Stacey Gabriel

Q: What Schools Are Affiliated With Stacey Gabriel

Stacey Gabriel is affiliated with the following schools: University of California, San Diego, Massachusetts Institute of Technology, Carnegie Mellon University, Case Western Reserve University, Johns Hopkins University, University of North Carolina at Chapel Hill, Columbia University, Massachusetts General Hospital, Duke University, Harvard University, Georgia State University, Université de Montréal

Stacey Gabriel's AcademicInfluence.com Rankings

Stacey Gabriel

Biology

#2534

World Rank

#4002

Historical Rank

#1133

USA Rank

Genetics

#329

World Rank

#386

Historical Rank

#147

USA Rank

biology Degrees

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Biology

Stacey Gabriel's Degrees

Bachelors Biology University of California, San Diego

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Why Is Stacey Gabriel Influential?

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According to Wikipedia, Stacey B. Gabriel is an American geneticist and Senior Director of the Genomics Platform at the Broad Institute. With Eric Lander, she is also the co-director of the National Human Genome Research Institute's sequencing center at the Broad Institute. She was named the "hottest researcher" on Thomson Reuters' list of the World's Most Influential Scientific Minds in 2014. She was given this honor because she published twenty-three of the most cited papers of 2013, more than any other single researcher recorded by Thomson Reuters. She topped the same list again in 2015. She is also an ISI Highly Cited Researcher.

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Stacey Gabriel'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

