Mark Daly
#30,618
Most Influential Person Now
Geneticist at Harvard University and the University of Helsinki, Director, Institute for Molecular Medicine Finland
Mark Daly 's AcademicInfluence.com Rankings
Mark Daly biology Degrees
Biology
#1467
World Rank
#2459
Historical Rank
#729
USA Rank
Genetics
#99
World Rank
#134
Historical Rank
#64
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Biology
Mark Daly 's Degrees
- Bachelors Biology University of Helsinki
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Why Is Mark Daly Influential?
(Suggest an Edit or Addition)According to Wikipedia, Mark Joseph Daly is Director of the Finnish Institute for Molecular Medicine at the University of Helsinki, a Professor of Genetics at Harvard Medical School, Chief of the Analytic and Translational Genetic Unit at Massachusetts General Hospital, and a member of the Broad Institute of MIT and Harvard. In the early days of the Human Genome Project, Daly helped develop the genetic model by which linkage disequilibrium could be used to map the haplotype structure of the human genome. In addition, he developed statistical methods to find associations between genes and disorders such as Crohn's disease, inflammatory bowel disease, autism and schizophrenia.
Mark Daly '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
- PLINK: a tool set for whole-genome association and population-based linkage analyses. (2007) (25309)
- The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. (2010) (19260)
- Haploview: analysis and visualization of LD and haplotype maps (2005) (14057)
- A framework for variation discovery and genotyping using next-generation DNA sequencing data (2011) (9523)
- MAPMAKER: an interactive computer package for constructing primary genetic linkage maps of experimental and natural populations. (1987) (6873)
- PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes (2003) (6859)
- Biological Insights From 108 Schizophrenia-Associated Genetic Loci (2014) (6445)
- The Structure of Haplotype Blocks in the Human Genome (2002) (5687)
- Initial sequencing and comparative analysis of the mouse genome. (2002) (4609)
- A second generation human haplotype map of over 3.1 million SNPs (2007) (4567)
- The mutational constraint spectrum quantified from variation in 141,456 humans (2019) (4530)
- Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease (2012) (4007)
- The landscape of somatic copy-number alteration across human cancers (2010) (3297)
- LD Score regression distinguishes confounding from polygenicity in genome-wide association studies (2014) (3142)
- Parametric and nonparametric linkage analysis: a unified multipoint approach. (1996) (3023)
- Genome-wide association studies for common diseases and complex traits (2005) (2901)
- Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels (2007) (2888)
- A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms (2001) (2879)
- A Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene (2006) (2867)
- Integrating common and rare genetic variation in diverse human populations (2010) (2731)
- An Atlas of Genetic Correlations across Human Diseases and Traits (2015) (2653)
- Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease (2008) (2621)
- 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)
- Genome sequence, comparative analysis and haplotype structure of the domestic dog (2005) (2448)
- Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis (2013) (2439)
- A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function (2006) (2175)
- Synaptic, transcriptional, and chromatin genes disrupted in autism (2014) (2080)
- Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs (2013) (2011)
- Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study (2012) (2002)
- Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes (2008) (1882)
- Efficiency and power in genetic association studies (2005) (1834)
- Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis (2007) (1825)
- Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2010) (1801)
- High-resolution haplotype structure in the human genome (2001) (1798)
- Schizophrenia risk from complex variation of complement component 4 (2016) (1724)
- Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations (2015) (1712)
- Genome-wide association study identifies five new schizophrenia loci (2011) (1680)
- Efficient Control of Population Structure in Model Organism Association Mapping (2008) (1675)
- Patterns and rates of exonic de novo mutations in autism spectrum disorders (2012) (1645)
- Partitioning heritability by functional annotation using genome-wide association summary statistics (2015) (1615)
- Rare chromosomal deletions and duplications increase risk of schizophrenia (2008) (1506)
- Genetic and Epigenetic Fine-Mapping of Causal Autoimmune Disease Variants (2014) (1487)
- Genetic Mapping in Human Disease (2008) (1425)
- Risk alleles for multiple sclerosis identified by a genomewide study. (2007) (1380)
- Replicating genotype–phenotype associations (2007) (1367)
- Association between microdeletion and microduplication at 16p11.2 and autism. (2008) (1338)
- Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 (2011) (1315)
- Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder (2018) (1248)
- Clinical use of current polygenic risk scores may exacerbate health disparities (2019) (1221)
- Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder (2008) (1189)
- Guidelines for investigating causality of sequence variants in human disease (2014) (1160)
- The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes (2000) (1150)
- Identification of common genetic risk variants for autism spectrum disorder (2019) (1140)
- A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects: CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium (2016) (1125)
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci (2015) (1106)
- Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) (1102)
- Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants (2009) (1100)
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2018) (1064)
- Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes (2019) (1048)
- Integrated detection and population-genetic analysis of SNPs and copy number variation (2008) (980)
- A mega-analysis of genome-wide association studies for major depressive disorder (2013) (979)
- HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin (2009) (956)
- Scaling accurate genetic variant discovery to tens of thousands of samples (2017) (947)
- Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4 (2011) (929)
- The genetic architecture of type 2 diabetes (2016) (927)
- Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations. (2017) (923)
- A genetic linkage map of the human genome (1987) (882)
- A framework for the interpretation of de novo mutation in human disease (2014) (869)
- Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. (2015) (858)
- Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs (2008) (838)
- High-throughput discovery of novel developmental phenotypes (2016) (824)
- Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease (2001) (820)
- Guilt by association (2000) (808)
- Genome-wide association analysis of metabolic traits in a birth cohort from a founder population (2008) (803)
- Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci (2009) (799)
- Common variants associated with plasma triglycerides and risk for coronary artery disease (2013) (767)
- A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC (2006) (764)
- The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. (2000) (763)
- Estimation of the multiple testing burden for genomewide association studies of nearly all common variants (2008) (758)
- Common deletion polymorphisms in the human genome (2006) (754)
- Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease (2011) (747)
- Seven New Loci Associated with Age-Related Macular Degeneration (2013) (741)
- Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects (2016) (736)
- Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders (2019) (724)
- Whole-genome association study of bipolar disorder (2008) (714)
- A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus (2006) (680)
- Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) (676)
- Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease (2008) (674)
- Calibrating a coalescent simulation of human genome sequence variation. (2005) (668)
- Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. (2010) (630)
- Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration (2006) (626)
- Genome-wide association identifies multiple ulcerative colitis susceptibility loci (2010) (621)
- A comprehensive genetic map of the mouse genome (1996) (615)
- Testing for an Unusual Distribution of Rare Variants (2011) (595)
- Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus (2008) (592)
- Two independent alleles at 6q23 associated with risk of rheumatoid arthritis (2007) (592)
- Disruption of neurexin 1 associated with autism spectrum disorder. (2008) (573)
- Variation in genome-wide mutation rates within and between human families (2011) (571)
- Searching for missing heritability: Designing rare variant association studies (2014) (564)
- Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study (2016) (555)
- Common variants at CD40 and other loci confer risk of rheumatoid arthritis (2008) (550)
- De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies (2015) (544)
- Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries (2012) (543)
- Pervasive Sharing of Genetic Effects in Autoimmune Disease (2011) (537)
- Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. (2000) (532)
- The ExAC browser: displaying reference data information from over 60 000 exomes (2016) (526)
- Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers (2015) (520)
- Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes (2017) (517)
- Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. (2014) (510)
- Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS). (2005) (499)
- A comprehensive genetic map of the mouse genome (1996) (497)
- A genetic linkage map of the laboratory rat, Rattus norvegicus (1995) (494)
- Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits (2010) (486)
- Proteins Encoded in Genomic Regions Associated with Immune-Mediated Disease Physically Interact and Suggest Underlying Biology (2011) (485)
- Common variants at five new loci associated with early-onset inflammatory bowel disease (2009) (479)
- Methods for high-density admixture mapping of disease genes. (2004) (477)
- The mosaic structure of variation in the laboratory mouse genome (2002) (476)
- Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. (2010) (459)
- Mapping the human genetic architecture of COVID-19 (2021) (455)
- Mapping the human genetic architecture of COVID-19 (2021) (455)
- Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus (2007) (454)
- Genomewide association studies: history, rationale, and prospects for psychiatric disorders. (2009) (453)
- Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions (2009) (453)
- Variation in complement factor 3 is associated with risk of age-related macular degeneration (2007) (443)
- Ipr1 gene mediates innate immunity to tuberculosis (2005) (443)
- Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse (2000) (438)
- A sequence-based variation map of 8.27 million SNPs in inbred mouse strains (2007) (431)
- Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC) (2010) (426)
- Whole population, genome-wide mapping of hidden relatedness. (2009) (426)
- Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles. (2011) (421)
- Erratum: Detection and interpretation of shared genetic influences on 42 human traits (2016) (417)
- Common Single Nucleotide Polymorphisms in TCF7L2 Are Reproducibly Associated With Type 2 Diabetes and Reduce the Insulin Response to Glucose in Nondiabetic Individuals (2006) (395)
- A structural variation reference for medical and population genetics (2020) (394)
- Validating, augmenting and refining genome-wide association signals (2009) (394)
- Fine-mapping inflammatory bowel disease loci to single variant resolution (2017) (393)
- Genome‐wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations (2008) (377)
- Impaired Autophagy of an Intracellular Pathogen Induced by a Crohn's Disease Associated ATG16L1 Variant (2008) (368)
- High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency (2010) (366)
- Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders (2016) (363)
- Mapping genomic loci implicates genes and synaptic biology in schizophrenia (2022) (361)
- Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa. (2017) (357)
- Quantifying prion disease penetrance using large population control cohorts (2016) (352)
- Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders (2016) (351)
- Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1 (2010) (350)
- Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population (2014) (348)
- Variation near complement factor I is associated with risk of advanced AMD (2009) (345)
- Genetic variants at CD28, PRDM1, and CD2/CD58 are associated with rheumatoid arthritis risk (2009) (343)
- Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population (2015) (343)
- Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families (1996) (342)
- Genome-wide meta-analysis identifies new susceptibility loci for migraine (2013) (336)
- Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders (2008) (333)
- Comparative genetic architectures of schizophrenia in East Asian and European populations (2018) (329)
- LRRK2 Is Involved in the IFN-γ Response and Host Response to Pathogens (2010) (328)
- Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability (2017) (328)
- Human genome sequence variation and the influence of gene history, mutation and recombination (2002) (325)
- Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. (2004) (322)
- Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration (2013) (320)
- Complex host genetics influence the microbiome in inflammatory bowel disease (2014) (313)
- New models of collaboration in genome-wide association studies: the Genetic Association Information Network (2007) (313)
- A high-density screen for linkage in multiple sclerosis. (2005) (308)
- Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays (2000) (307)
- A rare penetrant mutation in CFH confers high risk of age-related macular degeneration (2011) (305)
- A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4 (2001) (304)
- Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia (2017) (301)
- Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense (2014) (298)
- Evaluating and improving power in whole-genome association studies using fixed marker sets (2006) (298)
- Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples (2016) (296)
- Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. (2009) (291)
- CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure. (2002) (282)
- Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion (2012) (279)
- Genetic architecture of complex traits: Large phenotypic effects and pervasive epistasis (2008) (273)
- Genome‐wide association scan of attention deficit hyperactivity disorder (2008) (271)
- Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect (2005) (268)
- Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration (2011) (264)
- Genetics of 35 blood and urine biomarkers in the UK Biobank (2019) (262)
- Abundant contribution of short tandem repeats to gene expression variation in humans (2015) (260)
- Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization (2014) (260)
- Renal disease susceptibility and hypertension are under independent genetic control in the fawn-hooded rat (1996) (258)
- International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci (2019) (258)
- Stochastic yet biased expression of multiple Dscam splice variants by individual cells (2004) (256)
- The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity (2015) (256)
- Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases (2009) (256)
- A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia (2013) (253)
- 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)
- Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders (2013) (248)
- Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. (2004) (247)
- Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity (2017) (244)
- Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes (2013) (238)
- Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene. (2010) (236)
- Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. (1995) (235)
- Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. (2005) (235)
- Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease (2018) (233)
- Transferability of tag SNPs in genetic association studies in multiple populations (2006) (231)
- Regional missense constraint improves variant deleteriousness prediction (2017) (230)
- Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration (2012) (230)
- Discovery of the first genome-wide significant risk loci for ADHD (2017) (229)
- A cross-population atlas of genetic associations for 220 human phenotypes (2021) (229)
- Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing (2013) (228)
- A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population (2001) (228)
- Effect of predicted protein-truncating genetic variants on the human transcriptome (2015) (226)
- Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies (2019) (226)
- Genetic mapping of a murine locus controlling development of T helper 1/T helper 2 type responses. (1996) (219)
- Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes (2007) (217)
- Genome-wide detection and characterization of positive selection in human populations (2007) (217)
- Extremely low-coverage sequencing and imputation increases power for genome-wide association studies (2012) (217)
- Genetic Analysis of Human Traits In Vitro: Drug Response and Gene Expression in Lymphoblastoid Cell Lines (2008) (215)
- A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy (2014) (214)
- Histocompatible Embryonic Stem Cells by Parthenogenesis (2007) (214)
- A framework for interpreting genome-wide association studies of psychiatric disorders (2009) (213)
- The functional spectrum of low-frequency coding variation (2011) (210)
- zCall: a rare variant caller for array-based genotyping: Genetics and population analysis (2012) (209)
- The iPSYCH2012 case–cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders (2017) (209)
- Predicting Polygenic Risk of Psychiatric Disorders (2019) (207)
- Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder (2015) (206)
- Discovery of stimulation-responsive immune enhancers with CRISPR activation (2017) (203)
- The role of the CD58 locus in multiple sclerosis (2009) (200)
- Ulcerative colitis loci on chromosomes 1p36 and 12q15 identified by genome-wide association study (2008) (199)
- A Meta-Analysis of Genome-Wide Association Scans Identifies IL18RAP, PTPN2, TAGAP, and PUS10 As Shared Risk Loci for Crohn's Disease and Celiac Disease (2011) (199)
- Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci (2015) (199)
- Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder (2018) (196)
- An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder (2018) (194)
- Genome-wide enhancer maps link risk variants to disease genes (2021) (193)
- Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. (2006) (191)
- Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22. (2004) (189)
- Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. (2013) (189)
- Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors. (2011) (186)
- De novo variants in neurodevelopmental disorders with epilepsy (2017) (186)
- Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. (2000) (184)
- Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers (2020) (182)
- Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers (2020) (182)
- A second major histocompatibility complex susceptibility locus for multiple sclerosis (2007) (181)
- Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis (2013) (180)
- The vibrator Mutation Causes Neurodegeneration via Reduced Expression of PITPα: Positional Complementation Cloning and Extragenic Suppression (1997) (179)
- Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. (2012) (176)
- Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals (2019) (176)
- The genome-wide patterns of variation expose significant substructure in a founder population. (2008) (176)
- Additional support for schizophrenia linkage on chromosomes 6 and 8: a multicenter study. Schizophrenia Linkage Collaborative Group for Chromosomes 3, 6 and 8. (1996) (175)
- An integrated haplotype map of the human major histocompatibility complex. (2003) (174)
- IBD5 is a general risk factor for inflammatory bowel disease: replication of association with Crohn disease and identification of a novel association with ulcerative colitis. (2003) (173)
- Variant TREM2 as risk factor for Alzheimer's disease. (2013) (172)
- The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders (2012) (171)
- Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation (2018) (171)
- Patterns of genic intolerance of rare copy number variation in 59,898 human exomes (2016) (170)
- WHAP: haplotype-based association analysis (2007) (170)
- Case-control genome-wide association study of attention-deficit/hyperactivity disorder. (2010) (168)
- Guilt beyond a reasonable doubt (2007) (167)
- Genetic Consortium for Anorexia Nervosa of the Wellcome Trust Case Control Consortium (2015) (167)
- Genetic variation in laboratory mice (2005) (164)
- Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches (2013) (163)
- Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. (2011) (161)
- RICOPILI: Rapid Imputation for COnsortias PIpeLIne (2019) (157)
- Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study. (2017) (157)
- The role of the Toll receptor pathway in susceptibility to inflammatory bowel diseases (2007) (155)
- Accurately Assessing the Risk of Schizophrenia Conferred by Rare Copy-Number Variation Affecting Genes with Brain Function (2010) (154)
- Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer (2010) (154)
- Rare coding variants in ten genes confer substantial risk for schizophrenia (2022) (154)
- Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. (2013) (149)
- Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan (2003) (149)
- Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. (2013) (147)
- A genome-wide scan for common variants affecting the rate of age-related cognitive decline (2012) (146)
- Efficient multipoint linkage analysis through reduction of inheritance space. (2001) (145)
- Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders (2013) (144)
- Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls (2013) (143)
- Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles (2014) (141)
- Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (2014) (140)
- Common SNPs in HMGCR in Micronesians and Whites Associated With LDL-Cholesterol Levels Affect Alternative Splicing of Exon13 (2008) (140)
- A molecular marker based linkage map of Vitis. (1995) (140)
- IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes (2018) (139)
- A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment (2019) (138)
- A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder (2017) (136)
- Exact multipoint quantitative-trait linkage analysis in pedigrees by variance components. (2000) (136)
- Survey of variation in human transcription factors reveals prevalent DNA binding changes (2016) (133)
- Genome scan of schizophrenia. (1996) (129)
- Autism spectrum disorder severity reflects the average contribution of de novo and familial influences (2014) (129)
- Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia. (2006) (129)
- Genetic analysis of ozone-induced acute lung injury in sensitive and resistant strains of mice (1997) (129)
- DGAT1 mutation is linked to a congenital diarrheal disorder. (2012) (128)
- Exome Aggregation Consortium (2016) (125)
- BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. (2015) (123)
- Association of the dopamine beta hydroxylase gene with attention deficit hyperactivity disorder: Genetic analysis of the Milwaukee longitudinal study (2003) (121)
- Genome‐wide association scan of the time to onset of attention deficit hyperactivity disorder (2008) (121)
- Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms (2014) (120)
- Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development (2012) (120)
- Exceptional Familial Clustering for Extreme Longevity in Humans (2000) (120)
- Common body mass index-associated variants confer risk of extreme obesity. (2009) (119)
- An Unexpectedly Complex Architecture for Skin Pigmentation in Africans (2017) (118)
- Lower-than-expected linkage disequilibrium between tightly linked markers in humans suggests a role for gene conversion. (2001) (117)
- Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae (2009) (117)
- Genome-wide scan in Portuguese Island families identifies 5q31–5q35 as a susceptibility locus for schizophrenia and psychosis (2004) (116)
- Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores (2015) (116)
- Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2017) (115)
- Serrate2 is disrupted in the mouse limb-development mutant syndactylism (1997) (113)
- Interpreting de novo Variation in Human Disease Using denovolyzeR (2015) (112)
- Host genetic variation and its microbiome interactions within the Human Microbiome Project (2018) (110)
- Bacterial, Fungal, and Viral Disease Resistance Loci Mapped in a Recombinant Inbred Common Bean Population (`Dorado'/XAN 176) (2000) (110)
- Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data (2016) (110)
- Genetic variation in myosin IXB is associated with ulcerative colitis. (2006) (108)
- Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration. (2011) (108)
- Autosomal monoallelic expression in the mouse (2012) (108)
- Refining genetic associations in multiple sclerosis (2008) (108)
- Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models. (2012) (107)
- Genetic correlation between amyotrophic lateral sclerosis and schizophrenia (2017) (107)
- Common risk variants identified in autism spectrum disorder (2017) (106)
- Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts (2013) (106)
- Phenome-wide association studies across large population cohorts support drug target validation (2018) (105)
- A high-density association screen of 155 ion transport genes for involvement with common migraine. (2008) (102)
- Fine Mapping in 94 Inbred Mouse Strains Using a High-Density Haplotype Resource (2010) (102)
- Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts (2019) (101)
- Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction (2011) (101)
- Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have a similar burden of rare protein-truncating variants (2019) (101)
- Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. (1997) (101)
- The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls (2018) (99)
- A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn's Disease and Human Gut Microbiome Composition. (2016) (99)
- Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels (2015) (99)
- Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine (2015) (98)
- Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease (2007) (98)
- A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. (2012) (97)
- Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration. (2014) (96)
- Genetic architecture of human plasma lipidome and its link to cardiovascular disease (2019) (96)
- Gender Disparity and Mutation Burden in Metastatic Melanoma. (2015) (95)
- Genetic Differences in the Immediate Transcriptome Response to Stress Predict Risk-Related Brain Function and Psychiatric Disorders (2015) (95)
- Association of Genetic Variants in NUDT15 With Thiopurine-Induced Myelosuppression in Patients With Inflammatory Bowel Disease (2019) (95)
- Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation. (2015) (94)
- Association of DLG5 R30Q variant with inflammatory bowel disease (2005) (93)
- Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations (2019) (92)
- Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease. (2015) (92)
- Complement genes contribute sex-biased vulnerability in diverse illnesses (2020) (92)
- Genome-wide association study implicates CHRNA2 in cannabis use disorder (2017) (91)
- Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets. (2011) (91)
- Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe). (2011) (90)
- Genome scan of schizophrenia (1998) (90)
- Segmental phylogenetic relationships of inbred mouse strains revealed by fine-scale analysis of sequence variation across 4.6 mb of mouse genome. (2004) (90)
- Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. (2001) (90)
- Genetic Coding Variant in GPR65 Alters Lysosomal pH and Links Lysosomal Dysfunction with Colitis Risk. (2016) (90)
- A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease (2019) (90)
- Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. (2010) (89)
- Transcript expression-aware annotation improves rare variant interpretation (2020) (89)
- Transcript expression-aware annotation improves rare variant interpretation (2020) (89)
- Evaluating drug targets through human loss-of-function genetic variation (2019) (86)
- Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping. (2004) (86)
- Evaluating drug targets through human loss-of-function genetic variation (2019) (86)
- Recessive gene disruptions in autism spectrum disorder (2019) (85)
- Ca2+/Calmodulin-Dependent Protein Kinase II Is a Modulator of CARMA1-Mediated NF-κB Activation (2006) (84)
- The International Psoriasis Genetics Study: assessing linkage to 14 candidate susceptibility loci in a cohort of 942 affected sib pairs. (2003) (84)
- Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study (2017) (84)
- Mapping and characterization of structural variation in 17,795 human genomes (2020) (84)
- Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. (2001) (84)
- Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men (2006) (83)
- Common Variants in the ENPP1 Gene Are Not Reproducibly Associated With Diabetes or Obesity (2006) (83)
- Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes. (2004) (83)
- Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. (2005) (82)
- C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions (2018) (82)
- Integrating Autoimmune Risk Loci with Gene-Expression Data Identifies Specific Pathogenic Immune Cell Subsets. (2011) (82)
- Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. (2012) (81)
- An open resource of structural variation for medical and population genetics (2019) (80)
- analyzing next-generation DNA sequencing data The Genome Analysis Toolkit : A MapReduce framework for Material Supplemental (2010) (80)
- Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (80)
- Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae. (2009) (79)
- Genetic association of Alzheimer's disease with multiple polymorphisms in alpha-2-macroglobulin. (2003) (79)
- Ultra-rare disruptive and damaging mutations influence educational attainment in the general population (2016) (79)
- Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes. (2005) (78)
- Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2019) (78)
- Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2019) (78)
- Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls (2018) (77)
- Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. (2018) (76)
- Cellular and inter-cellular rewiring of the human colon during ulcerative colitis (2019) (75)
- Using a Genome-Wide Scan and Meta-analysis to Identify a Novel IBD Locus and Confirm Previously Identified IBD Loci (2002) (75)
- Full-genome scan for linkage in 50 families segregating the bipolar affective disease phenotype. (2000) (75)
- Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia (2006) (74)
- Fine-Scale Genetic Structure in Finland (2017) (73)
- Heritability of the weight loss response to gastric bypass surgery. (2011) (73)
- IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci (2010) (72)
- ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration. (2011) (72)
- Parental phenotypes in family-based association analysis. (2005) (72)
- Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study. (2018) (71)
- Corrigendum: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study (2009) (71)
- The effect of LRRK2 loss-of-function variants in humans (2020) (69)
- The effect of LRRK2 loss-of-function variants in humans (2020) (69)
- Absence of linkage between inflammatory bowel disease and selected loci on chromosomes 3, 7, 12, and 16. (1998) (68)
- Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2017) (68)
- Association analysis of NOTCH4 loci in schizophrenia using family and population-based controls (2001) (67)
- Inherited myeloproliferative neoplasm risk impacts hematopoietic stem cells (2020) (67)
- Partitioning heritability by functional category using GWAS summary statistics (2015) (66)
- Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics (2014) (65)
- Polygenic burden in focal and generalized epilepsies (2019) (64)
- Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population (2016) (64)
- Corrigendum to “MAPMAKER: An interactive computer package for constructing primary genetic linkage maps of experimental and natural populations” [Genomics 1 (1987) 174–181] (2009) (64)
- Genome-wide association study of migraine implicates a common susceptibility variant on 8 q 22 . 1 (2010) (64)
- Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom (2016) (61)
- Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection (2021) (61)
- Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data (2019) (61)
- Identification of Novel Genes That Mediate Innate Immunity Using Inbred Mice (2009) (61)
- Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection (2021) (61)
- A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts (2020) (60)
- Germline mutations affecting Gα11 in hypoparathyroidism. (2013) (60)
- Diagnostic misclassification reduces the ability to detect linkage in inflammatory bowel disease genetic studies (2001) (60)
- Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects (2015) (60)
- Founder population-specific HapMap panel increases power in GWA studies through improved imputation accuracy and CNV tagging. (2010) (59)
- Selective modulation of autophagy, innate immunity, and adaptive immunity by small molecules. (2013) (58)
- Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease (2006) (58)
- New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis. (2015) (58)
- Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland. (2019) (58)
- Phenotypic extremes in rare variant study designs (2015) (58)
- A Novel Hybrid Yeast-Human Network Analysis Reveals an Essential Role for FNBP1L in Antibacterial Autophagy 1 (2009) (58)
- Weight loss after gastric bypass is associated with a variant at 15q26.1. (2013) (58)
- Predicting functional effects of missense variants in voltage-gated sodium and calcium channels (2019) (57)
- Haplotype sharing provides insights into fine-scale population history and disease in Finland (2017) (56)
- Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan (2019) (56)
- Genetic analysis of multiple sclerosis. (2003) (56)
- Cerebral small vessel disease genomics and its implications across the lifespan (2020) (56)
- Common variants at CD 40 and other loci confer risk of rheumatoid arthritis (2008) (56)
- Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk (2018) (55)
- Genetic architecture of tuberculosis resistance in a mouse model of infection (2006) (54)
- Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia (2016) (53)
- Associations of CFHR1–CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent (2010) (53)
- Established genetic risk factors do not distinguish early and later onset Crohn's disease (2009) (53)
- The role of polygenic risk and susceptibility genes in breast cancer over the course of life (2020) (53)
- A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. (2015) (52)
- Consistently replicating locus linked to migraine on 10q22-q23. (2008) (51)
- Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families (2018) (50)
- Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people. (2005) (50)
- A molecular-properties-based approach to understanding PDZ domain proteins and PDZ ligands. (2006) (50)
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism (2022) (49)
- No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins (2015) (49)
- Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (48)
- Germline Lysine-Specific Demethylase 1 (LSD1/KDM1A) Mutations Confer Susceptibility to Multiple Myeloma. (2018) (48)
- Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease. (2018) (47)
- Linkage thresholds for two-stage genome scans. (1998) (47)
- Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (2015) (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 genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort (2014) (46)
- Biases and reconciliation in estimates of linkage disequilibrium in the human genome. (2006) (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)
- Paternal-age-related de novo mutations and risk for five disorders (2017) (46)
- A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis (2015) (44)
- SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease. (2014) (44)
- GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer (2020) (44)
- Exome Sequencing in Suspected Monogenic Dyslipidemias (2015) (44)
- A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk (2017) (43)
- Current clinical use of polygenic scores will risk exacerbating health disparities (2018) (43)
- Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD (2016) (43)
- Common genetic variants differentially influence the transition from clinically defined states of fasting glucose metabolism (2012) (42)
- The critical needs and challenges for genetic architecture studies in Africa. (2018) (42)
- Ca2+/calmodulin-dependent protein kinase II is a modulator of CARMA1-mediated NF-kappaB activation. (2006) (42)
- Sodium channel mutation leading to saxitoxin resistance in clams increases risk of PSP (2010) (41)
- Genome-wide association study of serious blistering skin rash caused by drugs (2011) (41)
- Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency. (2013) (40)
- Shared Genetic Risk Factors Across Carbamazepine‐Induced Hypersensitivity Reactions (2019) (40)
- Integrated Genomics of Crohn’s Disease Risk Variant Identifies a Role for CLEC12A in Antibacterial Autophagy (2015) (40)
- An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. (2014) (40)
- Burden of unique and low prevalence somatic mutations correlates with cancer survival (2019) (39)
- A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer. (2016) (39)
