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

Sarah Boissel, Orit Reish, Karine Proulx, +14

The American Journal of Human Genetics

Multiple MalformationsDevelopmental BiologyLoss-of-function MutationGenetic DisorderGenetics +7

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, +21

The American Journal of Human Genetics

Developmental BiologyGeneticsPathologyCentral-microtubular-pair AbnormalitiesNeuropathology +2

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, +11

The American Journal of Human Genetics

Mitochondrial BiogenesisMitochondrial FunctionGeneticsMolecular BiologyMitochondrial Medicine +2

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

Julie Désir, Graciela Moya, Orit Reish, +5

Journal of Medical Genetics

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

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, +50

European Journal of Human Genetics

Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsPathogenesis +9

The clinical spectrum of fetal Niemann–Pick type C

Ronen Spiegel, Annick Raas‐Rothschild, Orit Reish, +10

American Journal of Medical Genetics Part A

Fetal MedicineGynecologyPathologyDefectsFetal Growth +15

<scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

Tariq Zaman, Katherine L. Helbig, Jérôme Clatot, +33

Annals of Neurology

Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.

Orit Reish, Danyelle M. Townsend, Susan A. Berry, +2

PubMed

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

Eran Pras, Almogit Abu, Ygal Rotenstreich, +5

PubMed

De Novo Occurrence of Novel SPG3A/Atlastin Mutation Presenting as Cerebral Palsy

Shirley Rainier, Carron Sher, Orit Reish, +2

Archives of Neurology