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. (2010) (19260)
A global reference for human genetic variation (2015) (11857)
A framework for variation discovery and genotyping using next-generation DNA sequencing data (2011) (9523)
EGFR Mutations in Lung Cancer: Correlation with Clinical Response to Gefitinib Therapy (2004) (9387)
Comprehensive molecular portraits of human breast tumors (2012) (7791)
Integrated Genomic Analyses of Ovarian Carcinoma (2011) (6411)
Comprehensive molecular characterization of human colon and rectal cancer (2012) (6141)
The Cancer Cell Line Encyclopedia enables predictive modeling of anticancer drug sensitivity (2012) (6062)
Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. (2010) (5816)
Comprehensive genomic characterization defines human glioblastoma genes and core pathways (2008) (5775)
The Structure of Haplotype Blocks in the Human Genome (2002) (5687)
From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline (2013) (4884)
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)
Comprehensive molecular characterization of gastric adenocarcinoma (2014) (4496)
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. (2013) (3821)
Integrated genomic characterization of endometrial carcinoma (2013) (3708)
The Somatic Genomic Landscape of Glioblastoma (2013) (3693)
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples (2013) (3663)
Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids (2010) (3485)
The landscape of somatic copy-number alteration across human cancers (2010) (3297)
Comprehensive genomic characterization of squamous cell lung cancers (2012) (2998)
Age-related clonal hematopoiesis associated with adverse outcomes. (2014) (2967)
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. (2005) (2933)
Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels (2007) (2888)
Comprehensive genomic characterization of head and neck squamous cell carcinomas (2015) (2860)
Mutational heterogeneity in cancer and the search for new cancer-associated genes (2013) (2852)
The Immune Landscape of Cancer (2018) (2766)
Integrating common and rare genetic variation in diverse human populations (2010) (2731)
Mutational heterogeneity in cancer and the search for new cancer genes (2013) (2691)
Somatic mutations affect key pathways in lung adenocarcinoma (2008) (2640)
Discovery and saturation analysis of cancer genes across 21 tumor types (2014) (2530)
Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. (2014) (2344)
The Mutational Landscape of Head and Neck Squamous Cell Carcinoma (2011) (2301)
A Landscape of Driver Mutations in Melanoma (2012) (2244)
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. (2015) (2211)
Genomic Classification of Cutaneous Melanoma (2015) (2143)
Genomic correlates of response to CTLA-4 blockade in metastatic melanoma (2015) (2032)
Integrated Genomic Characterization of Papillary Thyroid Carcinoma (2014) (2007)
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study (2012) (2002)
Detecting recent positive selection in the human genome from haplotype structure (2002) (1838)
Efficiency and power in genetic association studies (2005) (1834)
An immunogenic personal neoantigen vaccine for patients with melanoma (2017) (1820)
Oncogenic Signaling Pathways in The Cancer Genome Atlas (2018) (1646)
Patterns and rates of exonic de novo mutations in autism spectrum disorders (2012) (1645)
Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing (2012) (1620)
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes (2012) (1604)
Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma (2017) (1514)
Rare chromosomal deletions and duplications increase risk of schizophrenia (2008) (1506)
Pan-cancer patterns of somatic copy-number alteration (2013) (1501)
Molecular Profiling Reveals Biologically Discrete Subsets and Pathways of Progression in Diffuse Glioma (2016) (1474)
Solution Hybrid Selection with Ultra-long Oligonucleotides for Massively Parallel Targeted Sequencing (2009) (1393)
Initial genome sequencing and analysis of multiple myeloma (2011) (1385)
Risk alleles for multiple sclerosis identified by a genomewide study. (2007) (1380)
A polygenic burden of rare disruptive mutations in schizophrenia (2014) (1371)
Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer (2012) (1367)
Comprehensive Characterization of Cancer Driver Genes and Mutations (2018) (1360)
Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease (2017) (1358)
Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer (2015) (1332)
Evolution and Impact of Subclonal Mutations in Chronic Lymphocytic Leukemia (2012) (1297)
The genomic complexity of primary human prostate cancer (2010) (1195)
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder (2008) (1189)
Gene expression in fixed tissues and outcome in hepatocellular carcinoma. (2008) (1158)
Sequence analysis of mutations and translocations across breast cancer subtypes (2012) (1133)
Characterizing the cancer genome in lung adenocarcinoma (2007) (1122)
Punctuated Evolution of Prostate Cancer Genomes (2013) (1105)
Advances in understanding cancer genomes through second-generation sequencing (2010) (1104)
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants (2009) (1100)
SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. (2011) (1098)
Integrated Genomic Characterization of Pancreatic Ductal Adenocarcinoma. (2017) (1092)
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes (2019) (1048)
High-throughput oncogene mutation profiling in human cancer (2007) (1041)
SNP Genotyping Using the Sequenom MassARRAY iPLEX Platform (2009) (988)
Integrated detection and population-genetic analysis of SNPs and copy number variation (2008) (980)
Scaling accurate genetic variant discovery to tens of thousands of samples (2017) (947)
The genetic landscape of high-risk neuroblastoma (2013) (938)
Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma. (2016) (931)
The genetic architecture of type 2 diabetes (2016) (927)
Integrative transcriptome analysis reveals common molecular subclasses of human hepatocellular carcinoma. (2009) (900)
A framework for the interpretation of de novo mutation in human disease (2014) (869)
Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants (2012) (849)
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs (2008) (838)
Mutations driving CLL and their evolution in progression and relapse (2015) (830)
Assessing the impact of population stratification on genetic association studies (2004) (806)
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population (2008) (803)
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. (2014) (799)
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program (2019) (785)
The genetic landscape of clinical resistance to RAF inhibition in metastatic melanoma. (2014) (769)
Integrated genomic and molecular characterization of cervical cancer (2017) (762)
Neoantigen vaccine generates intratumoral T cell responses in phase Ib glioblastoma trial (2018) (754)
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)
Genomic Characterization of Brain Metastases Reveals Branched Evolution and Potential Therapeutic Targets. (2015) (727)
Whole-genome association study of bipolar disorder (2008) (714)
Exome and whole genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity (2013) (700)
Melanoma genome sequencing reveals frequent PREX2 mutations (2012) (695)
MEDULLOBLASTOMA EXOME SEQUENCING UNCOVERS SUBTYPE-SPECIFIC SOMATIC MUTATIONS (2012) (686)
Landscape of genomic alterations in cervical carcinomas (2013) (676)
Calibrating a coalescent simulation of human genome sequence variation. (2005) (668)
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. (2016) (630)
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. (2010) (630)
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly (2012) (607)
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis (2007) (592)
Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas (2017) (577)
Family-based association study of 76 candidate genes in bipolar disorder: BDNF is a potential risk locus (2002) (562)
Prognostically relevant gene signatures of high-grade serous ovarian carcinoma. (2012) (509)
Pathogenic Germline Variants in 10,389 Adult Cancers (2018) (501)
A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries (2011) (493)
Alzheimery's disease pathology is associated with early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci (2014) (482)
High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. (2012) (478)
Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients (2018) (471)
Highly evolvable malaria vectors: The genomes of 16 Anopheles mosquitoes (2014) (463)
Somatic ERCC2 mutations correlate with cisplatin sensitivity in muscle-invasive urothelial carcinoma. (2014) (445)
MAP kinase pathway alterations in BRAF-mutant melanoma patients with acquired resistance to combined RAF/MEK inhibition. (2014) (430)
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction (2014) (426)
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico (2013) (419)
Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies (2008) (416)
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes (2014) (405)
Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation (2013) (404)
De Novo Copy Number Variants Identify New Genes and Loci in Isolated, Sporadic Tetralogy of Fallot (2009) (403)
Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci (2014) (402)
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) (397)
Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma (2016) (396)
A structural variation reference for medical and population genetics (2020) (394)
A structural variation reference for medical and population genetics (2020) (394)
Comparison of Fine-Scale Recombination Rates in Humans and Chimpanzees (2005) (375)
RNF43 is frequently mutated in colorectal and endometrial cancers (2014) (371)
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency (2010) (366)
Integrated Genomic Analysis Identifies Clinically Relevant Subtypes of Glioblastoma Characterized by Abnormalities in PDGFRA , IDH 1 , EGFR , and NF 1 Citation Verhaak (2010) (362)
Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma (2016) (353)
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population (2014) (348)
Drug-sensitive FGFR2 mutations in endometrial carcinoma (2008) (346)
Epidermal Growth Factor Receptor Activation in Glioblastoma through Novel Missense Mutations in the Extracellular Domain (2006) (345)
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease (2015) (341)
Whole-exome sequencing and clinical interpretation of formalin-fixed , paraffin-embedded tumor samples to guide precision cancer medicine (2014) (339)
Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcoma (2014) (335)
Genome-Wide Association Study of Coronary Heart Disease and Its Risk Factors in 8,090 African Americans: The NHLBI CARe Project (2011) (325)
Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants: Updated Guidelines from a National Heart, Lung, and Blood Institute Working Group (2010) (324)
Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification. (2004) (318)
New models of collaboration in genome-wide association studies: the Genetic Association Information Network (2007) (313)
Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids. (2004) (310)
Whole-genome and multisector exome sequencing of primary and post-treatment glioblastoma reveals patterns of tumor evolution (2015) (307)
Genetic Mechanisms of Immune Evasion in Colorectal Cancer. (2018) (305)
Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia. (2014) (302)
Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion (2011) (298)
Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition (2013) (291)
Locally disordered methylation forms the basis of intratumor methylome variation in chronic lymphocytic leukemia. (2014) (289)
Inactivating mutations in NPC1L1 and protection from coronary heart disease. (2014) (289)
Integrative analysis of the melanoma transcriptome. (2010) (288)
Single Nucleotide Polymorphisms in Multiple Novel Thrombospondin Genes May Be Associated With Familial Premature Myocardial Infarction (2001) (287)
Paired Exome Analysis of Barrett’s Esophagus and Adenocarcinoma (2015) (281)
Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases (2012) (278)
ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. (2017) (278)
