Stacey Gabriel

发表

Martin A. Nowak, Eric S. Lander, Kristian Cibulskis, 2015 .

Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms

Yossi Farjoun, Brian Granger, Wendy Brodeur, 2017, BMC Genomics.

A polygenic burden of rare disruptive mutations in schizophrenia

Eric S. Lander, Patrick F. Sullivan, Jyoti S. Choudhary, 2014, Nature.

Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

Kathryn Roeder, Stephan Ripke, Shannon Gross, 2013, PLoS genetics.

Gene expression in fixed tissues and outcome in hepatocellular carcinoma.

Kenji Ikeda, Derek Y. Chiang, Goro Watanabe, 2008, The New England journal of medicine.

Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants: Updated Guidelines from a National Heart, Lung, and Blood Institute Working Group

George Church, Rick Kittles, Wylie Burke, 2010, Circulation. Cardiovascular genetics.

SNP Genotyping using Sequenom MassARRAY 7K Platform

Liuda Ziaugra, Stacey Gabriel, S. Gabriel, 2004, Current protocols in human genetics.

Integrated Genomic Analysis Identifies Clinically Relevant Subtypes of Glioblastoma Characterized by Abnormalities in PDGFRA , IDH 1 , EGFR , and NF 1 Citation Verhaak

Yuan Qi, Jill P. Mesirov, Li Ding, 2010 .

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

Andres Metspalu, Mark I. McCarthy, Alex P. Reiner, 2014, PLoS genetics.

Polymorphisms in signal transducer and activator of transcription 3 and lung function in asthma

Ross Lazarus, Scott T Weiss, Stephen Lake, 2005, Respiratory research.

Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels.

Gonçalo R. Abecasis, Danish Saleheen, Nilesh J. Samani, 2016, Journal of the American College of Cardiology.

Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction

Harlan M. Krumholz, Ryan L. Collins, Stephen S. Rich, 2019, Circulation.

Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction

Eric Banks, Sekar Kathiresan, Leif Groop, 2011, Nature Genetics.

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Tariq Ahmad, Patrick F. Sullivan, Andres Metspalu, 2020, Nature Communications.

Abstract 105: Integrative analysis of genomic and pharmacologic data from the Cancer Cell Line Encyclopedia

Dmitriy Sonkin, Andrew I. Su, Todd R. Golub, 2010 .

Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study

Carrie Cibulskis, Nikhil Wagle, Steven Joffe, 2017, Genetics in Medicine.

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder

Kristian Cibulskis, Carrie Sougnez, Stacey Gabriel, 2012, Human mutation.

Mutations driving CLL and their evolution in progression and relapse

Martin A. Nowak, Eric S. Lander, Kristian Cibulskis, 2015, Nature.

An open resource of structural variation for medical and population genetics

Grace Tiao, Daniel G. MacArthur, Ryan L. Collins, 2019 .

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

Eric S. Lander, Rainer Pepperkok, Sekar Kathiresan, 2015, PLoS genetics.

Whole-exome sequencing and clinical interpretation of FFPE tumor samples to guide precision cancer medicine

Adam Kiezun, Petar Stojanov, Kristian Cibulskis, 2013, Nature Medicine.

The functional spectrum of low-frequency coding variation

Paul Flicek, Kristian Cibulskis, Gabor T Marth, 2011, Genome Biology.

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

Jianwen Cai, Tao Wang, Charles Kooperberg, 2019, PLoS genetics.

Combinatorics and next-generation sequencing

Nick Patterson, Stacey Gabriel, S. Gabriel, 2009, Nature Biotechnology.

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

Stefan Johansson, Jason Flannick, Christopher J O'Donnell, 2013, Nature Genetics.

Multiple rare alleles at LDLR and APOA5 confer risk for early-onset myocardial infarction

David M. Herrington, Adam Kiezun, Peter Donnelly, 2014, Nature.

Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification.

