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Journal of Neuromuscular Diseases|June 13, 2022
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-SequencingAlexander Mensch, Isabell Cordts, Leila Scholle, et al.Brain : a Journal of Neurology|April 26, 2022
The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort studyTim W Rattay, Maximilian Völker, Maren Rautenberg, et al.European Journal of Human Genetics : EJHG|November 8, 2021
Combining callers improves the detection of copy number variants from whole-genome sequencingMarie Coutelier, Manuel Holtgrewe, Marten Jäger, et al.JIMD Reports|June 21, 2018
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic EncephalopathyArcangela Iuso, Bader Alhaddad, Corina Weigel, et al.American Journal of Human Genetics|May 22, 2012
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosisDaniele Ghezzi, Enrico Baruffini, Tobias B Haack, et al.Multiple Sclerosis Journal - Experimental, Translational and Clinical|July 29, 2024
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing studyJulia M Mandler, Johanna Härtl, Isabell Cordts, et al.Human Mutation|June 22, 2021
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorderFrancesca Semino, Julian Schröter, Marjolein H Willemsen, et al.Journal of Medical Genetics|January 29, 2022
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophySinja Kieninger, Ting Xiao, Nicole Weisschuh, et al.Journal of Inherited Metabolic Disease|March 18, 2015
Spectrum of combined respiratory chain defectsJohannes A Mayr, Tobias B Haack, Peter Freisinger, et al.American Journal of Medical Genetics. Part A|October 22, 2014
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literatureNadja Ehmke, Nima Parvaneh, Peter Krawitz, et al.Pageof 39