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American Journal of Human Genetics|May 26, 2009
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial diseaseAnn Saada, Rutger O Vogel, Saskia J Hoefs, et al.
Biochimica Et Biophysica Acta|November 1, 2011
A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndromeLock Hock Ngu, Leo G Nijtmans, Felix Distelmaier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2018
Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skinEllen H J van den Bogaard, Michel van Geel, Ivonne M J J van Vlijmen-Willems, et al.
Investigative Ophthalmology & Visual Science|December 17, 2008
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorderKarin W Littink, Maria M van Genderen, Rob W J Collin, et al.
Human Mutation|August 7, 2015
SMAD2 Mutations Are Associated with Arterial Aneurysms and DissectionsDimitra Micha, Dong-Chuan Guo, Yvonne Hilhorst-Hofstee, et al.
Scientific Reports|July 28, 2016
Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytomaSanne A M van Lith, Anna C Navis, Krissie Lenting, et al.
Ophthalmology|March 19, 2013
Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunctionSusanne Roosing, L Ingeborgh van den Born, Carel B Hoyng, et al.
Brain : a Journal of Neurology|December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathyJohannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
Acta Neuropathologica|April 12, 2015
Identification of a novel MET mutation in high-grade glioma resulting in an auto-active intracellular proteinAnna C Navis, Sanne A M van Lith, Sander M J van Duijnhoven, et al.
Journal of Inherited Metabolic Disease|May 18, 2020
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxaMiski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, et al.
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