Daniel G. MacArthur

发表

Genes and Elite Athletes

Daniel G. MacArthur, Kathryn N. North, 2004 .

The impact of rare variation on gene expression across tissues

Gao Wang, Mary Goldman, Brian Craft, 2016, Nature.

A structural variation reference for medical and population genetics

Tariq Ahmad, Patrick F. Sullivan, Mark I. McCarthy, 2020, Nature.

The ExAC browser: displaying reference data information from over 60 000 exomes

Daniel G. MacArthur, Daniel Birnbaum, Konrad J. Karczewski, 2016, bioRxiv.

A synthetic-diploid benchmark for accurate variant-calling evaluation

Heng Li, Daniel G. MacArthur, Yossi Farjoun, 2017, Nature Methods.

A gene for speed: the ACTN3 R577X polymorphism influences muscle performance

Nan Yang, Daniel G. MacArthur, Kathryn N. North, 2006 .

Resolving the Full Spectrum of Human Genome Variation using Linked-Reads

Deanna M. Church, Nazneen Rahman, Andrew Wei Xu, 2017, bioRxiv.

The effect of α-actinin-3 deficiency on muscle aging

Daniel G. MacArthur, Kathryn N. North, Stephen Chan, 2011, Experimental Gerontology.

The ExAC Browser: Displaying reference data information from over 60,000 exomes

Daniel G. MacArthur, Konrad J. Karczewski, Beryl B. Cummings, 2016 .

Health and population effects of rare gene knockouts in adult humans with related parents

Harry Hemingway, Richard Durbin, Daniel G. MacArthur, 2015 .

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.

Quantifying prion disease penetrance using large population control cohorts

Patrick F. Sullivan, Karen L. Mohlke, M. Arfan Ikram, 2016, Science Translational Medicine.

Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

Gregory Valiant, Paul Valiant, Daniel G. MacArthur, 2015 .

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

Joshua Burns, Daniel G. MacArthur, Khurshid Alam, 2017, npj Genomic Medicine.

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.

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

Kathryn Roeder, Stephan Ripke, Shannon Gross, 2013, Neuron.

MacArthur Protein-Coding Genes A Systematic Survey of Loss-of-Function Variants in Human

Klaudia Walter, Joseph K. Pickrell, Jennifer Harrow, 2012 .

Quantitative analysis of population-scale family trees using millions of relatives

Yaniv Erlich, Melissa Gymrek, Alkes L. Price, 2017, bioRxiv.

A brief history of human disease genetics

Mark I. McCarthy, Heidi L. Rehm, Jay Shendure, 2020, Nature.

Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes

Damian Smedley, William C. Skarnes, Stacey Price, 2013, Cell.

An open resource of structural variation for medical and population genetics

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

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

Mary Goldman, Brian Craft, Jingchun Zhu, 2016, Nature Communications.

Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci

Jean-Claude Tardif, Matthew C. Canver, Daniel G. MacArthur, 2017, Proceedings of the National Academy of Sciences.

Human Y Chromosome Base-Substitution Mutation Rate Measured by Direct Sequencing in a Deep-Rooting Pedigree

Huanming Yang, Daniel G. MacArthur, Quan Long, 2009, Current Biology.

Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies

Marylyn D. Ritchie, Shefali S. Verma, Kelly A. Birdwell, 2015, Genome Medicine.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

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 .

Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues

David A. Knowles, Stephen B. Montgomery, Daniel G. MacArthur, 2014, PLoS genetics.

Health and population effects of rare gene knockouts in adult humans with related parents

Harry Hemingway, Richard Durbin, Daniel G. MacArthur, 2015, Science.

Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases

Andrew B. Nobel, Fred A. Wright, Ivan Rusyn, 2015, Scientific Reports.

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Monte Westerfield, Wendy S. Rubinstein, Gregory M. Cooper, 2017, Cell.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Francesco Muntoni, Daniel G. MacArthur, Konrad J. Karczewski, 2016, Science Translational Medicine.

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

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

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

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

Local genetic effects on gene expression across 44 human tissues

Eleazar Eskin, Andrew B. Nobel, Fred A. Wright, 2016, bioRxiv.