloblastoma and their treatment-dependent recruitment (2020) (1)
- Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes (2022) (1)
- Metabolomic profiling for dyslipidemia in pediatric patients with sickle cell disease, on behalf of the IHCC consortium (2022) (1)
- Whole Exome Sequencing Identifies EPHB4 and PIk3R6 as Causes of Generalized Lymphatic Anomaly (2016) (1)
- Falk Symposium Series (2009) (1)
- Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Freshly Isolated versus Stored Blood Samples (2023) (1)
- Genome-wide association study of acne inversa in a multi-ethnic cohort (2019) (1)
- Type I Interferon Response Identified through Phenotypic and Transcriptional Profiling of Circulating Immune Cells during Idiopathic Multicentric Castleman Disease Flare (2019) (1)
- Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome (2021) (1)
- Genetics of varicose veins reveals polygenic architecture and genetic overlap with arterial and venous disease (2023) (1)
- GWAS-implicated in type 1 and type 2 diabetes loci: insight into their relative roles in the pathogenesis of Latent Autoimmune Diabetes in Adults (LADA) (2015) (1)
- Neuroinflammation and EIF2 signaling persist in an HiPSC tri-culture model of HIV infection despite antiretroviral treatment (2019) (1)
- Mo1213 TSLP Risk Alleles are Increased in Pediatric Patients With Eosinophilic Esophagitis and atopy (2016) (1)
- Discovery of Novel Host Molecular Factors Underlying HBV/HCV Infection (2021) (1)
- Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study (2022) (1)
- P-217 YI SLC11A1 Polymorphism Increases the Risk of Early Surgery in Pediatric Patients With Inflammatory Bowel Disease (2013) (1)
- Abstract 5353: High-throughput automation of the 10x Genomics® Chromium™ workflow for linked-read whole exome sequencing and a targeted lynch syndrome panel (2017) (1)
- Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (2021) (1)
- Human T follicular helper clones seed the germinal center-resident regulatory pool (2022) (1)
- A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual (2022) (1)
- Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome (2021) (1)
- Role of bone-associated loci identified in GWAS meta-analyses in the context of longitudinal pediatric BMD in European Americans (2013) (1)
- Whole exome sequencing reveals the genetic basis of a case of idiopathic hemolytic anemia and suggests candidate rare variants for ADHD in a Utah pedigree (2012) (1)
- Mutation Burden Analysis of Six Common Mental Disorders in African Americans by Whole Genome Sequencing. (2022) (1)
- Erratum: Meta-analysis of dense genecentric association studies reveals common and uncommon variants associated with height ((The American Journal of Human Genetics (2010) 88 (6-18)) (2012) (1)
- High prevalence of elevated serum liver enzymes in Chinese children suggests metabolic syndrome as a common risk factor (2020) (1)
- 6.61 PREDICTIVE VALUE OF GLUTAMATERGIC NETWORK GENE MUTATION TESTING FOR ATTENTION-DEFICIT/HYPERACTIVITY DISORDER IN CHILDREN AND ADOLESCENTS IN AN OUTPATIENT PSYCHIATRY SETTING (2016) (1)
- Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population (2022) (1)
- Loci influencing blood pressure identified using a cardiovascular gene-centric array (Correction to Ganesh et al. 22 (8): 1663) (2013) (1)
- Metabolomic profiling of samples from pediatric patients with asthma unveils deficient nutrients in African Americans (2022) (1)
- Modulatory effects of TAOK3 variants on morphine requirement in acute postoperative pain: An early genome wide association study contribution to the field of pediatric pain (2014) (1)
- Clinical Decision Support with a Comprehensive in-EHR Patient Tracking System Improves Genetic Testing Follow Up (2023) (0)
- Therapeutics , Targets , and Chemical Biology Common Variation at BARD 1 Results in the Expression of an Oncogenic Isoform That In fl uences Neuroblastoma Susceptibility and Oncogenicity (2012) (0)
- Complex hierarchical structures in single-cell genomics data unveiled by deep hyperbolic manifold learning. (2023) (0)
- What have genome-wide association studies contributed to the understanding of the pathogenesis and future management of Type 1 diabetes? (2012) (0)
