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American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.American Journal of Human Genetics|December 4, 2014
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegenerationMatthis Synofzik, Tobias B Haack, Robert Kopajtich, et al.Brain : a Journal of Neurology|March 23, 2013
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2Elisabeth Stogmann, Eva Reinthaler, Salwa Eltawil, et al.European Journal of Public Health|February 15, 2022
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI studyVeronika Sanin, Raphael Schmieder, Sara Ates, et al.American Journal of Human Genetics|January 4, 2011
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type IChristian Guelly, Peng-Peng Zhu, Lea Leonardis, et al.American Journal of Human Genetics|January 26, 2016
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with EncephalocardiomyopathyLaura S Kremer, Felix Distelmaier, Bader Alhaddad, et al.The American Journal of Pathology|June 25, 2013
An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune diseaseSibylle Sabrautzki, Eva Janas, Bettina Lorenz-Depiereux, et al.American Journal of Human Genetics|July 16, 2013
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathyTobias B Haack, Robert Kopajtich, Peter Freisinger, et al.Human Mutation|March 22, 2007
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairmentRob W J Collin, Ersan Kalay, Jaap Oostrik, et al.Journal of Medical Genetics|October 2, 2015
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndromeRonja Hollstein, David A Parry, Lisa Nalbach, et al.Pageof 29