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Journal of Medical Genetics|August 27, 2015
Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patientsShimon Edvardson, Frank Gerhard, Chaim Jalas, et al.
Annals of Neurology|October 3, 2009
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosisRonen Spiegel, Avraham Shaag, Simon Edvardson, et al.
European Journal of Human Genetics : EJHG|March 5, 2009
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus JewsRonen Spiegel, Avraham Shaag, Hanna Mandel, et al.
European Journal of Medical Genetics|January 2, 2016
An Ashkenazi founder mutation in the PKHD1 geneAdina Quint, Michal Sagi, Shai Carmi, et al.
American Journal of Medical Genetics. Part A|November 21, 2013
Isolated truncus arteriosus associated with a mutation in the plexin-D1 geneAsaf Ta-Shma, Ciro Leonardo Pierri, Polina Stepensky, et al.
European Journal of Human Genetics : EJHG|February 17, 2019
A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathyMalay Patra, Celeste Weiss, Bassam Abu-Libdeh, et al.
Muscle & Nerve|August 23, 2015
Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)Ulla Najwa Abdulhaq, Mohannad Daana, Talia Dor, et al.
European Journal of Medical Genetics|April 9, 2017
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathyYoav Zehavi, Hanna Mandel, Arie Zehavi, et al.
Genome Research|April 14, 2011
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesisYaniv Erlich, Simon Edvardson, Emily Hodges, et al.
European Journal of Human Genetics : EJHG|August 4, 2016
Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunitAvraham Zeharia, Jonathan R Friedman, Ana Tobar, et al.
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