Joel N. Hirschhorn

发表

Benchmarker: an unbiased, association-data-driven strategy to evaluate gene prioritization algorithms

Soumya Raychaudhuri, Tune H. Pers, Rebecca S. Fine, 2018, bioRxiv.

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Keith Marsolo, In-Hee Lee, Bria Morgan, 2019, Genetics in Medicine.

Use of weighted reference panels based on empirical estimates of ancestry for capturing untyped variation

Christopher A. Haiman, Brian E. Henderson, Loic Le Marchand, 2009, Human Genetics.

The landscape of recombination in African Americans

Xiaofeng Zhu, Alex P. Reiner, Jasmin Divers, 2011, Nature.

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.

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

Gonçalo R. Abecasis, Stuart H. Orkin, Ramaiah Nagaraja, 2008, Proceedings of the National Academy of Sciences.

Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies

Mark I. McCarthy, Deborah A. Nickerson, Xiaowu Gai, 2008, PloS one.

Edinburgh Research Explorer Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution

Laura J. Scott, Christian Gieger, Yurii S. Aulchenko, 2022 .

A Meta-Analysis Identifies New Loci Associated with Body Mass index in Individuals of African Ancestry

Xiaofeng Zhu, Olufunmilayo I. Olopade, Alex P. Reiner, 2013, Nature Genetics.

Common Variants Show Predicted Polygenic Effects on Height in the Tails of the Distribution, Except in Extremely Short Individuals

Markus Perola, Kaisa Silander, Michael Boehnke, 2011, PLoS genetics.

Discovery and Refinement Supplementary

Christian Gieger, Cisca Wijmenga, Inês Barroso, 2015 .

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

Olli Simell, Mark I. McCarthy, Karen L. Mohlke, 2012, Nature Genetics.

Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA

Manuel A. R. Ferreira, Jing Hua Zhao, Nicholas G. Martin, 2012, PloS one.

FTO genotype is associated with phenotypic variability of body mass index

Joel Eriksson, Joseph E. Powell, Andres Metspalu, 2012, Nature.

NRXN3 Is a Novel Locus for Waist Circumference: A Genome-Wide Association Study from the CHARGE Consortium

Suzette J. Bielinski, Yurii S. Aulchenko, Jeffrey R. O'Connell, 2009, PLoS genetics.

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution

Laura J. Scott, Christian Gieger, Yurii S. Aulchenko, 2009, PLoS Genetics.

Directional dominance on stature and cognition in diverse human populations

Laura J. Scott, Claude Bouchard, Christian Gieger, 2015, Nature.

Genome-Wide Association Analysis Identifies Variants Associated with Nonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits

Udo Hoffmann, Dushyant V. Sahani, Alan R. Shuldiner, 2011, PLoS genetics.

Genome-Wide Association Study of Coronary Heart Disease and Its Risk Factors in 8,090 African Americans: The NHLBI CARe Project

Donald W. Bowden, Eric Boerwinkle, Christopher A. Haiman, 2011, PLoS genetics.

Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse

Eric S. Lander, Thomas J. Hudson, Mark J. Daly, 2000, Nature Genetics.

A genome-wide association meta-analysis identifies new childhood obesity loci

Inês Barroso, Mark I. McCarthy, Philippe Froguel, 2012, Nature Genetics.

Replicating genotype – phenotype associations What constitutes replication of a genotype – phenotype association , and how best can it be achieved ?

Peter Donnelly, Lon R. Cardon, Ellen M. Wijsman, 2007 .

Choosing Haplotype-Tagging SNPS Based on Unphased Genotype Data Using a Preliminary Sample of Unrelated Subjects with an Example from the Multiethnic Cohort Study

Christopher A. Haiman, Daniel O. Stram, Malcolm C. Pike, 2003, Human Heredity.

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Christian Gieger, Jianxin Shi, Inês Barroso, 2013, Nature Genetics.

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

Eric S. Lander, Andres Metspalu, Mart Kals, 2016, Proceedings of the National Academy of Sciences.

The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

Eric S. Lander, Thomas J. Hudson, Cecilia M. Lindgren, 2000, Nature Genetics.

Distinct variants at LIN28B influence growth in height from birth to adulthood.

Mark I. McCarthy, Clive Osmond, Leena Peltonen, 2010, American journal of human genetics.

Editorial: Genome-wide association studies: Past, present and future

Mark I. McCarthy, Joel N. Hirschhorn, M. McCarthy, 2008 .

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

Xiaofeng Zhu, Vladan Mijatovic, Inês Barroso, 2016, Nature Genetics.

Modeling and E-M Estimation of Haplotype-Specific Relative Risks from Genotype Data for a Case-Control Study of Unrelated Individuals

Daniel O. Stram, David Altshuler, Brian E. Henderson, 2003, Human Heredity.

Fatty liver is associated with dyslipidemia and dysglycemia independent of visceral fat: The Framingham heart study

Udo Hoffmann, Dushyant V. Sahani, Caroline S. Fox, 2010, Hepatology.