Morad Khayat

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous <i>OPA1</i> mutation

Ronen Spiegel, Ann Saada, Padraig J. Flannery et al. · Journal of Medical Genetics · 2015 · 114 citations · Full text

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

Ronen Spiegel, Ann Saada, Jonatan Halvardson et al. · European Journal of Human Genetics · 2013 · 83 citations · Full text

Mitochondrial Myopathy, Deleterious Mutation, Mendelian Disorder +7

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

Ronen Spiegel, Morad Khayat, Stavit A. Shalev et al. · Journal of Medical Genetics · 2010 · 68 citations

Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small‐platelet thrombocytopenia

Carina Levin, Ariel Koren, Etheresia Pretorius et al. · Journal of Thrombosis and Haemostasis · 2015 · 65 citations · Full text

Platelet Biology, Thrombosis, Deleterious Mutation +11

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm

Moran Gal, Daniella Magen, Younan Zahran et al. · European Journal of Medical Genetics · 2016 · 43 citations

Mendelian Disorder, Genetic Disorder, Genetics +10