Daniel G. MacArthur
Garvan Institute of Medical Research(AU)Icahn School of Medicine at Mount Sinai(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic Associations and Epidemiology, Genomic variations and chromosomal abnormalities, Muscle Physiology and Disorders, RNA Research and Splicing
Most-Cited Works
- → Analysis of protein-coding genetic variation in 60,706 humans(2016)10,243 cited
- → The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans(2015)5,617 cited
- → The GTEx Consortium atlas of genetic regulatory effects across human tissues(2020)5,469 cited
- → Transcriptome and genome sequencing uncovers functional variation in humans(2013)2,164 cited
- → Scaling accurate genetic variant discovery to tens of thousands of samples(2017)2,070 cited
- → Origins and functional impact of copy number variation in the human genome(2009)2,045 cited
- → The mutational constraint spectrum quantified from variation in 141,456 humans(2019)1,767 cited