Whole-exome sequencing and clinical interpretation of FFPE tumor samples to guide precision cancer medicine (2013) (275)
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy (2012) (266)
Segregation at three loci explains familial and population risk in Hirschsprung disease (2002) (265)
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery (2016) (265)
Activating mTOR mutations in a patient with an extraordinary response on a phase I trial of everolimus and pazopanib. (2014) (262)
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes (2010) (261)
Exome Sequencing Can Improve Diagnosis and Alter Patient Management (2012) (256)
Recurrent and functional regulatory mutations in breast cancer (2017) (249)
Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders (2013) (248)
Pacific biosciences sequencing technology for genotyping and variation discovery in human data (2012) (246)
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity (2017) (244)
Family-based association study of 76 candidate genes in bipolar disorder: BDNF is a potential risk locus. Brain-derived neutrophic factor. (2002) (242)
Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene. (2010) (236)
A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination. (2015) (235)
Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing (2013) (228)
Genetic and Clonal Dissection of Murine Small Cell Lung Carcinoma Progression by Genome Sequencing (2014) (227)
Structural Alterations Driving Castration-Resistant Prostate Cancer Revealed by Linked-Read Genome Sequencing (2018) (221)
Quality and completeness of SNP databases (2003) (210)
The functional spectrum of low-frequency coding variation (2011) (210)
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome (2012) (209)
Spectrum of somatic mitochondrial mutations in five cancers (2012) (209)
CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration (2014) (208)
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. (2014) (197)
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. (2014) (197)
Proteogenomic Characterization of Endometrial Carcinoma (2020) (194)
Pan-Cancer Analysis of lncRNA Regulation Supports Their Targeting of Cancer Genes in Each Tumor Context (2018) (188)
Whole-genome sequencing reveals activation-induced cytidine deaminase signatures during indolent chronic lymphocytic leukaemia evolution (2015) (185)
Prognostic gene expression signature for patients with hepatitis C-related early-stage cirrhosis. (2013) (185)
Genetic Interleukin 6 Signaling Deficiency Attenuates Cardiovascular Risk in Clonal Hematopoiesis (2019) (183)
Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism (2012) (180)
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals (2019) (176)
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome (2015) (174)
Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation (2018) (171)
Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms (2017) (170)
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. (2012) (166)
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels. (2016) (164)
Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction (2019) (160)
Rare coding variants in ten genes confer substantial risk for schizophrenia (2022) (154)
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (153)
The Genetic Landscape of Diamond-Blackfan Anemia (2018) (151)
Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations (2019) (151)
A functional landscape of resistance to ALK inhibition in lung cancer. (2015) (151)
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes (2014) (150)
Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants (2014) (149)
Multiple rare alleles at LDLR and APOA5 confer risk for early-onset myocardial infarction (2014) (147)
A Quantitative Proteome Map of the Human Body (2019) (143)
Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls (2013) (143)
Candidate Gene Association Resource (CARe): Design, Methods, and Proof of Concept (2010) (143)
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (2014) (140)
The Somatic Genomic Landscape of Glioblastoma (2014) (135)
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease (2017) (135)
Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability (2012) (132)
Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel (2017) (128)
DGAT1 mutation is linked to a congenital diarrheal disorder. (2012) (128)
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes (2013) (128)
Exome Aggregation Consortium (2016) (125)
Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia. (2015) (124)
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. (2012) (120)
Genomic evolution and chemoresistance in germ-cell tumours (2016) (118)
Addendum: The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity (2018) (117)
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction (2015) (109)
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. (2011) (107)
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation (2018) (106)
SF 3 B 1 and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia (2011) (106)
Erratum: Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma (Cell Reports (2016) 15(4) (857–865) (S2211124716303643) (10.1016/j.celrep.2016.03.075)) (2016) (106)
Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease (2016) (103)
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome (2015) (103)
Proteogenomic characterization of pancreatic ductal adenocarcinoma (2021) (101)
Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction (2011) (101)
The Alzheimer's Disease Sequencing Project: Study design and sample selection (2017) (101)
Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus (2015) (98)
Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia (2013) (98)
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder (2012) (97)
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease (2019) (95)
Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia (2020) (94)
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole genome sequencing studies at scale (2020) (93)
Exome Sequencing of African-American Prostate Cancer Reveals Loss-of-Function ERF Mutations. (2017) (91)