- A large-scale genomic investigation of susceptibility to infection and its association with mental disorders in the Danish population (2019) (38)
- Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci (2004) (38)
- Tractor uses local ancestry to enable inclusion of admixed individuals into GWAS and boost power (2020) (37)
- Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome. (2007) (37)
- High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people. (2006) (37)
- Two Quantitative Trait Loci for Prepulse Inhibition of Startle Identified on Mouse Chromosome 16 Using Chromosome Substitution Strains (2005) (37)
- Small-molecule inhibitors directly target CARD9 and mimic its protective variant in inflammatory bowel disease (2017) (36)
- Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants (2020) (36)
- Allele-Specific Methylation Occurs at Genetic Variants Associated with Complex Disease (2014) (35)
- Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS. (2009) (35)
- Glycobiology and schizophrenia: a biological hypothesis emerging from genomic research (2020) (35)
- Genetic resistance to diet-induced obesity in chromosome substitution strains of mice (2010) (34)
- Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations (2020) (34)
- Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population. (2011) (34)
- Identification of pathogenic variant enriched regions across genes and gene families (2019) (34)
- Genetic modifiers of hypertension in soluble guanylate cyclase α1-deficient mice. (2012) (34)
- What have we learned from six years of GWAS in autoimmune diseases, and what is next? (2012) (34)
- Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy (2019) (33)
- High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA (2016) (33)
- Investigating Shared Genetic Basis Across Tourette Syndrome and Comorbid Neurodevelopmental Disorders Along the Impulsivity-Compulsivity Spectrum (2021) (33)
- Multiple genetic loci modify susceptibility to plasmacytoma-related morbidity in Eμ-v-abl transgenic mice (2002) (33)
- Characterization of candidate genes in inflammatory bowel disease-associated risk loci. (2016) (33)
- Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19 (2006) (32)
- Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies (2018) (32)
- Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders (2019) (31)
- Multigenic control of tuberculosis resistance: analysis of a QTL on mouse chromosome 7 and its synergism with sst1 (2009) (31)
- Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease (2020) (31)
- Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes (2022) (31)
- Hidden ‘risk’ in polygenic scores: clinical use today could exacerbate health disparities (2018) (31)
- Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion (2019) (31)
- Ozone-induced acute lung injury: genetic analysis of F(2) mice generated from A/J and C57BL/6J strains. (1999) (31)
- Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach (2009) (31)
- A polygenic resilience score moderates the genetic risk for schizophrenia (2019) (31)
- TMEM258 Is a Component of the Oligosaccharyltransferase Complex Controlling ER Stress and Intestinal Inflammation. (2016) (31)
- Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides (2017) (31)
- Genetic associations of protein-coding variants in human disease (2021) (30)
- Meta-analysis of genome-wide association studies. (2010) (30)
- A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis. (2016) (30)
- Altered Intestinal ACE2 Levels Are Associated With Inflammation, Severe Disease, and Response to Anti-Cytokine Therapy in Inflammatory Bowel Disease (2020) (30)
- The human genetic epidemiology of COVID-19 (2022) (30)
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. (2020) (30)
- Association mapping of inflammatory bowel disease loci to single variant resolution (2015) (29)
- A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine (2020) (29)
- Replicating genotype – phenotype associations What constitutes replication of a genotype – phenotype association , and how best can it be achieved ? (2007) (29)
- ASD and ADHD have a similar burden of rare protein-truncating variants (2018) (29)
- Geographic variation and bias in polygenic scores of complex diseases and traits in Finland (2018) (28)
- Principles and methods of in-silico prioritization of non-coding regulatory variants (2017) (27)
- A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. (2014) (27)
- Haplotype structure of TNFRSF5-TNFSF5 (CD40–CD40L) and association analysis in systemic lupus erythematosus (2005) (27)
- The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation (2020) (27)
- Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland (2019) (27)
- Correction: A comprehensive genetic map of the mouse genome (Nature (1996) 380 (149-152)) (1996) (27)
- A first update on mapping the human genetic architecture of COVID-19 (2022) (27)
- GENOME-WIDE ANALYSES OF ADHD IDENTIFY 27 RISK LOCI, REFINE THE GENETIC ARCHITECTURE AND IMPLICATE SEVERAL COGNITIVE DOMAINS (2022) (26)
- Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders (2020) (26)
- Heart development in fibronectin-null mice is governed by a genetic modifier on chromosome four (2007) (26)
- GENOME-WIDE ANALYSES OF ADHD IDENTIFY 27 RISK LOCI, REFINE THE GENETIC ARCHITECTURE AND IMPLICATE SEVERAL COGNITIVE DOMAINS (2022) (26)
- A survey of allelic imbalance in F1 mice. (2008) (26)
- Insights from complex trait fine-mapping across diverse populations (2021) (26)
- Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine (2016) (25)
- Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2017) (25)
- Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders (2017) (25)
- Reduced expression of COVID-19 host receptor, ACE2 is associated with small bowel inflammation, more severe disease, and response to anti-TNF therapy in Crohn’s disease (2020) (25)
- Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae (2009) (25)
- Population histories of the United States revealed through fine-scale migration and haplotype analysis (2019) (25)
- Complement genes contribute sex-biased vulnerability in diverse disorders (2020) (25)
- Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing (2017) (24)
- Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism (2021) (24)
- A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis. (2016) (23)
- Haplotypes of common SNPs can explain missing heritability of complex diseases (2015) (23)
- Transcript expression-aware annotation improves rare variant discovery and interpretation (2019) (23)
- Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache (2020) (23)
- Common and rare variant prediction and penetrance of IBD in a large, multi-ethnic, health system-based biobank cohort. (2020) (23)
- Protective Low-Frequency Variants for Preeclampsia in the Fms Related Tyrosine Kinase 1 Gene in the Finnish Population (2017) (23)
- Largest genome-wide association study for PTSD identifies genetic risk loci in European and African ancestries and implicates novel biological pathways (2018) (22)
- Haplotype structures and large-scale association testing of the 5 ' AMP-activated protein kinase genes PRK4A2, PRKAB1, and PRK4B1 with type 2 diabetes (2006) (22)
- Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (22)
- A missense variant in SLC39A8 confers risk for Crohn’s disease by disrupting manganese homeostasis and intestinal barrier integrity (2020) (22)
- FinnGen provides genetic insights from a well-phenotyped isolated population (2023) (22)
- Regulatory variants explain much more heritability than coding variants across 11 common diseases (2014) (22)
- Genome-wide association study identifies 30 loci associated with bipolar disorder (2019) (22)
- Rare deleterious mutations of the gene EFR3A in autism spectrum disorders (2014) (21)
- Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma (2019) (21)
- Response to ‘Predicting the diagnosis of autism spectrum disorder using gene pathway analysis' (2013) (21)
- Evaluating potential drug targets through human loss-of-function genetic variation (2019) (21)
- The female protective effect against autism spectrum disorder (2021) (21)
- Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort (2018) (21)
- A global atlas of genetic associations of 220 deep phenotypes (2020) (21)
- New Approaches to Gene Hunting in IBD (2004) (20)
- A framework for the detection of de novo mutations in family-based sequencing data (2016) (20)
- The IBD1 locus for susceptibility to Crohn's disease has a greater impact in Ashkenazi Jews with early onset disease (2001) (20)
- Disentangling polygenic associations between attention-deficit/hyperactivity disorder, educational attainment, literacy and language (2019) (20)
- A Meta-Analysis of Genome-Wide Association Scans Identifies IL 18 RAP , PTPN 2 , TAGAP , and PUS 10 As Shared Risk Loci for Crohn ’ s Disease and Celiac Disease (2011) (19)
- Estimating the Human Gene Count (2002) (19)
- Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers (2011) (19)
- ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease (2021) (19)
- Rewiring of the cellular and inter-cellular landscape of the human colon during ulcerative colitis (2018) (19)
- The importance of being independent: sib pair analysis in diabetes (1996) (19)
- Whole exome sequencing analyses reveal gene–microbiota interactions in the context of IBD (2020) (19)
- Molecular genetic overlap between posttraumatic stress disorder and sleep phenotypes. (2019) (18)
- Ascertainment Through Family History of Disease Often Decreases the Power of Family-based Association Studies (2007) (18)
- Splicing UNIX into a Genome Mapping Laboratory (1994) (18)
- Subtle stratification confounds estimates of heritability from rare variants (2016) (18)
- Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†. (2016) (18)
- The value of gene-based selection of tag SNPs in genome-wide association studies (2006) (17)
- Meta-analysis fine-mapping is often miscalibrated at single-variant resolution (2022) (17)
- Applicability of the mutation-selection balance model to population genetics of heterozygous protein-truncating variants in humans (2018) (17)
- Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder (2013) (17)
- The Krüppel-Like Factor 11 (KLF11) Q62R Polymorphism Is Not Associated With Type 2 Diabetes in 8,676 People (2006) (17)
- Centenarians and the genetics of longevity. (2000) (17)
- Polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers (2019) (17)
- Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer (2010) (17)
- A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies. (2016) (17)
- Enhanced epigenetic profiling of classical human monocytes reveals a specific signature of healthy aging in the DNA methylome (2020) (17)
- Erratum: Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia (2016) (16)
- BASIC-ALIMENTARY TRACT Genetic Variation in Myosin IXB Is Associated With Ulcerative Colitis (2006) (16)
- Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families (2017) (16)
- Haplotype analysis of tumour necrosis factor receptor genes in 1p36: no evidence for association with systemic lupus erythematosus (2006) (16)
- Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2011) (15)
- The rate of false polymorphisms introduced when imputing genotypes from global imputation panels (2016) (15)
- Genome-wide Analysis of Immune System Genes by Expressed Sequence Tag Profiling (2013) (15)
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- Androgen-sensitive hypertension associated with soluble guanylate cyclase alpha1 deficiency is mediated by 20-HETE (2015) (14)
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- A schizophrenia risk locus alters brain metal transport and plasma glycosylation (2019) (13)
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- Analysis across Taiwan Biobank, Biobank Japan and UK Biobank identifies hundreds of novel loci for 36 quantitative traits (2021) (12)
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- Variant TREM 2 as Risk Factor for Alz hei mer ’ s Disease (2012) (11)
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- Reply to "Statistical concerns about the GSEA procedure" (2004) (11)
- Genome-wide association study identifies five novel susceptibility loci for Crohn ' s disease and implicates a role for autophagy in disease pathogenesis (2009) (11)
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- Erratum: Genome-wide association identifies multiple ulcerative colitis susceptibility loci (2011) (6)
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- Publisher Correction: Clinical use of current polygenic risk scores may exacerbate health disparities (2021) (5)
- The Role of Ultra-Rare Coding Variants In ADHD (2019) (5)
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- Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population (2019) (5)
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- 56 INITIAL RESULTS FROM THE META-ANALYSIS OF THE WHOLE-EXOMES OF OVER 20,000 SCHIZOPHRENIA CASES AND 45,000 CONTROLS (2019) (5)
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- Reply to Tenesa et al ‘Association of DLG5 and inflammatory bowel disease across populations’ (2006) (3)
- A platform for case-control matching enables association studies without genotype sharing (2018) (3)
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- Comparative genetic architectures of schizophrenia in East Asian and European populations (2019) (2)
- 54EXOME SEQUENCING OF 23,851 CASES IMPLICATES NOVEL RISK GENES AND PROVIDES INSIGHTS INTO THE GENETIC ARCHITECTURE OF SCHIZOPHRENIA (2019) (2)
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- Clinical use of current polygenic risk scores may exacerbate health disparities (2019) (2)
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- Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis (2016) (2)
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- Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population (2023) (1)
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- Transcript expression-aware annotation improves rare variant interpretation (2020) (1)
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- 10 META-ANALYSIS OF 9246 NEURODEVELOPMENTAL DISORDER PROBANDS IDENTIFIES 8 NOVEL GENES AND FINDS DE NOVO MUTATIONS IN PRIOR ASSOCIATED AUTISM SPECTRUM DISORDER GENES ARE MORE OFTEN OBSERVED IN PROBANDS WITHOUT ASD (2019) (1)
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- 9 LIMITED CONTRIBUTION OF RARE, NONCODING VARIATION TO AUTISM SPECTRUM DISORDER FROM SEQUENCING OF 2,076 GENOMES IN QUARTET FAMILIES (2019) (1)
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- Target Gene Notebook: Connecting genetics and drug discovery (2019) (1)
- Androgen-sensitive hypertension associated with soluble guanylate cyclase alpha1 deficiency is mediated by 20-HETE (2015) (1)
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- LRRK2 is an Interferon-gamma Target Involved in Immune Responses (2010) (1)
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- Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure (2023) (1)
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- What can studies on Turner syndrome tell us about the role of X-linked genes in social cognition? (2004) (1)
- Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (1)
- A Complex, Polygenic Architecture for Lightened Skin Pigmentation in the Southern African KhoeSan (2017) (1)
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- Polygenic risk for schizophrenia is associated with social cognition across development (2015) (0)
- University of Groningen TMEM 258 Is a Component of the Oligosaccharyltransferase Complex Controlling ER Stress and Intestinal Inflammation (2018) (0)
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- Author Correction: Transcript expression-aware annotation improves rare variant interpretation (2021) (0)
- Poster session III * Friday 10 December 2010, 08:30-12:30 (2010) (0)
- Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration (2016) (0)
- OR.102. The CD58 Pathway is Implicated in MS Susceptibility (2008) (0)
- Fine-mapping of genetic loci driving spontaneous clearance of hepatitis C virus infection (2017) (0)
- Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (0)
- Using protein-protein interaction analysis to understand genetics of heritable ocular disease (2016) (0)
- Supplementary Information for Extremely low-coverage sequencing and imputation increases power for genome-wide association studies (2012) (0)
- Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders (2019) (0)
- Assessment of Genetic Effects on Progression to Intermediate Drusen, Large Drusen and Advanced Stages of Age-related Macular Degeneration (2011) (0)
- Assessment of Genetic Effects on Progression to Intermediate Drusen, Large Drusen and Advanced Stages of Age-related Macular Degeneration (2011) (0)
- Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation (vol 25, pg 1859, 2018) (2020) (0)
- Supplementary Information for : Fetal hemoglobin persistence and neurodevelopmental alterations due to BCL 11 A deletions (2015) (0)
- Complex Disease Genes and Their Discovery (2013) (0)
- University of Groningen Genetic Coding Variant in GPR65 Alters Lysosomal pH and Links Lysosomal Dysfunction with Colitis Risk Lassen, (2019) (0)
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- Identification and Characterization of Variant Intolerant Sites across Human Protein 3-Dimensional Structures (2018) (0)
- A method to exploit the structure of genetic ancestry space to enhance case-control studies (2016) (0)
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- 378 - Genomic Correlates of Reduced Neutrophil Granulocytemacrophage Colony Stimulating Factor Signaling in Stricturing Pediatric Crohn Disease (2018) (0)
- Considerations for association analysis of multiple correlated traits and samples (2007) (0)
- The mutational constraint spectrum quantified from variation in 141,456 humans (2020) (0)
- A genome-wide screen of Ashkenazi jews with Crohn's disease: Evidence for a unique susceptibility locus on chromosome 14 (2001) (0)
- Rare loss of function variants in candidate genes and risk of colorectal cancer (2018) (0)
- Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (2019) (0)
- Testing for an unusual distribution of rare variation (2010) (0)
- OP01 In-depth characterisation of host genetics and gut microbiome unravels novel host–microbiome interactions in inflammatory bowel disease (2019) (0)
- A framework for the detection of de novo mutations in family-based sequencing data (2016) (0)
- Association of MARC1 A165T with metabolic traits. (2020) (0)
- 1 Analysis of Shared Heritability in Common Disorders of the Brain 1 (2017) (0)
- Recessive gene disruptions in autism spectrum disorder (2019) (0)
- Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2020) (0)
- Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan (2020) (0)
- Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation (2023) (0)
- A structural variation reference for medical and population genetics (2020) (0)
- Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum (2017) (0)
- Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution (2023) (0)
- Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (0)
- Author Correction: Transcript expression-aware annotation improves rare variant interpretation (2021) (0)
- Junction-skipping regulation in complex disease (2019) (0)
