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American Journal of Medical Genetics. Part A|September 27, 2021
Genomic analysis of "microphenotypes" in epilepsyKate Stanley, Joseph Hostyk, Linh Tran, et al.Lancet (London, England)|February 5, 2019
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort studySlavé Petrovski, Vimla Aggarwal, Jessica L Giordano, et al.Journal of Medical Genetics|January 24, 2007
Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutationSanjay M Sisodiya, Pamela J Thompson, Anna Need, et al.Annals of Neurology|February 2, 2006
UCHL-1 is not a Parkinson's disease susceptibility geneDaniel G Healy, Patrick M Abou-Sleiman, Juan P Casas, et al.Brain Communications|August 16, 2021
Alternating hemiplegia of childhood: evolution over time and mouse model corroborationJulie Uchitel, Keri Wallace, Linh Tran, et al.Nature Metabolism|March 24, 2021
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal diseaseKevin Eade, Marin L Gantner, Joseph A Hostyk, et al.Nature Neuroscience|June 29, 2021
Exome sequencing in obsessive-compulsive disorder reveals a burden of rare damaging coding variantsMathew Halvorsen, Jack Samuels, Ying Wang, et al.Annals of Neurology|December 19, 2022
Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe EpilepsyPiero Perucca, Kate Stanley, Natasha Harris, et al.Gastroenterology|July 20, 2010
A polymorphism near IL28B is associated with spontaneous clearance of acute hepatitis C virus and jaundiceHans L Tillmann, Alex J Thompson, Keyur Patel, et al.Journal of the American Society of Nephrology : JASN|May 16, 2019
Exome-Based Rare-Variant Analyses in CKDSophia Cameron-Christie, Charles J Wolock, Emily Groopman, et al.Pageof 34