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. (2013) (91)
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease (2019) (90)
Transcript expression-aware annotation improves rare variant interpretation (2020) (89)
AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder (2013) (88)
Erratum: Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles (Cell Reports (2017) 18(11) (2780–2794) (S2211124717302140) (10.1016/j.celrep.2017.02.033)) (2017) (88)
The road ahead in genetics and genomics (2020) (88)
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus (2012) (87)
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)
Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (2013) (86)
Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. (2012) (85)
Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation (2017) (82)
Comprehensive Survey of Common Genetic Variation at the Plasminogen Activator Inhibitor-1 Locus and Relations to Circulating Plasminogen Activator Inhibitor-1 Levels (2005) (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)
Common Genetic Variation in Five Thrombosis Genes and Relations to Plasma Hemostatic Protein Level and Cardiovascular Disease Risk (2006) (79)
Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology (2017) (79)
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2019) (78)
Perceptions of School Psychological Services by Education Professionals: Results from a Multi-State Survey Pilot Study (2004) (78)
A proteogenomic portrait of lung squamous cell carcinoma (2021) (77)
A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia (2013) (74)
Mutations in CSPP1 lead to classical Joubert syndrome. (2014) (73)
Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling (2018) (70)
The effect of LRRK2 loss-of-function variants in humans (2020) (69)
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders (2013) (69)
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2017) (68)
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. (2016) (67)
Targeted Exon Sequencing by In‐Solution Hybrid Selection (2010) (66)
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease (2017) (64)
Germline mutations affecting Gα11 in hypoparathyroidism. (2013) (60)
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data (2022) (60)
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease (2018) (59)
Phenotypic extremes in rare variant study designs (2015) (58)
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. (2019) (58)
Pangenomics enables genotyping of known structural variants in 5202 diverse genomes (2021) (57)
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. (2014) (57)
Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing (2016) (55)
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease (2021) (54)
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism (2022) (49)
Erratum: The somatic genomic landscape of glioblastoma (Cell (2013) 155 (462-477)) (2014) (49)
Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women (2020) (49)
Alzheimer ' s disease : early alterations in brain DNA methylation (2015) (48)
Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction (2015) (48)
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (48)
Multi-Ethnic Analysis of Lipid-Associated Loci: The NHLBI CARe Project (2012) (47)
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (2015) (47)
Polymorphisms in signal transducer and activator of transcription 3 and lung function in asthma (2005) (46)
Erratum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (Nature (2013) 493 (216-220) DOI: 10.1038/nature116) (2013) (44)
Exome Sequencing in Suspected Monogenic Dyslipidemias (2015) (44)
A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes (2017) (43)
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk (2017) (43)
Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study (2017) (42)
Social Validity: Perceptions of Check and Connect with Early Literacy Support. (2005) (42)
Association of exome sequences with plasma C-reactive protein levels in >9000 participants. (2015) (40)
Diagnostic Yield of Sequencing Familial Hypercholesterolemia Genes in Patients with Severe Hypercholesterolemia. (2016) (39)
Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease[S] (2010) (36)
Integrated Proteogenomic Characterization of Clear Cell Renal Cell Carcinoma (2020) (36)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms (2016) (35)
Large multiethnic Candidate Gene Study for C-reactive protein levels: identification of a novel association at CD36 in African Americans (2014) (34)
Triggered Palliative Care for Late-Stage Dementia: A Pilot Randomized Trial. (2019) (31)
SNP Genotyping using Sequenom MassARRAY 7K Platform (2004) (29)
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia (2018) (29)
Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab (2014) (28)
Systematic genomic and translational efficiency studies of uveal melanoma (2017) (26)
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2017) (25)
Rare Germline Variants in ATM Are Associated with Chronic Lymphocytic Leukemia (2017) (25)
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism (2021) (24)
PAI‐1 Gene 4G/5G Polymorphism and Risk of Type 2 Diabetes in a Population‐based Sample (2006) (24)
Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease. (2016) (24)
Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance (2012) (24)
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. (2013) (24)
Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation (2019) (23)
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (22)
Narrow-sense heritability estimation of complex traits using identity-by-descent information (2017) (22)
Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkit (2020) (22)
DNA Sequence Variation in ACVR1C Encoding the Activin Receptor-Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes (2018) (21)
Inherited causes of clonal haematopoiesis in 97,691 whole genomes (2020) (21)
A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease (2018) (20)
DNA sequence variants in epithelium-specific ETS-2 and ETS-3 are not associated with asthma. (2002) (20)
Corrigendum: An immunogenic personal neoantigen vaccine for patients with melanoma (2018) (20)
Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome (2018) (19)
Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction (2020) (19)
Paternal inheritance of a female moth ’ s mating preference (19)
Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants (2020) (19)
Combinatorics and next-generation sequencing (2009) (19)
Genome sequencing unveils a regulatory landscape of platelet reactivity (2019) (18)
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19 p 13 (2011) (17)
Identification and Functional Characterization of G 6 PC 2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G 6 PC 2-ABCB 11 Locus (2015) (16)
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features (2018) (16)
Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits (2022) (15)
The Genetic Landscape of Diamond-Blackfan Anemia. (2019) (14)
Technological considerations for genome-guided diagnosis and management of cancer (2016) (14)
A Novel Screening Method to Identify Late-Stage Dementia Patients for Palliative Care Research and Practice. (2017) (14)
High-throughput RNA isoform sequencing using programmable cDNA concatenation (2021) (13)
Human knockouts in a cohort with a high rate of consanguinity (2015) (13)
Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010) (13)
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility (2022) (13)
Molecular and cellular features of CTLA-4 blockade for relapsed myeloid malignancies after transplantation (2021) (13)
Combined tumor and immune signals from genomes or transcriptomes predict outcomes of checkpoint inhibition in melanoma (2021) (12)
Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program (2020) (12)
Gene- and tissue-level interactions in normal gastrointestinal development and Hirschsprung disease (2019) (12)
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program. (2021) (11)
Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease. (2020) (11)
Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease (2020) (11)
ANGPTL 3 De fi ciency and Protection Against Coronary Artery Disease (2017) (10)
Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study (2016) (10)
Candidate Gene Association Resource (CARe)Clinical Perspective (2010) (10)
Genetic Variation: A Laboratory Manual (2007) (9)
Variation in the human genome and the inherited basis of common disease. (2006) (9)
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes (2022) (9)
Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility (2021) (8)
Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project (2016) (7)
Erratum: Corrigendum: High-throughput oncogene mutation profiling in human cancer (2007) (7)
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices (2021) (7)
An APOO Pseudogene on Chromosome 5q Is Associated With Low-Density Lipoprotein Cholesterol Levels (2018) (7)
Erratum: High-throughput oncogene mutation profiling in human cancer (Nature Genetics (2007) 39, (347-351)) (2007) (7)
Whole genome sequence analysis of blood lipid levels in >66,000 individuals (2021) (7)
Comprehensive molecular characterization of colorectal cancer reveals genomic predictors of immune cell infiltrates. (2015) (6)
Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children with asthma. (2019) (6)
Subclonal Driver Mutations Predict Shorter Progression Free Survival in Chronic Lymphocytic Leukemia Following First-Line Chemo(immuno)Therapy: Results from the CLL8 Trial (2014) (6)
Abstract PD3-5: Whole exome sequencing (WES) of HER2+ metastatic breast cancer (MBC) from patients with or without prior trastuzumab (T): A correlative analysis of TBCRC003 (2015) (6)
Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries (2018) (6)
HeterozygousABCG5Gene Deficiency and Risk of Coronary Artery Disease (2020) (5)
Whole-exome sequencing (WES) of HER2+ metastatic breast cancer (MBC) from patients (pts) treated with prior trastuzumab (T): A correlative analysis of TBCRC003. (2014) (5)
Novel Germline Genetic Variants Associated with Familial Chronic Lymphocytic Leukemia (CLL) (2011) (5)
Quantitative Clonal Dynamics Define Mechanisms of CLL Evolution in Response to Combination Chemotherapy (2015) (5)
Effect sizes of causal variants for gene expression and complex traits differ between populations (2021) (5)
The genetic landscape of clinical resistance to RAF inhibition in melanoma. (2013) (4)
Association of somatic ERCC2 mutations with cisplatin sensitivity in muscle-invasive urothelial carcinoma. (2014) (4)
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies (2022) (4)
Novel Putative Driver Gene Mutations in Chronic Lymphocytic Leukemia (CLL): Results from a Combined Analysis of Whole-Exome Sequencing of 262 Primary CLL Samples (2014) (4)
Increased Local Disorder of DNA Methylation Forms the Basis of High Intra-Leukemic Epigenetic Heterogeneity and Enhances CLL Evolution (2013) (4)
Whole exome and whole transcriptome sequencing in melanoma patients to identify mechanisms of resistance to combined RAF/MEK inhibition. (2013) (4)
Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2018) (4)
Information for Action: Developing the Victorian Child and Adolescent Monitoring System (VCAMS) (2008) (3)
Cross-Site Concordance Evaluation of Tumor DNA and RNA Sequencing Platforms for the CIMAC-CIDC Network (2020) (3)
Supplementary Table 10 (2014) (3)
Correction: A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease (2021) (3)
Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals (2022) (3)
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (3)
Abstract 5631: Personal neoantigen-targeting vaccination generates neoepitope-specific T cell responses in tumors of patients with glioblastoma (2018) (3)
Histopathologic and proteogenomic heterogeneity reveals features of clear cell renal cell carcinoma aggressiveness. (2022) (3)
A Dominant Mutation in Hu man RAD 51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination Graphical (2015) (3)
Abstract 3152: CanSeq: prospective clinical whole-exome sequencing of FFPE tumor samples. (2013) (3)
Author Correction: A structural variation reference for medical and population genetics (2021) (3)
Abstract 4868: Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations within a wide spectrum of genetic heterogeneity (2012) (2)