- A genome-wide association study of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) (2010) (0)
- Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes (2022) (0)
- Genetics of obstructive airways disease: Cystic fibrosis, α-1 antitrypsin deficiency, and Hermansky-Pudlak syndrome (2002) (0)
- Abstract 3866: Identification ofNME7as a predisposition locus and candidate oncogene in neuroblastoma (2010) (0)
- ReplicationofNeuroblastomaSNPAssociationattheBARD1 Locus in African-Americans (2012) (0)
- 6.12 Disruptions in Glutamatergic Network and Neuronal Connectivity Genes in Children and Adolescents With Attention-Deficit/Hyperactivity Disorder (ADHD): Possible Association With Emotional Dysregulation (2017) (0)
- GENOMIC RISK SCORES FOR PREDICTING JUVENILE IDIOPATHIC ARTHRITIS (2020) (0)
- Locus IL 2 RA-Acting Regulatory Variant in the cis A (2009) (0)
- Saudi Arabian CML patient with a novel four‐way translocation at t(9;22;5;2)(q34;q11.2;p13;q44) (2022) (0)
- Expanding the phenotypic spectrum of ARCN1-related syndrome. (2022) (0)
- Sequencing Approaches to Map Genes Linked to Schizophrenia (2016) (0)
- 62 Multicenter prospective study of SNP-based cfDNA screening for aneuploidy with genetic confirmation in 18,496 pregnancies (2021) (0)
- Abstract 13230: Convergence of CXCL12 and PHACTR1: Novel Genome Wide Signals for Myocardial Infarction Regulate Plasma CXCL12 Levels (2010) (0)
- PROTEOMICS SCREEN TO REVEAL MOLECULAR CHANGES MEDIATED BY C722G MISSENSE MUTATION IN CHRM2 GENE (2013) (0)
- Mechanisms by which Obesity Dysregulates Immunometabolic State in Asthma (2020) (0)
- The Infection Rate of COVID-19 in Wuhan, China: Combined Analysis of Population Samples (Preprint) (2020) (0)
- Abstract 4743: Genome-wide gene-centric discovery of disease variants in neuroblastoma (2010) (0)
- Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel (2019) (0)
- Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence (2021) (0)
- IFR2BP2 Mutations Identified As a Novel Genetic Cause of Familial Common Variable Immunodeficiency Identified Via Support Vector Algorithm and Whole Exome Sequencing (2013) (0)
- Facilitating Case-Crossover Studies Using Environmental Protection Agency Data (2022) (0)
- Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research (2022) (0)
- DENND1B gene variants are associated with elevated exhaled nitric oxide in healthy neonates (2011) (0)
- Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders (2022) (0)
- Appendix Reference List (2015) (0)
- Whole-Genome Sequencing Based Meta-Analysis of Asthma Exacerbations from the Asthma Translational Genomic Collaborative (ATGC) of the Trans-Omics for Precision Medicine (TOPMed) Program (0)
- Machine Learning for Interpretation of DNA Variants of Maturity-Onset Diabetes of the Young Genes Based on ACMG Criteria (2020) (0)
- Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology (2022) (0)
- Polygenic risk for schizophrenia is associated with social cognition across development (2015) (0)
- Performance of prenatal cfDNA screening for sex chromosomes (2023) (0)
- Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency (2021) (0)
- Functional characterization of DcR3 in EBV transformed cell lines from IBD patients of different allelic background and role in disease pathogenesis (2019) (0)
- A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature (2023) (0)
- Erratum: Causal effects of body mass index on cardiometabolic traits and events: A mendelian randomization analysis (American Journal of Human Genetics (2014) 94 (198-208)) (2014) (0)
- Author response for "ANKRD11 variants: KBG syndrome and beyond" (2021) (0)
- F136TOBACCO AND ALCOHOL CONSUMPTION IS ASSOCIATED WITH DNA METHYLATION CHANGES IN CHILDREN AND ADOLESCENTS AT HIGH RISK OF PSYCHIATRIC DISORDERS (2019) (0)
- 105 Susceptibility locus for obstructive sleep apnea on Chr 20 – Preliminary results from an ongoing linkage study in Iceland (2006) (0)
- Abstract 3811: Rare variants at 16p11.2 and withinTP53influence neuroblastoma susceptibility. (2013) (0)
- Gene Network Analysis Identifies Novel Lung Function Genes (2011) (0)
- M45 NEURODEVELOPMENTAL COPY NUMBER VARIANTS AND CLINICAL RISK: A PEDIATRIC RECORD POPULATION STUDY (2019) (0)
- Candidate gene analyses for acute pain and morphine analgesia after pediatric day surgery: African American versus European Caucasian ancestry and dose prediction limits (2019) (0)
- Genetic analysis in African American children supports ancestry specific neuroblastoma susceptibility. (2022) (0)
- Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort (2021) (0)
- GW24-e0404 Proteomics screen to reveal molecular changes mediated by C722G missense mutation in CHRM2 gene (2013) (0)
- Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics (2021) (0)
- HUMAN GENOME EPIDEMIOLOGY (HuGE) REVIEW Systematic Review and Meta-Analysis of the Association between b 2 -Adrenoceptor Polymorphisms and Asthma: A HuGE Review (2005) (0)
- Clinical and Functional Characterization of Melanocortin 4 Receptor genetic variants in African American and/or Hispanic children with severe early onset obesity (2018) (0)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (0)
- TNFAIP8 is a central regulator of intestinal homeostasis and regeneration (2020) (0)
- Running Head: Genetic Correlations: Brain & Immune Phenotypes-1 1 Title: Genetic correlations among neuro-behavioral and immune-related phenotypes based on genome- (2017) (0)
- RNA Sequencing in Hypoxia-Adapted T98G Glioblastoma Cells Provides Supportive Evidence for IRE1 as a Potential Therapeutic Target (2023) (0)
- Erratum to: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence (2016) (0)
- Genetic studies of birth weight give biological insights into links with adult disease (2016) (0)
- A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder (2011) (0)
- Abstract 5253: Rare copy number variations (CNVs) influence neuroblastoma susceptibility (2010) (0)
- Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly (2022) (0)
- Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors (2019) (0)
- [Did ketogenic diet in past centuries protect against the consequence of the cystatin L68Q mutation in carriers of HCCAA?] (2022) (0)
- Abstract 4871: New neuroblastoma susceptibility loci at 6q21 withinHACE1andLIN28B (2012) (0)
- Development and validation of targeted treatments for the rare tumor syndrome infantile myofibromatosis. (2020) (0)
- Identification of Treatment Response Genes (2006) (0)
- Population-Based Genetic Screening (2013) (0)
- Using VAAST and massively parallel sequencing to characterize a novel disorder caused by protein N-terminal acetyltransferase deficiency (2012) (0)
- High-order Interactions Among Genetic Variants In Angiogenesis And Inflammatory Pathway Genes In Modulating ARDS Risk In Patients With Sepsis (2010) (0)
- GENETIC SHARING OF COPY NUMBER VARIATIONS ACROSS PSYCHIATRIC DISEASES (2019) (0)
- Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel (2020) (0)
- Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network (2019) (0)
- 001 Genome-wide association study of acne inversa in a multi-ethnic cohort The impact of Fc-binding proteins on IgG targeting BP180 Skin Cells Progressively Subvert The Activation Of Pathogenic Type-2 Immunity Upon Epicutaneous Allergen Immunotherapy Adaptive Immunity and Autoimmunity (2019) (0)
- MHC haplotype sequencing: an integrated approach to common disease (2009) (0)
- Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments (2015) (0)
- New Syndrome Associated with Germline Variants in TRAF7 (2020) (0)
- Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia (2013) (0)
- Genetic Predictors Of Total Serum IgE Levels In Adult Chinese Females (2011) (0)
- The polygenic architecture of left ventricular mass mirrors the clinical epidemiology (2020) (0)
- Whole Genome Sequencing Association and Gene-by-Air-Pollution Interaction Analyses Identified KITLG as a Novel Baseline Lung Function Gene Candidate Among African American Children with Asthma (2020) (0)
- Table D-3, Genetic tests for Developmental Delay (2015) (0)
- 133 Evidence of heritability of the common form of atrial fibrillation (2005) (0)
- Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR) (2015) (0)
- P-309 IBD Causal Variant rs1887428 in the Promoter of JAK2 Demonstrates Differential Allelic Expression (2017) (0)
- Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies (2018) (0)
- Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets (2022) (0)
- 265 Genome-wide association study of hidradenitis suppurativa in a multi-ethnic cohort (2020) (0)
- Whole Exome Sequencing Analysis of Patients with Autosomal Recessive Hypophophatemic Rickets Identified Mutations in DMP1, ENPP1 and SLC34A3 (2015) (0)
- https://researchopenworld.com/analysis-of-copy-number-variations-and-knockdown-in-zebrafish-pronephros-identifies-novel-candidate-cakut-genes/# (2020) (0)
- Genetic Underpinnings of Asthma and Related Traits (2020) (0)
- Protein-6 and Coronary Artery Disease in 19 Case-Control Studies Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like (2012) (0)
- Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia (2023) (0)
- eP221: Increased expression of ZFPM2 bypasses SRY to drive 46,XX testicular development: A new mechanism of 46,XX DSD (2022) (0)
- KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (2018) (0)
- Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders (2023) (0)
- A mitochondrial bioenergetic hypothesis for autism spectrum disorder (570.3) (2014) (0)
- Genes associated with cancer, schizophrenia and type 2 diabetes in the circassian and Chechen populations in Jordan (2018) (0)
- Genetic Tests for Developmental Disabilities (2015) (0)
- Abstract 5258: Genomic characterization and targeted resequencing of high-risk neuroblastoma (the neuroblastoma TARGET) (2010) (0)
- Genetic Interactions Between Genes Discovered By Genome-wide Expression Profiling Are Associated With The Risk Of ARDS Development (2010) (0)
- Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling (2017) (0)
- Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments (2016) (0)
- Abstract 2310: Identification of novel essential genes for prostate cancer metastasis by genome scale CRISPR approaches (2021) (0)
- Lack of Association Between the Trp 719 Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control (2017) (0)
- Table 2, “Top hits” in idiopathic epilepsy GWAS1 (2012) (0)
- Ndfip1 Regulates T Cell-mediated Gastrointestinal Inflammation and Susceptibility to Inflammatory Bowel Disease (2010) (0)
- P027 DIFFERENTIAL BINDING OF RBPJ AND CUX1 TO IBD CAUSAL SNP RS1887428 MODIFIES EXPRESSION OF JAK2 (2018) (0)
- Genetic correlations between COVID-19 and a variety of diseases and other medically relevant traits (2020) (0)
- Genetic Analysis for Type 1 Diabetes Genes in Juvenile Dermatomyositis Unveils Genetic Disease Overlap. (2022) (0)
- Characterizing Variability of EHR-Driven Phenotype Definitions (2022) (0)
- Trans-ethnic Genomic Informed Risk Assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium Study (2022) (0)
- A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling (2017) (0)
- 171 Hidradenitis suppurativa genome-wide association study (2021) (0)
- Genome-Wide Association Study of Asthma Exacerbation in African Americans Identify PTGER3 as New Susceptibility Gene (2020) (0)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (0)
- Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study (2020) (0)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (0)
- Novel gene discovery across a large cohort of patients with syndromic craniofacial anomalies (2016) (0)
- Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness (2022) (0)
- Comparative Genetic Analysis of Type 1 Diabetes and Inflammatory Bowel Disease (2011) (0)
- Genome-Wide Association Study Detects Common SNP Among Pediatric Patients with Obstructive Sleep Apnea (2020) (0)
- Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure (2019) (0)
- 328 Data driven approach identifies hidradenitis suppurativa subtypes in electronic health records (2021) (0)
- AUTOANTIBODIES AGAINST ANGIOTENSIN II TYPE 1 RECEPTOR AND LEFT VENTRICULAR REMODELING CHANGES IN RESPONSE TO PERINDOPRIL TREATMENT (2013) (0)
- Genetic variance in Nitric Oxide Synthase and Endothelin Genes among children with and without Endothelial Dysfunction (2013) (0)
- Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing (2022) (0)
- 385 Whole genome homozygosity mapping to identify candidate genes in epidermolysis bullosa in consanguineous families (2016) (0)
- Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children (2022) (0)
- Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease (2018) (0)
- A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes (2021) (0)
- List of Contributors (2020) (0)
- Autosomal dominant Kenny-Caffey syndrome with congenital hypoparathyroidism, short stature and normal intellect: a case report (2015) (0)
- SU59DNA METHYLATION ASSOCIATED TO PSYCHOPATHOLOGY IN CHILDREN AND ADOLESCENTS: DETECTING DIFFERENTIALLY METHYLATED REGIONS (2019) (0)
- Genomic Susceptibility to the Development of Bronchiolitis Obliterans (2020) (0)
- O-021 Expression of Transcripts in Ulcerative Colitis Biopsies and Genome-wide Association Study Loci Overlap Substantially in Pathway-based Analysis (2013) (0)
- Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly (2022) (0)
- Identification of Mitochondrial DNA Variants Associated With Risk of Neuroblastoma. (2022) (0)
- Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder (2018) (0)
- SA115 EVALUATION OF GENE EXPRESSION IN EARLY SUBSTANCE ABUSE (2019) (0)
- Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency (2011) (0)
- Combined application of genetic and polygenic risk scores for type 1 diabetes risk prediction (2021) (0)
- Genetic, Genomic And Clinical Characterization Of Cystic Fibrosis In A Pediatric Population (2011) (0)
- Genome-wide association study unravels genetic determinants of the atopic march (2016) (0)
- Functional characterization of Decoy Receptor (DcR3) in EBV transformed cell lines from IBD patients of different allelic background and role in disease pathogenesis (2019) (0)
- Acknowledgement to the Reviewers (2013) (0)
- Asthmatic patients exhibit different gene expression profiles, depending on their sensitivity to glucocorticoids (2002) (0)
- An Acquired Mutation in Deubiquitinating Enzyme USP11 Associated with Clonal Hematopoiesis in Diamond Blackfan Anemia (2014) (0)
- Allele frequency distributions of all HapMap SNPs (black), Illumina 1M SNPs (blue), and GWAS associations in CEU (red), and simulated synthetic associations (green). (2013) (0)
- Abstract 14663: High Rate of Arrhythmia Diagnoses Following Return of Pathogenic/likely Pathogenic Variants in an Unselected Population (2020) (0)
- Insulin resistance impairs human liver progenitor cell function in vitro: Consequences for liver injury and tumorigenesis in metabolic disease and type 2 diabetes? (2015) (0)
- Table 1, “Top hits”1 in focal epilepsy GWAS2 (2012) (0)
- BAG3: Nature’s Quintessential Multi-Functional Protein Functions as a Ubiquitous Intra-Cellular Glue (2023) (0)
- TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome (2022) (0)
- GW24-e0403 Autoantibodies against angiotensin II type 1 receptor-positive patients with heart failure have better clinical efficacy to perindopril treatment (2013) (0)
- A genome-wide association study of polycystic ovary syndrome identified from 1 electronic health records (2019) (0)
- A Recurrent 6-bp Intronic Deletion in NESP55 with Reduced Penetrance in Pseudohypoparathyroidism Type 1b (2018) (0)
- Omnigenic Impact of Copy Number Variants on Cognition and Psychopathology in the Philadelphia Neurodevelopmental Cohort (2021) (0)
- Effects of the interaction between genetic factors and maltreatment on child and adolescent psychiatric disorders (2019) (0)
- Performance of model-based multifactor dimensionality reduction methods for epistasis detection by controlling population structure (2021) (0)
- Atypical Griscelli Syndrome 2 Caused by a Novel Human RAB27A Mutation that Selectively Affects Protein Function in Different Cell Types (2015) (0)
- 570 A genome-wide association study in an African American cohort implicates IL-12A in acne (2021) (0)
- IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes (2018) (0)
- applications the human genome : A data resource for clinical and research High-resolution mapping and analysis of copy number variations in Material Supplemental (2009) (0)
- 521 Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa (2017) (0)
- Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results. (2022) (0)
- Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome (2019) (0)
- Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders (2017) (0)
- Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders (2017) (0)
- An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities (2022) (0)
- Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations (2020) (0)
- Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies (2015) (0)
- Abstract 14363: Genetics of Coronary Atherosclerotic Plaque Rupture and Myocardial Infarction (2010) (0)
- Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract (2019) (0)
- The Genetic Basis of Sleep and Sleep Disorders: Genome-wide association study (GWAS) approaches to sleep phenotypes (2013) (0)
- University of Groningen Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci Tragante, (2014) (0)
- B-36Relationships between Body Mass Index and Social Cognition among 8–19 Year-Olds (2014) (0)
- Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa (2019) (0)
- Novel KITLG regulatory variants are associated with lung function in African American children with asthma (2020) (0)
- Identification of pediatric onset of inflammatory bowel disease-loco and methods of use thereof for diagnosis and treatment thereof (2009) (0)
- MONTAGE: a new tool for high-throughput detection of mosaic copy number variation (2021) (0)
- Abstract 11837: A Vascular Endothelial Growth Factor a (VEGFA) Genetic Variant is Associated With Improved Ventricular Function and Transplant-Free Survival After Surgery for Non-Syndromic Congenital Heart Defects (2014) (0)
- Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci (2017) (0)
- Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States (2021) (0)
- Rare neurological manifestations in a Saudi Arabian patient with Ehlers–Danlos syndrome and a novel homozygous variant in the TNXB gene (2021) (0)
- Detecting multiple differentially methylated CpG sites and regions related to dimensional psychopathology in youths (2019) (0)
- Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants Myocardial Infarction Genetics Consortium * (2009) (0)
- Genome-Wide Meta-Analysis Identifies a Novel Low Frequency STK39 Variant of Large Effect on Risk of Type 1 Diabetes (2018) (0)
- Erratum to: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence (2016) (0)
- 366 Adverse reproductive outcomes among women with hidradenitis suppurativa (2021) (0)
- Autism Spectrum Disorders : The Role of Genetics in Diagnosis and Treatment 52 2 . Heritability of ASDs (0)
- Author response for "Combined Application of Genetic and Polygenic Risk Score for Type 1 Diabetes Risk Prediction" (2021) (0)
- Genetic predisposition to longer telomere length and risk of childhood, adolescent and adult-onset ependymoma (2020) (0)
- Forthcoming articles (1992) (0)
- Genome-Wide Association Study of Bronchodilator Drug Response (BDR) in Minority Children with Asthma Provides Insights into Its Genetic Risk Factors (0)
- M1006 Copy Number Variation: A Potential Susceptibility Factor for Biliary Atresia (2009) (0)
- Genetic Analysis of a Thoracic Insufficiency Syndrome Cohort from the Children's Hospital of Philadelphia (2020) (0)
- NOVEL BHLHE41 VARIANT ASSOCIATED WITH SHORT SLEEP AND RESISTANCE TO SLEEP LOSS (2014) (0)
- Trans-ethnic Polygenic Risk Scores for Body Mass Index: An International Hundred K+ Cohorts Consortium Study (2023) (0)
- BIOINFORMATICS ORIGINAL Multiple testing in genome-wide association studies via hidden Markov models (2009) (0)
- analyses of exonic number variants in a family-based study point to novel autism susceptibility genes. (2009) (0)
- NEXT-GENERATION SEQUENCING OF THE BCHE LOCUS IDENTIFIES A FUNCTIONAL SNP ASSOCIATED WITH ALZHEIMER'S DISEASE BIOMARKERS AND AGE OF ONSET (2014) (0)
- Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual (2021) (0)
- Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk (2017) (0)
- Erratum: Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium. (2023) (0)
- Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence (2014) (0)
- EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA (2014) (0)
- Inflammatory Bowel Disease : Global view Application of computational methods in genetic study of inflammatory bowel disease (2016) (0)
- 854 GWAS of acne vulgaris among African Americans (2019) (0)
- A potential role for genes in asthma independent of atopy (2002) (0)
- Accurate High-Resolution HLA Imputation Using Genotype Data.: Abstract# 1330 (2014) (0)
- Identification of Mutations in TBX1 and AIRE in Isolated Hypoparathyroidism Patients (2015) (0)
- Lange Syndrome-overlapping phenotypes (2014) (0)
- Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism (2022) (0)
- 19-OR New directions in HLA and disease associations: The search beyond HLAs using genome-wide SNP-genotyping and next generation sequencing (2011) (0)
- Inflammatory consequences of child maltreatment (2021) (0)
- Multicentre Prospective Study of SNP-Based cfDNA Screening for Aneuploidy with Genetic Confirmation in 18 497 Pregnancies (2022) (0)
- Epistasis associated to inflammatory bowel disease (IBD) in humans (2015) (0)
- Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling (2018) (0)
- Syndromes and the study of autism (2013) (0)
- Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort (2023) (0)
- A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder (2021) (0)
- Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci (2021) (0)
- Genomic Disorders in Chronic Kidney Disease Across the Lifespan. (2022) (0)
- Childhood exposures to environmental chemicals and neurodevelopmental outcomes in congenital heart disease (2022) (0)
- Genetic Predictors Of Bronchial Reactivity In Adult Chinese Females (2010) (0)
- Epigenetics in child psychiatry (2021) (0)
- Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease (2020) (0)
- Author Correction: 137 ancient human genomes from across the Eurasian steppes (2018) (0)
- Whole Genome Sequencing Reveals Novel Intragenic Deletions of GNAS as Causes of Pseudohypoparathyroidism Type 1a (2018) (0)
- 1.29 Glutamatergic Network Gene Mutation, Subcortical Brain Volume, and Psychiatric Functioning in Subjects With Attention-Deficit/Hyperactivity Disorder (ADHD) (2017) (0)
- Mendelian randomization analysis of plasma levels of CD209 and MICB proteins and the risk of varicose veins of lower extremities (2022) (0)
- Association of genetic variants with macronutrient intake in Circassian and Chechan populations in relation to diabetes (2018) (0)
- 4 The Genetics of Autism Spectrum Disorders (0)
- Genomic Susceptibility to the Development of Pediatric Interstitial Lung Disease (2019) (0)
- S1PARENT-OF-ORIGIN AND MATERNAL EFFECTS IN ATTENTION DEFICIT HYPERACTIVITY DISORDER (2019) (0)
- The copy number variation landscape of congenital anomalies of the kidney and urinary tract (2018) (0)
- M95 SCHIZOPHRENIA RELATED MIRNAS SELECTION IN A BRAZILIAN SAMPLE (2019) (0)
- P286: Single vs dual disease causing variant load in a pediatric cohort with congenital anomalies and cancer (2023) (0)
- List of contributors (2021) (0)
- Machine learning derived risk prediction of anorexia nervosa (2015) (0)
- A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay (2022) (0)
- ETMM-07. HYPOXIC REGULATION OF METABOLIC AND STRUCTURAL GENES IN T98 GLIOBLASTOMA MULTIFORME CELLS BY RNA SEQUENCING (2021) (0)
- DAMAGING GENETIC VARIANTS IN PRO-ANGIOGENIC GENES IMPAIR GROWTH IN FETUSES WITH CRITICAL CONGENITAL CARDIAC DEFECTS (2019) (0)
- Table D-5, Genetic tests for Intellectual Disability (2015) (0)
- Germline pathogenic variants in 786 neuroblastoma patients (2023) (0)
- Corrigendum Re: Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. Am J Med Genet A. 2021;185A(6):1649–1665. Doi:10.1002/ajmg.a.62124” (2022) (0)
- Abstract 13073: Chr10q11 Atherosclerosis Locus Modulation of Plasma and Adipose CXCL12 to in vivo Inflammation (2011) (0)
- Linkage to Apnea–Hypopnea Index Across the Life-Span (2012) (0)
- Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism (2022) (0)
- A novel mutation in the SLC25A12 gene causing mitochondrial aspartate/glutamate carrier 1 (AGC1) deficiency (2014) (0)
- Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling (2018) (0)
- Exome and RNA‐Seq analyses of an incomplete penetrance variant in USP9X in female‐specific syndromic intellectual disability (2022) (0)
- 6.67 GLUTAMATERGIC NETWORK GENE MUTATIONS IN ADOLESCENTS AND CHILDREN WITH ATTENTION-DEFICIT/HYPERACTIVITY DISORDER (2016) (0)
- Genetic Testing Overview (2015) (0)
- Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions. (2023) (0)
- Identification of novel loci in obstructive sleep apnea in European American and African American children. (2022) (0)
- Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator (2023) (0)
- Pharmacogenetics and functional genomics in asthma. (2009) (0)
- Phenome-wide association studies across large population cohorts support drug target validation (2018) (0)
- Principles of Psychiatric Genetics: Attention-deficit hyperactivity disorder (2012) (0)
- Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence (2019) (0)
- Functional Genomics and Proteomics in Allergy Research (2010) (0)
- SU4 GENOME-WIDE EXAMINATION OF PARENT-OF-ORIGIN EFFECTS IN CHILDREN WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER (2019) (0)
- Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (2020) (0)
- RUNX1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cells: Mechanistic studies and drug correction (2020) (0)
- responsiveness of IgE-sensitized airway smooth muscle IL-13-dependent autocrine signaling mediates altered (2016) (0)
- Identification of copy number variants contributing to hallux valgus (2023) (0)
- 246 : TSLP-mediated extramedullary hematopoiesis promotes allergic inflammation (2013) (0)
- 246 : TSLP-mediated extramedullary hematopoiesis promotes allergic inflammation (2013) (0)
- Award Number: W81XWH-11-1-0507 TITLE: Exploration into the Genetics of Food Allergy (2014) (0)
- Monogenic hypertension-a type of "curable" hypertension. (2023) (0)
- Elevated levels of the cytokine LIGHT in Crohn's disease (2021) (0)
- ThG Cells: A Distinct T Helper Cell Subset with Lineage Characteristics (2019) (0)
- Food Allergen Specificity of Circulating T cells in Eosinophilic Esophagitis Patients (2020) (0)
- Interpretation of Maturity-Onset Diabetes of the Young Genetic Variants Based on American College of Medical Genetics and Genomics Criteria: Machine-Learning Model Development (Preprint) (2020) (0)
- Dissecting mechanisms underlying the pathogenesis of eosinophilic esophagitis (HYP6P.263) (2014) (0)
- Targeting CSF-1 ameliorates experimental autoimmune encephalomyelitis by depleting inflammatory monocytes and microglia in the central nervous system without affecting quiescent microglia (2020) (0)
- Pharmacogenomics (2002) (0)
- Elevated Levels of the Cytokine LIGHT in Pediatric Crohn's Disease. (2023) (0)
- Thymic stromal lymphopoietin-mediated extramedullary hematopoiesis promotes allergic inflammation (INC5P.328) (2014) (0)
- Dysregulation of the Desmosomal Cadherin Desmoglein-1 in Eosinophilic Esophagitis (2011) (0)
- Performance of ultrasound, maternal serum screening and cell-free DNA for the detection of 22q11.2 deletion syndrome (2021) (0)
- University of Southern Denmark Genetic Discrimination Between LADA and Childhood-Onset Type 1 Diabetes Within the MHC Mishra, (2020) (0)
- Ndfip1 Regulates Adaptive and Innate Immune Responses in a Model of Inflammatory Bowel Disease (90.17) (2009) (0)
- Abstract PR001: Oncogene-induced matrix reorganization controls CD8+ T cell immunity in the UPS microenvironment (2022) (0)
- CLEC16A Associates with Human Common Variable Immunodeficiency and Influences Murine B Cell Survival and Function (2014) (0)
- GATA1 controls numbers of hematopoietic progenitors and their response to autoimmune neuroinflammation (2022) (0)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
- Effect of micro-osteoperforations on the gene expression profile of the periodontal ligament of orthodontically moved human teeth (2021) (0)
- TNFAIP8 controls murine intestinal stem cell homeostasis and regeneration by regulating microbiome-induced Akt signaling (2020) (0)
- CLEC16A—An Emerging Master Regulator of Autoimmunity and Neurodegeneration (2023) (0)
- A Type I interferon response is associated with increased mTOR activation in idiopathic multicentric Castleman disease (2020) (0)
- Differences in self-reported food allergy and food-associated anaphylaxis by race-ethnicity among SAPPHIRE cohort participants. (2022) (0)
- Oncogene-induced matrix reorganization controls CD8+ T cell function in the tumor microenvironment (2022) (0)
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