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Cell Reports|October 28, 2020
Reduced GABAergic Neuron Excitability, Altered Synaptic Connectivity, and Seizures in a KCNT1 Gain-of-Function Mouse Model of Childhood EpilepsyAmy N Shore, Sophie Colombo, William F Tobin, et al.Nature Genetics|June 2, 2009
HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillinAnn K Daly, Peter T Donaldson, Pallav Bhatnagar, et al.American Journal of Human Genetics|November 27, 2012
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesisDanit Oz-Levi, Bruria Ben-Zeev, Elizabeth K Ruzzo, et al.Plos Genetics|January 23, 2008
Discerning the ancestry of European Americans in genetic association studiesAlkes L Price, Johannah Butler, Nick Patterson, et al.Plos Genetics|March 21, 2009
A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility lociSreekumar G Pillai, Dongliang Ge, Guohua Zhu, et al.American Journal of Medical Genetics. Part A|September 27, 2021
Genomic analysis of "microphenotypes" in epilepsyKate Stanley, Joseph Hostyk, Linh Tran, et al.Human Molecular Genetics|February 2, 2013
A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia AJérôme Lane, Paul J McLaren, Lucy Dorrell, 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.Journal of Extracellular Vesicles|January 25, 2021
Dissemination of Mycobacterium tuberculosis is associated to a SIGLEC1 null variant that limits antigen exchange via trafficking extracellular vesiclesSusana Benet, Cristina Gálvez, Francis Drobniewski, et al.Pageof 51