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American Journal of Human Genetics|August 23, 2016
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in FemalesJennifer M Bain, Megan T Cho, Aida Telegrafi, et al.Clinical Genetics|October 6, 2021
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defectsAlistair T Pagnamenta, Adam Jackson, Rahat Perveen, et al.Blood|November 22, 2014
Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiencyPolina Stepensky, Anne Rensing-Ehl, Ruth Gather, et al.American Journal of Human Genetics|January 17, 2012
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasminPeter Huppke, Cornelia Brendel, Vera Kalscheuer, et al.Orphanet Journal of Rare Diseases|June 18, 2015
Clinical and biochemical characterization of four patients with mutations in ECHS1Sacha Ferdinandusse, Marisa W Friederich, Alberto Burlina, et al.Human Mutation|June 29, 2010
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhoodCaroline Michot, Laurence Hubert, Michèle Brivet, et al.American Journal of Medical Genetics. Part A|September 24, 2018
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutationsMirna Assoum, Matthew A Lines, Orly Elpeleg, et al.American Journal of Human Genetics|November 15, 2011
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteinsAleix Navarro-Sastre, Frederic Tort, Oliver Stehling, et al.Journal of Medical Genetics|June 5, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelinationNadirah Damseh, Alexandre Simonin, Chaim Jalas, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsyLydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, et al.Pageof 22