Rameen Beroukhim, Matthew Meyerson, Xiaojun Zhao, 2004, Nucleic acids research.

Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing

Eric S. Lander, Aviv Regev, Irit Gat-Viks, 2013, Nature Genetics.

Scott T. Weiss, Hemant K. Tiwari, Donald W. Bowden, 2019, bioRxiv.

Proteogenomic Characterization of Endometrial Carcinoma

Peter B. McGarvey, Ying Wang, Li Ding, 2020, Cell.

SNP Genotyping Using the Sequenom MassARRAY iPLEX Platform

Liuda Ziaugra, Stacey Gabriel, S. Gabriel, 2009, Current protocols in human genetics.

Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073

Ken Chen, Joshua M. Korn, Afidalina Tumian, 2010 .

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

Thomas Meitinger, Pierre Fontanillas, Stefan Johansson, 2014, Nature Genetics.

A reference panel of 64,976 haplotypes for genotype imputation

Laura J. Scott, He Zhang, Gonçalo Abecasis, 2015, bioRxiv.

Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology

Andrew Carroll, Eric Boerwinkle, Andrew D. Johnson, 2017, Nature Genetics.

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Brian E. Cade, Zachary A. Szpiech, Shannon Kelly, 2019, Nature.

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Robert A Harris, Stephan J Sanders, Matthew W State, 2012, Science.

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Kristian Cibulskis, Christopher J. Miller, Carrie Sougnez, 2012, PloS one.

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))

Steven J. M. Jones, Chris Sander, Li Ding, 2017 .

Inactivating mutations in NPC1L1 and protection from coronary heart disease.

John Spertus, Thomas Meitinger, Joshua C Denny, 2014, The New England journal of medicine.

Erratum: The somatic genomic landscape of glioblastoma (Cell (2013) 155 (462-477))

Chris Sander, David Haussler, Wei Zhang, 2014 .

Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci

Manolis Kellis, Bradley E. Bernstein, Matthew L. Eaton, 2014 .

Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

Nicola L. Beer, Pablo Cingolani, Mark I. McCarthy, 2015, PLoS genetics.

Drug-sensitive FGFR2 mutations in endometrial carcinoma

Kristian Cibulskis, Wendy Winckler, Michael C Zody, 2008, Proceedings of the National Academy of Sciences.

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Xiang-Dong Fu, Frank Baas, Murat Gunel, 2014, Cell.

Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease

Len A. Pennacchio, Aravinda Chakravarti, Stacey Gabriel, 2016, Cell.

Whole-genome and multisector exome sequencing of primary and post-treatment glioblastoma reveals patterns of tumor evolution

Jill S Barnholtz-Sloan, Gad Getz, John N Weinstein, 2015, Genome research.

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

He Zhang, Thomas Meitinger, Raimund Erbel, 2014, The New England journal of medicine.

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Taesung Park, Christian Gieger, Tien Yin Wong, 2017, Scientific Data.

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

John Spertus, Markus Perola, Eric Boerwinkle, 2012, The Lancet.

Alzheimery's disease pathology is associated with early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci

Manolis Kellis, David A Bennett, Towfique Raj, 2014, Nature Neuroscience.

Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation

Gonçalo Abecasis, Dan M Roden, Christopher M Haggerty, 2018, JAMA.

SF 3 B 1 and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia

Eric S. Lander, Petar Stojanov, Kristian Cibulskis, 2011 .

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Tariq Ahmad, Patrick F. Sullivan, Andres Metspalu, 2019, bioRxiv.

Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion

Kristian Cibulskis, Gad Getz, Shuji Ogino, 2011, Nature Genetics.

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Daniel G. MacArthur, Konrad J. Karczewski, Danish Saleheen, 2017, Nature.

De Novo Copy Number Variants Identify New Genes and Loci in Isolated, Sporadic Tetralogy of Fallot

Joshua M. Korn, Philip L De Jager, Steven A McCarroll, 2009, Nature Genetics.