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American Journal of Medical Genetics. Part A|March 23, 2017
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathyRajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, et al.American Journal of Medical Genetics. Part A|June 20, 2012
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping casesSamantha A Schrier, Joann N Bodurtha, Barbara Burton, et al.Clinical Genetics|January 13, 2016
DMRTA2 (DMRT5) is mutated in a novel cortical brain malformationJ E Urquhart, G Beaman, H Byers, et al.Pediatric Diabetes|October 22, 2013
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorderStavit A Shalev, Yardena Tenenbaum-Rakover, Yoseph Horovitz, et al.Experimental Dermatology|December 16, 2021
Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitorEran Cohen-Barak, Hagit Toledano-Alhadef, Nada Danial-Farran, et al.Journal of Medical Genetics|November 13, 2015
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutationRonen Spiegel, Ann Saada, Padraig J Flannery, et al.Genes|July 29, 2025
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical DiagnosisSofia Kulyamzin, Rina Leibu, Hadas Newman, et al.Elife|August 27, 2020
A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1Natalia Felipe-Medina, Sandrine Caburet, Fernando Sánchez-Sáez, et al.American Journal of Human Genetics|January 1, 2013
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasiaCéline Huber, Eissa Ali Faqeih, Deborah Bartholdi, et al.American Journal of Human Genetics|January 8, 2011
NEK1 mutations cause short-rib polydactyly syndrome type majewskiChristian Thiel, Kristin Kessler, Andreas Giessl, et al.Pageof 25