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Human Molecular Genetics|June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesisEmanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.Nature|August 30, 2008
Identification of ALK as a major familial neuroblastoma predisposition geneYaël P Mossé, Marci Laudenslager, Luca Longo, et al.Journal of Medical Genetics|November 22, 2014
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndromePaul Kruszka, Dong Li, Margaret H Harr, et al.Cardiology in the Young|September 21, 2017
A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHDConstantine D Mavroudis, Daniel Seung Kim, Nancy Burnham, et al.Nature Communications|January 18, 2018
Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signalingJosephine Elia, Grace Ungal, Charlly Kao, et al.The Journal of Allergy and Clinical Immunology|February 14, 2015
Rare variants at 16p11.2 are associated with common variable immunodeficiencyS Melkorka Maggadottir, Jin Li, Joseph T Glessner, et al.BMC Medical Genetics|May 1, 2015
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2Cecilia Mancini, Laura Orsi, Yiran Guo, et al.American Journal of Obstetrics and Gynecology|April 15, 2020
A genome-wide association study of polycystic ovary syndrome identified from electronic health recordsYanfei Zhang, Kevin Ho, Jacob M Keaton, et al.The Journal of Allergy and Clinical Immunology|May 1, 2024
The common variable immunodeficiency IgM repertoire narrowly recognizes erythrocyte and platelet glycansCarole Le Coz, Melissa Trofa, Dorothy L Butler, et al.BMC Medical Genetics|June 16, 2010
The role of height-associated loci identified in genome wide association studies in the determination of pediatric statureJianhua Zhao, Mingyao Li, Jonathan P Bradfield, et al.Pageof 91