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Genetics

D-Index
107
Citations
113793
World Ranking
571
National Ranking
15

Medicine

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108
Citations
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World Ranking
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National Ranking
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Overview

Daniel G. MacArthur is a researcher affiliated with the Broad Institute in the United States. Their scholarly work primarily falls within the field of Biochemistry, Genetics and Molecular Biology, with a focus on Genetics and Molecular Biology as the subfields.

Their research encompasses a range of topics including:

  • Genomics and Rare Diseases
  • Genetic Associations and Epidemiology
  • Genomic variations and chromosomal abnormalities
  • RNA modifications and cancer
  • RNA Research and Splicing
  • Cancer Genomics and Diagnostics
  • RNA and protein synthesis mechanisms

MacArthur has published extensively, with recent notable papers including:

  • The GTEx Consortium atlas of genetic regulatory effects across human tissues, 2020, Science
  • A brief history of human disease genetics, 2020, Nature
  • The impact of sex on gene expression across human tissues, 2020, Science
  • Cell type-specific genetic regulation of gene expression across human tissues, 2020, Science
  • Determinants of telomere length across human tissues, 2020, Science

Their frequent co-authors include Anne O'Donnell-Luria, Heidi L. Rehm, Konrad J. Karczewski, Eleina England, and François Aguet. This indicates collaborative engagement within their research community.

MacArthur's work is regularly published in venues such as:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature
  • UNC Libraries
  • Science
  • The American Journal of Human Genetics

Best Publications

  • A global reference for human genetic variation.

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • Analysis of protein-coding genetic variation in 60,706 humans

    Monkol Lek;Konrad J. Karczewski;Konrad J. Karczewski;Eric V. Minikel;Eric V. Minikel;Kaitlin E. Samocha

  • Table S2: Trans-factors and trinucleotide repeat instability Trans-factor

    Arturo López Castel;John D Cleary;Christopher E Pearson

  • The mutational constraint spectrum quantified from variation in 141,456 humans

    Konrad J. Karczewski;Laurent C. Francioli;Grace Tiao;Beryl B. Cummings

  • The mutational constraint spectrum quantified from variation in 141,456 humans

    Konrad J. Karczewski;em> ..] Laurent C. Francioli;Daniel G. MacArthur

  • The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

    Kristin G. Ardlie;David S. Deluca;Ayellet V. Segrè

  • The GTEx Consortium atlas of genetic regulatory effects across human tissues

    F Aguet;AN Barbeira;R Bonazzola;A Brown

  • Transcriptome and genome sequencing uncovers functional variation in humans

    Tuuli Lappalainen;Michael Sammeth;Marc R. Friedländer;Peter A. C. ‘t Hoen

  • Origins and functional impact of copy number variation in the human genome

    Donald F. Conrad;Dalila Pinto;Richard Redon;Richard Redon;Lars Feuk;Lars Feuk

  • Scaling accurate genetic variant discovery to tens of thousands of samples

    Poplin R;Ruano-Rubio;DePristo Ma;Fennell Tj

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

    Daniel G. MacArthur;Daniel G. MacArthur;Suganthi Balasubramanian;Adam Frankish;Ni Huang

  • Guidelines for investigating causality of sequence variants in human disease

    D G MacArthur;T A Manolio;D P Dimmock;H L Rehm

  • Mapping copy number variation by population-scale genome sequencing

    Ryan E. Mills;Klaudia Walter;Chip Stewart;Robert E. Handsaker

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

    Jialiang Yang;Tao Huang;Francesca Petralia;Quan Long

  • ACTN3 Genotype Is Associated with Human Elite Athletic Performance

    Nan Yang;Daniel G. MacArthur;Daniel G. MacArthur;Jason P. Gulbin;Allan G. Hahn

  • High-throughput discovery of novel developmental phenotypes

    Mary E. Dickinson;Ann M. Flenniken;Xiao Ji;Lydia Teboul

  • A framework for the interpretation of de novo mutation in human disease

    Kaitlin E Samocha;Elise B Robinson;Stephan J Sanders;Christine Stevens

  • The UK10K project identifies rare variants in health and disease

    Klaudia Walter;Josine L. Min;Jie Huang;Lucy Crooks

  • The GTEx Consortium atlas of genetic regulatory effects across human tissues

    François Aguet;Alvaro N Barbeira;Rodrigo Bonazzola;Andrew Brown

  • The Genotype-Tissue Expression (GTEx) project

    John Lonsdale;Jeffrey Thomas;Mike Salvatore;Rebecca Phillips

Frequent Co-Authors

Monkol Lek
Monkol Lek Yale University
Konrad J. Karczewski
Konrad J. Karczewski Harvard University
Kathryn N. North
Kathryn N. North University of Melbourne
Mark J. Daly
Mark J. Daly Massachusetts General Hospital
Jessica Alföldi
Jessica Alföldi Broad Institute
Benjamin M. Neale
Benjamin M. Neale Harvard University
Aarno Palotie
Aarno Palotie University of Helsinki
Volker Straub
Volker Straub Newcastle University

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