Evaluation of a Training Toolkit to Improve Clinicians' Skills for Dementia Advance Care Planning. (2021) (2)
Correction: Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation (2019) (2)
Addendum: The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity (2012) (2)
Haplotype structure and linkage disequilibrium in 26 worldwide populations. (2002) (2)
Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease (2019) (2)
Gene expression in African Americans and Latinos reveals ancestry-specific patterns of genetic architecture (2021) (2)
Improved Imputation Accuracy of Rare and Low-Frequency Genetic Variants Using Population-Specific High-Coverage Whole-Genome Sequencing Data Based Imputation Reference Panel (2016) (2)
Whole Genome Sequencing Identifies Functional Mutations In the Wnt Pathway In CLL (2010) (2)
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (1)
CS 374 : Algorithms in Biology ( Fall (2006) (1)
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2021) (1)
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (1)
Abstract 1682: Uncovering signals of somatic selection through whole exome and whole genome sequencing of lung adenocarcinoma (2012) (1)
ANGPTL3 De ﬁ ciency and Protection Against Coronary Artery Disease (1)
Abstract 1112: Whole exome and whole genome sequence analysis of lung adenocarcinoma. (2013) (1)
Colon cancer-derived oncogenic EGFR G 724 S mutant (2014) (1)
Pacific biosciences sequencing technology for genotyping and variation discovery in human data (2012) (1)
DISC1 CONDITIONED GENOME-WIDE ASSOCIATION STUDY OF PSYCHOSIS PRONENESS IN A LARGE FINNISH BIRTH COHORT (2010) (1)
Discovery of the First Pathogenic Human EPO Mutation Provides Mechanistic Insight into Cytokine Signaling (2016) (1)
Abstract 105: Integrative analysis of genomic and pharmacologic data from the Cancer Cell Line Encyclopedia (2010) (1)
Large-Scale CLL Genome Analysis Reveals Novel Cancer Genes, Including SF3B1 (2011) (1)
Clonal Hematopoiesis with Somatic Mutations Is a Common, Age-Related Condition Associated with Adverse Outcomes (2014) (1)
Transcript expression-aware annotation improves rare variant interpretation (2020) (1)
716 PROGNOSTIC GENE-EXPRESSION SIGNATURE FOR HEPATITIS C-RELATED EARLY-STAGE LIVER CIRRHOSIS (2012) (1)
Using Dynamic Work Design to Help Cure Cancer ( and other diseases ) (2016) (1)
Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program (2021) (1)
Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery Disease (2022) (1)
Supplementary Material 10 (2014) (1)
Shifts in Intra-Clonal Dynamics Rather Than Novel Mutations Are the Main Engine Driving Tumor Evolution in Relapsed CLL (2011) (1)
Abstract 4017: Dissecting the clonal hierarchy of cancer-driving genomic lesions. (2013) (1)
Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab (2014) (1)
Tumor genomic profiling of FFPE samples by massively parallel sequencing. (2011) (1)
Population genetic tools: application to cancer. (2007) (1)
Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based Mendelian randomization study (2021) (1)
Integrative analysis of the melanoma transcriptome Material Supplemental (2010) (1)
Improving Primary Care Clinicians’ Communication Skills in Dementia-Related Advance Care Planning (GP732) (2020) (1)
Uncovering Cross-Cohort Molecular Features with Multi-Omics Integration Analysis (2022) (0)
1314 RECURRENT MUTATIONS IN SPOP DEFINE A DISTINCT MOLECULAR CLASS OF PROSTATE CANCER (2012) (0)
Speeding the Search for a Cure : Using Dynamic Work Design to Improve Genetic Sequencing (2016) (0)
Abstract 14052: Feasibility of Whole Genome Sequencing for Atrial Fibrillation (2016) (0)
THE P53 PATHWAY AND ANCESTRAL PROGENITORS ARE ASSOCIATED WITH TUMOR RECURRENCE IN GLIOBLASTOMA (2014) (0)
Abstract 3543: Clinical whole genome sequencing at scale (2019) (0)
Structural variation across 138,134 samples in the TOPMed consortium (2023) (0)
Abstract 984: Alteration of the p53 pathway is associated with subclonal tumor progression in glioblastoma (2014) (0)
Gene expression associations with body mass index in the Multi-Ethnic Study of Atherosclerosis (2022) (0)
Novel driver genes and genomic predictors of immune infiltrates in colorectal cancer. (2016) (0)
Large multiethnic Candidate Gene Study for C-reactive protein levels: identification of a novel association at CD36 in African Americans (2014) (0)
Author Correction: A structural variation reference for medical and population genetics (2021) (0)
Author Correction: Evaluating drug targets through human loss-of-function genetic variation (2021) (0)
TRANSPLANTATION Systematic identi ﬁ cation of personal tumor-speci ﬁ c neoantigens in chronic lymphocytic leukemia (2014) (0)
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2020) (0)
Autism Sequencing Consortium (ASC) iPSYCH-BROAD Consortium Broad Institute Center for Common Disease Genomics (Broad-CCDG) (2021) (0)
Accounting for population structure in genetic studies of cystic fibrosis (2022) (0)
Abstract PR4: Integrative analysis of genomic and pharmacologic data from the Cancer Cell Line Encyclopedia (2010) (0)
Distribution of ancestry in each cohort. (2020) (0)
Running title: Stitziel et al., Exome Sequencing in Monogenic Dyslipidemias (2015) (0)
Abstract 2620: The Cancer Cell Line Encyclopedia project: From integrative cancer genomics to personalized cancer therapy (2010) (0)
Whole Genome Sequencing of Indolent CLL Reveals Novel Structural Rearrangements (2014) (0)
Abstract: 115 IDENTIFICATION OF SUSCEPTIBILITY LOCI FOR THE LOW HDLC/CHD TRAIT (2009) (0)
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants (2023) (0)
The gastrointestinal development ‘parts list’: transcript profiling of embryonic gut development in wildtype and Ret-deficient mice (2019) (0)
Sequencing of Human Exomes Evolution and Functional Impact of Rare Coding Variation from Deep (2013) (0)
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (0)
Disease Presenting as Autosomal Recessive Hypercholesterolemia Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage (2013) (0)
Supplementary Table 3 (2015) (0)
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (0)
Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium (2021) (0)
