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European Journal of Human Genetics : EJHG|July 21, 2016
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowthJohanna Schäfgen, Kirsten Cremer, Jessica Becker, et al.
Clinical Genetics|October 10, 2018
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathyMatthias Baumann, Herbert Schreiber, Beate Schlotter-Weigel, et al.
Nature Genetics|May 26, 2009
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathyDaniele Ghezzi, Paola Goffrini, Graziella Uziel, et al.
Neurogenetics|February 10, 2015
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalitiesFabian Baertling, Tobias B Haack, Richard J Rodenburg, et al.
Human Molecular Genetics|January 7, 2015
CRIM1 haploinsufficiency causes defects in eye development in human and mouseFilippo Beleggia, Yun Li, Jieqing Fan, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalitiesDiran Herebian, Bader Alhaddad, Annette Seibt, et al.
Ebiomedicine|October 13, 2016
CACNA1H Mutations Are Associated With Different Forms of Primary AldosteronismGeorgios Daniil, Fabio L Fernandes-Rosa, Jean Chemin, 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.
American Journal of Human Genetics|December 17, 2005
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3Bettina Lorenz-Depiereux, Anna Benet-Pages, Gertrud Eckstein, et al.
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