- Su1028 – Whole-Genome Sequencing of African Americans Identifies Novel Rare Variants Associated with Inflammatory Bowel Disease (2019) (0)
- Developmental Changes in Genetic Relationships Between Traits and Disease: Analyses of Genetic Overlaps Between Social-communication Difficulties, Autism Spectrum Disorders and Schizophrenia (2015) (0)
- Phenome-wide association studies across large population cohorts support drug target validation (2018) (0)
- GENETIC ASSOCIATION OF COMPLEMENT RECEPTORS TO PREECLAMPSIA REVEALED BY TARGETED EXOMIC SEQUENCING (2017) (0)
- University of Dundee Association of Liver Injury From Specific Drugs , or Groups of Drugs , With Polymorphisms in HLA and Other Genes in a Genome-wide Association Study (0)
- Abstract 3228: Using paired tissue and serum samples to characterize human lung cancer metabolomics with 1H HRMAS MRS. (2013) (0)
- A biological pathway approach to disease association studies: Toll receptor pathway alleles and susceptibility to inflammatory bowel disease (2006) (0)
- Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer (2014) (0)
- Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease (2020) (0)
- Effect of diagnostic misclassification on the ability to detect linkage in inflammatory bowel disease (IBD) (2000) (0)
- Evaluating drug targets through human loss-of-function genetic variation (2020) (0)
- A Genome-wide Screen for Genetic Variants Affecting the Expression of Immunologically Relevant Cell Surface Markers (2007) (0)
- Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (0)
- Low Emission Strategies (2013) (0)
- Irish society for rheumatology (1994) (0)
- Pamela Sklar (1959–2017) (2018) (0)
- Pamela Sklar (1959-2017). (2018) (0)
- Regulators tackle UAV issues (2010) (0)
- CLINICAL ASSESSMENT OF DATA SHEET REVISIONS (1994) (0)
- 149 – In-Depth Characterization of Host-Genetics and Gut Microbiome Unravels Novel Host-Microbiome Interactions in Inflammatory Bowel Disease (2019) (0)
- Obesity and Diabetes (2005) (0)
- Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study (2018) (0)
- 32MOST EXOME SEQUENCING IDENTIFIED AUTISM SPECTRUM DISORDER GENES CONFER GREATER RISK TO INTELLECTUAL DISABILITY / DEVELOPMENTAL DELAY THAN ASD (2019) (0)
- 13. The Role of Common and Rare Variants in ADHD Risk and Genetic Overlap With Other Phenotypes (2019) (0)
- Evaluating drug targets through human loss-of-function genetic variation (2020) (0)
- GENOME-WIDE ANALYSIS IDENTIFIES SORCS3 AS A NOVEL SUSCEPTIBILITY LOCUS FOR PANIC DISORDER IN THE FINNGEN STUDY (2022) (0)
- Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes (2022) (0)
- Differences in the Commonly used Genotype Imputation Algorithms and Their Imputation Accuracy Estimates (2018) (0)
- Understanding Complex Trait Susceptibilities and Ethnical Diversity in a Sample of 4,145 Russians Through Analysis of Clinical and Genetic Data (2023) (0)
- 25. THE ROLE OF DELETERIOUS RARE VARIANTS IN ADHD RISK (2021) (0)
- 53. LOCAL ANCESTRY ALLOWS FOR IMPROVED GENOMIC PREDICTION IN UNDERREPRESENTED AND ADMIXED POPULATIONS (2021) (0)
- Fine-Scale Genetic Structure in Finland Kerminen , Sini 2017-10 (0)
- A genome-wide association study for shared risk across major psychiatric disorders in a nation- wide birth cohort implicates fetal neurodevelopment as a key mediator Authors (2017) (0)
- 1 USING GENETIC DIVERSITY FROM EAST ASIA TO IMPROVE THE BIOLOGICAL INSIGHT INTO SCHIZOPHRENIA (2019) (0)
- Functional Interpretation of Single Amino Acid Substitutions in 1,330 Disease-Associated Genes (2019) (0)
- 85. SNP-Based Dissection of PTSD from Large-Scale Genome-Wide Association Studies (GWAS) across Military and Civilian Cohorts (2017) (0)
- Nationwide health, socio-economic and genetic predictors of COVID-19 vaccination status in Finland. (2023) (0)
- T49. SOCIODEMOGRAPHIC AND LIFESTYLE FACTORS ASSOCIATED WITH GOOD PERFORMANCE IN PAIRED ASSOCIATES LEARNING TEST IN PATIENTS WITH SCHIZOPHRENIA (2020) (0)
- Inflammatory and infectious upper respiratory diseases associate with 59 genomic loci that link to type 2 inflammation genes (2021) (0)
- Abstract 796: ERCC3 R109X is a moderate risk breast cancer risk variant in Ashkenazi Jews (2016) (0)
- Large-Scale Genetic Characterization of PTSD Across Ancestry, Gender and Trauma-Type (2019) (0)
- SU112 EVALUATION OF THE IMPACT OF ULTRA-RARE VARIANTS IN CANNABIS USE DISORDER USING EXOME SEQUENCING (2019) (0)
- 45 EXOME SEQUENCING OF 25,000 SCHIZOPHRENIA CASES IMPLICATES 10 RISK GENES, AND PROVIDES INSIGHT INTO SHARED AND DISTINCT GENETIC RISK AND BIOLOGY WITH OTHER NEURODEVELOPMENTAL DISORDERS (2019) (0)
- Gene Discovery in Admixed Cohorts With Tractor (2021) (0)
- Using paired tissue and serum samples to characterize human lung cancer metabolomics with ex vivo 1 H HRMAS (2010) (0)
- Bootstrat : Population Informed Bootstrapping for Rare Variant 1 Tests 2 3 (2016) (0)
- ANALYSIS OF RARE CODING AND COMMON VARIANTS IN AUTISM AND COMORBID SUBGROUPS (2022) (0)
- 80. SINGLE-CELL RNA-SEQUENCING OF HUMAN BRAIN REGIONS IDENTIFIES CELL TYPES AND STATES RELEVANT TO DISEASE (2021) (0)
- Secretoglobin family 1D member 2 (SCGB1D2) protein inhibits growth of Borrelia burgdorferi and affects susceptibility to Lyme disease (2022) (0)
- REPLACING GWAS ARRAYS: CAPTURING GENOMIC DIVERSITY WITH A NOVEL WHOLE-EXOME PLUS LOW-PASS WHOLE GENOME PRODUCT (2022) (0)
- Genes by Expressed Sequence Tag Profiling Genome-wide Analysis of Immune System (2013) (0)
- FINDINGS FROM PGC PTSD GENOME-WIDE ASSOCIATION STUDY OF OVER 200,000 SAMPLES (2019) (0)
- Linkage of psoriasis to the MHC and evidence for additional loci in a large cohort (International Psoriasis Genetics Consortium). (2002) (0)
- Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2017) (0)
- Cohort profile: SUPER-Finland – the Finnish study for hereditary mechanisms of psychotic disorders (2023) (0)
- A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development (2022) (0)
- Acknowledgement to referees 2003 (2004) (0)
- The Use of Protein-protein Interaction in Loci Associated to Crohn's and Rheumatoid Arthritis Reveals Evidence of Risk Spread Across Functional Networks (2010) (0)
- GWAS meta-analyses clarify genetics of cervical phenotypes and inform risk stratification for cervical cancer. (2023) (0)
- M79 THE INTERPLAY BETWEEN SCHIZOPHRENIA AND INTELLIGENCE POLYGENIC RISK SCORES CONTRIBUTES TO COMMUNITY FUNCTIONING IN PEOPLE WITH PSYCHOTIC DISORDER (2019) (0)
- 27 CLINICAL AND GENOMIC CORRELATES OF NEUTROPHIL GRANULOCYTE-MACROPHAGE COLONY STIMULATING FACTOR SIGNALING IN PEDIATRIC CROHN DISEASE (2018) (0)
- PGC3 AIM 6 - Large Scale Wgs of Multiply Affected Pedigrees (2017) (0)
- Abstract 15784: Increased 20-HETE Signaling Contributes to Gender- and Mouse Strain-Specific Hypertension in the Setting of Impaired NO-sGC Signaling (2014) (0)
- 68THE ROLE OF DELETERIOUS ULTRA-RARE VARIANTS IN ADHD RISK (2019) (0)
- Patterns of genetic variation in humans and mice. (2005) (0)
- Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata (2023) (0)
- 31DISCOVERY AND CHARACTERIZATION OF 102 GENES ASSOCIATED WITH AUTISM FROM EXOME SEQUENCING OF 37,269 INDIVIDUALS (2019) (0)
- 56. GENOTYPE-PHENOTYPE ANALYSES IN 10,000 INDIVIDUALS WITH PSYCHOSIS HIGHLIGHTS COMPLEX ROLE OF ULTRA-RARE CODING VARIANTS AND COMMON POLYGENIC RISK IN PRESENTATION AND ETIOLOGY (2021) (0)
- LAVAA: a lightweight association viewer across ailments (2023) (0)
- S0033291718002039jra 1166..1173 (2019) (0)
- THE ASSOCIATION OF LOBULAR BREAST CANCER WITH GERMLINE MUTATIONS OF CDH1 (2008) (0)
- Elevated polygenic burden for autism is associated with differential DNA methylation at birth (2018) (0)
- Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations (2023) (0)
- BEYOND LUMPING AND SPLITTING: LEVERAGING GRANULARITY IN LARGE SCALE CONSORTIA DATA TO IMPROVE SIGNAL IN PTSD (2019) (0)
- 2. ENRICHMENT OF RARE, DAMAGING VARIANTS IN SCHIZOPHRENIA-RELATED GENES IN INTELLECTUAL DISABILITY PATIENTS WITH PSYCHOTIC DISORDERS (2022) (0)
- Author Correction: A structural variation reference for medical and population genetics (2021) (0)
- Saturday, 5/20, Trianon Ballroom, 1:00 pm–3:00 pmTheme I: Blood Pressure and Volume Regulation by the KidneyHYPERTENSION ASSOCIATED RENAL FAILURE IN THE FAWN-HOODED RAT IS THE RESULT OF A GENETIC PREDISPOSITION (1995) (0)
- Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains (2023) (0)
- Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains (2023) (0)
- University of Groningen A Meta-Analysis of Genome-Wide Association Scans Identifies IL18RAP, PTPN2, TAGAP, and PUS10 As Shared Risk Loci for Crohn's Disease and Celiac Disease Festen, (2011) (0)
- Haplotype Block Detection Using Cira Pattern Discovery (2003) (0)
- Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease (2022) (0)
- CNV Association with Neurodevelopmental Phenotypes in Finnish Population Cohort (2019) (0)
- P819 Whole-exome sequencing in early-onset primary sclerosing cholangitis: first results of the WHELP study (2019) (0)
- The Utility of Genetics in Classifying Ulcerative Colitis and Crohn's Disease Patients (2011) (0)
- Su1555: WHOLE GENOME SEQUENCING OF A DIVERSE HISPANIC IBD POPULATION IN THE UNITED STATES REVEALS DIFFERENCES IN PREVIOUSLY IDENTIFIED RISK ALLELES (2022) (0)
- Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy (2019) (0)
- Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2020) (0)
- Genetic predictors of lifelong medication-use patterns in cardiometabolic diseases (2023) (0)
- The effect of LRRK2 loss-of-function variants in humans (2020) (0)
- Common Variant Burden C ontributes to the Familial Aggregation of Migraine in 1 , 589 Families Highlights (2018) (0)
- Running title: Stitziel et al., Exome Sequencing in Monogenic Dyslipidemias (2015) (0)
- An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder (2018) (0)
- IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes (2018) (0)
- A High Density Association Study of the Extended Major Histocompatibility Locus in Ulcerative Colitis (2007) (0)
- Association between DRD4 7R VNTR and response variability in children with and without ADHD (2006) (0)
- A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness (2020) (0)
- P-175 Pleiotropic Effects of Novel Functional LRRK2 Variation on Crohn's Disease and Parkinson's Disease Risk (2016) (0)
- The role of the CD[subscript 5]8 locus in multiple sclerosis (2009) (0)
- Genetic mapping of a modifier locus affecting blood pressure in soluble guanylate cyclase alpha 1-deficient mice (2011) (0)
- Universitet Immunity and mental illness (2019) (0)
- Supplementary Material 8 (2013) (0)
- A harmonized public resource of deeply sequenced diverse human genomes (2023) (0)
- Molecular genetic overlap between migraine and major depressive disorder (2018) (0)
- Autism Sequencing Consortium (ASC) iPSYCH-BROAD Consortium Broad Institute Center for Common Disease Genomics (Broad-CCDG) (2021) (0)
- Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome (2022) (0)
- Su1802 MOLECULAR PREDICTION IN INFLAMMATORY BOWEL DISEASE (2020) (0)
- Mapping and characterization of structural variation in 17,795 human genomes (2020) (0)
- VKučinskas-2001-2016 (2016) (0)
- 776 IDENTIFYING NOVEL HIGH-IMPACT RARE DISEASE-CAUSING MUTATIONS, GENES AND PATHWAYS IN EXOMES OF ASHKENAZI JEWISH INFLAMMATORY BOWEL DISEASE PATIENT (0)
- Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients (2023) (0)
- Novel associations with age-related macular degeneration: a common variant near CTRB1 and a protective rare variant in PELI3 (2016) (0)
- Linkage disequilibrium at PPARG and other genes assessed with dense sets of SNPs. (2001) (0)
- Human knockouts and phenotypic analysis 1 in a cohort with a high rate of consanguinity 2 3 (2016) (0)
- A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment (2019) (0)
- Genetic susceptibility in a Canadian inflammatory bowel disease (IBD) population (1998) (0)
- Burden of unique and low prevalence somatic mutations correlates with cancer survival (2019) (0)
- Statistical concerns about the GSEA procedure (2004) (0)
- 2018 William Allan Award Introduction: Eric S. Lander. (2019) (0)
- Genotyping of common risk variants is informative in discerning IBD subtype: O-0021. (2008) (0)
- Protein-6 and Coronary Artery Disease in 19 Case-Control Studies Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like (2012) (0)
- AssociationofGeneticVariantsinNUDT15WithThiopurine-Induced Myelosuppression in Patients With Inflammatory Bowel Disease (2019) (0)
- Differential Genetic Susceptibility to Geographic Atrophy and Choroidal Neovascularization in Age-Related Macular Degeneration (2010) (0)
- F.33. Genetic Variants that Control the Expression of MHC Genes Do Not Affect Susceptibility to Multiple Sclerosis (2008) (0)
- Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts (2020) (0)
- Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2021) (0)
- Inferring compound heterozygosity from large-scale exome sequencing data (2023) (0)
- CD48 Deficiency Precipitates Autoimmune Glomerulonephritis in Lupus Prone Mice (2010) (0)
- Genomic analysis of AlphaFold2-predicted structures identifies maps of 3D essential sites in 243 neurodevelopmental disorder-associated proteins (2022) (0)
- Reply to ‘Selective effects of heterozygous protein-truncating variants’ (2018) (0)
- Identification of common genetic risk variants for autism spectrum disorder (2019) (0)
- The effect of LRRK2 loss-of-function variants in humans (2020) (0)
- Author Correction: Evaluating drug targets through human loss-of-function genetic variation (2021) (0)
- Genetic mapping of a modifier locus affecting hypertension in soluble guanylate cyclase α1 deficient mice (2011) (0)
- Discordant genotype calls across technology platforms elucidate variants with systematic errors in next-generation sequencing (2022) (0)
- Su1855 Genetic Burden Analysis Identified Late-Onset Crohn's Disease(CD) As a Distinct Subgroup Characterized by Low Genetic Burden, UC-Like Serological Markers, Mild Clinical Phenotypes and High Proportion of Smoking Cessation at Diagnosis (2016) (0)
- Abstract 13076: Genetic Mapping of a Modifier Locus Affecting Blood Pressure in Soluble Guanylate Cyclase {alpha}1-Deficient Mice. (2011) (0)
- Association Scans Identifies IL 18 RAP , PTPN 2 , TAGAP , and PUS 10 As Shared Risk Loci for Crohn ' s Disease and Celiac Disease (2018) (0)
- O-0021: Genotyping of common risk variants is informative in discerning IBD subtype (2008) (0)
- A genome-wide scan in a canadian inflammatory bowel disease (IBD) population reveals two novel susceptibility loci (2000) (0)
- Amendment history : Erratum ( April 2016 ) A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis (2018) (0)
- Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data (2019) (0)
- 34 A Meta-Analysis of Genome Wide Association Scans Identifies TAGAP and Pus10 as Shared Risk Loci for Crohn's Disease and Celiac Disease (2010) (0)
- NpgRJ_Ng_2007-27 1..6 (2007) (0)
- 763 PREVALENCE AND EFFECT OF GENETIC RISK OF CLOTTING DISORDER IN INFLAMMATORY BOWEL DISEASE (2020) (0)
- Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion (2019) (0)
- University of Groningen Complex host genetics influence the microbiome in inflammatory bowel disease (2017) (0)
- Abstract 18321: Analysis of a Consanguineous Cohort to Identify and Characterize Human Knockouts (2015) (0)
- Identification and Investigation of Mucin 1‐Mediated Kidney Disease (2015) (0)
- Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder (2018) (0)
- Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2020) (0)
- A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine (2020) (0)
- 153. A Novel Framework for Well-Calibrated Analysis of Complex Traits in Admixed Individuals (2019) (0)
- Publisher Correction: Clinical use of current polygenic risk scores may exacerbate health disparities (2021) (0)
- Publisher Correction: SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests (2022) (0)
- Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer (2021) (0)
- Loci On Chromosome 2 Are Linked To Airway Hyperresponsiveness In Outbred Mice (2010) (0)
- Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer (2020) (0)
- An accurate and reproducible discrimination tool for inflammatory bowel disease subtype using genetics, serologies, and smoking status: O-2. (2011) (0)
- Reply to Cipriani et al (2011) (0)
- 248 – Whole-Exome Sequencing in Early-Onset Primary Sclerosing Cholangitis: First Results of the Whelp-Study (2019) (0)
- Epilepsies, IMSGC consortium, IPDGC consortium, METASTROKE and Intracerebral Hemorrhage Studies of the International Stroke Genetics Consortium, Attention-Deficit Hyperactivity Disorder Working Group of the Psychiatric Genomics Consortium, Anorexia Nervosa Working Group of the Psychiatric Genomics C (2016) (0)
- Sa.137. Toll-Like Receptor Pathway Polymorphisms and Association to Inflammatory Bowel Disease (2006) (0)
- A signal of polygenic inheritance from low frequency variants in case-control genome wide association studies elucidates genetic architecture of common diseases (2013) (0)
- Characterization Of Focal And Generalized Epilepsy Polygenic Burden In 630,603 Individuals (2019) (0)
- 42 HAPLOTYPE STRUCTURE AND ASSOCIATION OF COMMON VARIANTS IN THE GENE ENCODING THE ISLET ATP-SENSITIVE POTASSIUM CHANNEL WITH TYPE 2 DIABETES. (2004) (0)
- 064Genetic association of complement receptors to preeclampsia revealed by targeted exomic sequencing (2017) (0)
- Determination of cancer susceptibility in probands with breast and ovarian cancer (2014) (0)
- Candidate Gene Study for Diabetic Retinopathy in CARe (2011) (0)
- Distribution of ancestry in each cohort. (2020) (0)
- Paternal-age-related de novo mutations and risk for five disorders (2019) (0)
- Author Correction: The effect of LRRK2 loss-of-function variants in humans (2021) (0)
- High polygenic risk contributes to an early disease onset in common cardiometabolic diseases and cancers (2019) (0)
- Whole Genome Association Identifies Novel Susceptibility Genes for Crohn's Disease and Implicates a Crucial Role for Autophagy (2007) (0)
- Abstract P6-08-01: Perceptions of breast cancer risk, psychological adjustment and behaviors in adolescent girls at high-risk and population-risk for breast cancer (2012) (0)
- 718 Whole Exome Sequencing in Cohort of Very Early Onset Inflammatory Bowel Disease (2014) (0)
- Reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies (2017) (0)
- 299 A High Density Association Study of the Extended Major Histocompatibility Locus in Ulcerative Colitis and Crohn's Disease (2008) (0)
- 47. GENE DISCOVERY FROM EXOME SEQUENCING IN AUTISM AND COMPARISON TO DEVELOPMENTAL DELAY AND SCHIZOPHRENIA (2021) (0)
- Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (0)
- Poster session IV * Friday 10 December 2010, 14:00-18:00 (2010) (0)
- Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland (2019) (0)
- THU0014 Association between a polymorphism in the fractalkine receptor, CX3CR1, and rheumatoid arthritis (2013) (0)
- Identification of two novel susceptibility loci in a Canadian inflammatory bowel disease population (2000) (0)
- Author Correction: Evaluating drug targets through human loss-of-function genetic variation (2021) (0)
- Integration of whole-exome sequencing and RNA sequencing of intestinal biopsies in inflammatory bowel disease identifies inflammation-dependent effects (2018) (0)
- Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2018) (0)
- Identification of renin signaling as a blood pressure modifying mechanism in soluble guanylate cyclase α1-deficient mice (2012) (0)
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