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Cell|April 29, 2014
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionEnder Karaca, Stefan Weitzer, Davut Pehlivan, et al.Science Advances|March 12, 2019
The comparative genomics and complex population history of Papio baboonsJeffrey Rogers, Muthuswamy Raveendran, R Alan Harris, et al.Journal of the National Cancer Institute|December 9, 2014
Germline mutations in shelterin complex genes are associated with familial gliomaMatthew N Bainbridge, Georgina N Armstrong, M Monica Gramatges, et al.American Journal of Human Genetics|December 3, 2014
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndromeSeema R Lalani, Jing Zhang, Christian P Schaaf, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 7, 2021
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implicationsDavid R Murdock, Eric Venner, Donna M Muzny, et al.Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.Nature Ecology & Evolution|February 7, 2018
Hemimetabolous genomes reveal molecular basis of termite eusocialityMark C Harrison, Evelien Jongepier, Hugh M Robertson, et al.Nature Genetics|April 21, 2015
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritisLevi B Watkin, Birthe Jessen, Wojciech Wiszniewski, et al.Science (New York, N.Y.)|October 5, 2013
Integrative annotation of variants from 1092 humans: application to cancer genomicsEkta Khurana, Yao Fu, Vincenza Colonna, et al.Medrxiv : the Preprint Server for Health Sciences|November 19, 2025
Population-scale Long-read Sequencing in the All of Us Research ProgramKiran V Garimella, Qiuhui Li, Julie Wertz, et al.Pageof 65