The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

Martial Mallaret, Matthis Synofzik, Jae‐Ho Lee, +16

Brain

Neurobiology Of DiseaseMendelian DisorderNeurological DisorderMedicineGenetics +13

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Martina Minnerop, Delia Kurzwelly, Holger Wagner, +53

Brain

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

Holger Hengel, Rebecca Buchert, Marc Sturm, +16

European Journal of Human Genetics

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

Anja K. Mayer, Muhammad Mahajnah, Mervyn G. Thomas, +14

Brain

Thumb HypoplasiaOcular DiseaseDevelopmental BiologyMendelian DisorderOphthalmology +10

<i>CNTNAP1</i> mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

Holger Hengel, Alex Magee, Muhammad Mahanjah, +11

Neurology Genetics

A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome

Rajech Sharkia, Abdelnaser Zalan, Azhar Jabareen‐Masri, +2

European Journal of Medical Genetics

Intellectual ImpairmentDevelopmental DisabilityPsychiatryGenetic DisorderDisability +7

Clinical, radiological, and genetic characteristics of 16 patients with <i>ACO2</i> gene defects: Delineation of an emerging neurometabolic syndrome

Rajech Sharkia, Klaas J. Wierenga, Amit Kessel, +16

Journal of Inherited Metabolic Disease

CHANGES IN MARRIAGE PATTERNS AMONG THE ARAB COMMUNITY IN ISRAEL OVER A 60-YEAR PERIOD

Rajech Sharkia, Muhammad Mahajnah, Esmael Athamny, +3

Journal of Biosocial Science

Early MarriageFamily RelationshipPolygamyArab CommunitySociology +11

Comparative screening of FMF mutations in various communities of the Israeli society

Rajech Sharkia, Muhammad Mahajnah, Abdelnaser Zalan, +4

European Journal of Medical Genetics

Fmf MutationsIsraeli SocietyMendelian DisorderGenetic DisorderGenetics +9

Clinical Characteristics of Autism Spectrum Disorder in Israel: Impact of Ethnic and Social Diversities

Muhammad Mahajnah, Rajech Sharkia, Haitham Shalabe, +3

BioMed Research International

Neurodevelopmental DisordersArab ChildrenPsychiatryMedicineSocial Diversities +12