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Journal of Medical Genetics|October 3, 2015
A human laterality disorder caused by a homozygous deleterious mutation in MMP21Zeev Perles, Sungjin Moon, Asaf Ta-Shma, et al.American Journal of Medical Genetics. Part A|June 14, 2006
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activityJessie M Cameron, Valeriy Levandovskiy, Neviana Mackay, et al.Neurogenetics|October 23, 2014
Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A geneRuth Sheffer, Odeya Bennett-Back, Barak Yaacov, et al.Nature Communications|February 7, 2019
Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathyBoris Fichtman, Fadia Zagairy, Nitzan Biran, et al.Neurogenetics|September 15, 2016
PARP10 deficiency manifests by severe developmental delay and DNA repair defectMaher Awni Shahrour, Claudia M Nicolae, Simon Edvardson, et al.The FEBS Journal|March 11, 2024
Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondriaSara Al Rawi, Lorna Simpson, Guðrún Agnarsdóttir, et al.European Journal of Human Genetics : EJHG|November 28, 2013
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathyRonen Spiegel, Ann Saada, Jonatan Halvardson, et al.Molecular Genetics and Metabolism|October 25, 2011
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencingItai Berger, Ziva Ben-Neriah, Talia Dor-Wolman, et al.Journal of Medical Genetics|April 14, 2012
An SNX10 mutation causes malignant osteopetrosis of infancyMemet Aker, Alex Rouvinski, Saar Hashavia, et al.Epilepsia|December 21, 2012
West syndrome caused by ST3Gal-III deficiencySimon Edvardson, Anna-Maria Baumann, Martina Mühlenhoff, et al.Pageof 22