Orit Reish

Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

Sarah Boissel, Orit Reish, Karine Proulx et al. · The American Journal of Human Genetics · 2009 · 394 citations · Full text

Multiple Malformations, Developmental Biology, Loss-of-function Mutation +9

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

Victoria Castleman, Leila Romio, Rahul Chodhari et al. · The American Journal of Human Genetics · 2009 · 341 citations · Full text

Developmental Biology, Genetics, Pathology +4

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Ann Saada, Rutger O. Vogel, Saskia J.G. Hoefs et al. · The American Journal of Human Genetics · 2009 · 169 citations · Full text

Mitochondrial Biogenesis, Mitochondrial Function, Genetics +4

Borate transporter <i>SLC4A11</i> mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

Julie Désir, Graciela Moya, Orit Reish et al. · Journal of Medical Genetics · 2007 · 163 citations · Full text

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 147 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +11