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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.
American Journal of Human Genetics|November 11, 2022
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletionsHadia Hijazi, Linda M Reis, Davut Pehlivan, et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals|October 27, 2004
The impact of P-glycoprotein on the disposition of drugs targeted for indications of the central nervous system: evaluation using the MDR1A/1B knockout mouse modelAngela Doran, R Scott Obach, Bill J Smith, et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer|May 4, 2018
New Insights on Diagnostic Reproducibility of Biphasic Mesotheliomas: A Multi-Institutional Evaluation by the International Mesothelioma Panel From the MESOPATH Reference CenterF Galateau Salle, N Le Stang, A G Nicholson, 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.
American Journal of Human Genetics|August 10, 2022
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanodeDana Marafi, Nina Kozar, Ruizhi Duan, et al.
Neuron|January 29, 2013
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disordersElaine T Lim, Soumya Raychaudhuri, Stephan J Sanders, et al.
Human Mutation|August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative geneMir Reza Bekheirnia, Nasim Bekheirnia, Matthew N Bainbridge, et al.
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