The functional impact of rare variation across the regulatory cascade (2022) (0)
Author Correction: Transcript expression-aware annotation improves rare variant interpretation (2021) (0)
Abstract 3925: Characterization of complex chromosomal aberrations in prostate cancer from whole genome sequencing (2011) (0)
A Functional Landscape o f Resistance to ALK Inhibition in Lung Cancer Graphical Abstract Highlights (2015) (0)
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease (2018) (0)
hi gh-t h roughput Detection of ac tionable Genomic al terations in cl inical t u mor s a mples by t a rgeted, Massively Parallel s e quencing (2012) (0)
A Cryptic Intronic GATA1 Splicing Mutation Provides Insights Into Human Hematopoietic Differentiation (2018) (0)
Abstract 4601: Punctuated evolution of prostate cancer genomes. (2013) (0)
Evaluating drug targets through human loss-of-function genetic variation (2020) (0)
Abstract PL07-01: Molecular profiling of breast cancer in Mexico: Identification of novel therapeutic targets through whole genome sequencing analysis. (2012) (0)
M I T S l o a n S c h o o l o f M a n a g e m e n t Using Dynamic Work Design to Help Cure Cancer ₍ and other diseases (2016) (0)
Abstract 3960: Rapid and efficient large-scale somatic mutation validation approaches for cancer genome sequencing (2012) (0)
Abstract A1-15: Systematic genomic characterization of uveal melanoma (2015) (0)
Human knockouts and phenotypic analysis 1 in a cohort with a high rate of consanguinity 2 3 (2016) (0)
Author Correction: A structural variation reference for medical and population genetics (2021) (0)
Technological considerations for genome-guided diagnosis and management of cancer (2016) (0)
An Imminent Approach for Genome Sequence and Analysis using Map Reduce (2018) (0)
O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes* (2023) (0)
Pull for Knowledge Work (2018) (0)
Abstract LB-122: High-throughput tumor genomic profiling by massively parallel sequencing (2010) (0)
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (0)
Keratoconus transcriptome analysis by RNA-Seq of individual corneas identifies dysregulated cell survival and mesenchymal regulatory programs. (2015) (0)
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia (2018) (0)
Rare loss of function variants in candidate genes and risk of colorectal cancer (2018) (0)
Abstract 16514: Interpretation of Whole Genome Sequences for Risk of Early-Onset Myocardial Infarction (2017) (0)
NpgRJ_Ng_2007-27 1..6 (2007) (0)
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals (2018) (0)
The mutational constraint spectrum quantified from variation in 141,456 humans (2020) (0)
GE-17ALTERATION OF THE p53 PATHWAY AND ANCESTRAL PROGENITORS ARE ASSOCIATED WITH TUMOR RECURRENCE IN GLIOBLASTOMA (2014) (0)
Abstract 3931: Whole genome and whole exome sequencing of head and neck cancer (2011) (0)
Abstract 5056: A glimpse into the somatic mutation landscape of melanoma through exome sequencing of 121 tumor-normal pairs (2012) (0)
The effect of LRRK2 loss-of-function variants in humans (2020) (0)
Association of MARC1 A165T with metabolic traits. (2020) (0)
Supplementary Material (nature09270-s1) (2012) (0)
High-throughput oncogene mutation detection in human cancers by mass spectrometry-based genotyping (2006) (0)
Supplemental Information Locally Disordered Methylation Forms the Basis of Intratumor Methylome Variation in Chronic Lymphocytic Leukemia (2014) (0)
Correction for “ Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes (2014) (0)
Abstract 1084: Comprehensive genomic analysis of murine small cell lung carcinoma uncovers recurrent Pten alterations that drive tumor progression and alter tumor genome evolution. (2013) (0)
Abstract 15887: Clonal Hematopoiesis Links Premature Menopause to Cardiovascular Disease (2020) (0)
Structural variation across 138,134 samples in the TOPMed consortium (2023) (0)
Abstract 6084: The Osteosarcoma and Leiomyosarcoma Count Me In Projects of the Cancer Moonshot funded PE-CGS Network directly engage patient participants in genomics research (2023) (0)
Short title: Musunuru et al; Design of NHLBI CARe (2017) (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)
Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes (2021) (0)
Abstract 18321: Analysis of a Consanguineous Cohort to Identify and Characterize Human Knockouts (2015) (0)
Comprehensivemolecularcharacterization of human colon and rectal cancer (2012) (0)
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2020) (0)
Somatic ERCC2 Mutations Confer Cisplatin Sensitivity in Muscle-Invasive Urothelial Cancer (2014) (0)
Comprehensivegenomiccharacterization of squamous cell lung cancers (2012) (0)
Preview : Published ahead of advance online publication Rare germline variants in ATM are associated with chronic lymphocytic leukemia (2017) (0)
Abstract B130: The intratumoral heterogeneity of glioblastoma suggests a pivotal role for clonal evolution. (2013) (0)
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants Myocardial Infarction Genetics Consortium * (2009) (0)
CORONARY COMPUTED TOMOGRAPHY ANGIOGRAPHY AND WHOLE GENOME SEQUENCING AS AN APPROACH TO DISCOVER THE GENETIC BASIS OF DISEASE IN A FAMILY PRONE TO MYOCARDIAL INFARCTION (2014) (0)
Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2021) (0)
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale (2020) (0)
A structural variation reference for medical and population genetics (2020) (0)
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2020) (0)
A structural variation reference for medical and population genetics (2020) (0)
Whole genome sequence analysis of pulmonary function and COPD in 19,996 multiethnic participants. (2020) (0)
Abstract 1139: Complete characterization of prostate cancer genomes by massively parallel sequencing (2010) (0)
New Genomic Technologies for Whole Genome Genotyping and Directed Re-Sequencing (2006) (0)
hypermutability with distinct patterns of DNA breakage and rearrangement-induced Somatic rearrangements across cancer reveal classes of samples Material Supplemental (2013) (0)
Supplementary Material 8 (2013) (0)

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