Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

Constantine A. Stratakis, J A Carney, Jing‐Ping Lin, +5

Journal of Clinical Investigation

Short ArmBlood SamplesMendelian DisorderFamily MembersGenetic Disorder +13

Clinical differences between North African and Iraqi Jews with familial Mediterranean fever

Eran Pras, Avi Livneh, James E. Balow, +4

American Journal of Medical Genetics

Disease EtiologyGenetic EpidemiologyImmunologyPathologyDisease Gene Identification +16

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.

Elon Pras, Moshe Frydman, Etgar Levy‐Nissenbaum, +5

PubMed

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

Jianjun Chen, Zhiwei Ma, Xiaodong Jiao, +9

The American Journal of Human Genetics

MedicineGeneticsCataractOphthalmology

Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

Almogit Abu, Moshe Frydman, Dina Marek, +1

The American Journal of Human Genetics

Zinc-finger 469Mendelian DisorderOphthalmologyGenetic DisorderCorneal Dystrophy +6

Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever.

Yael Shinar, Avi Livneh, Pnina Langevitz, +6

PubMed

Association of COVID-19 Vaccination and Facial Nerve Palsy

Asaf Shemer, Eran Pras, Adi Einan‐Lifshitz, +2

JAMA Otolaryngology–Head & Neck Surgery

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

Dror Sharon, Tamar Ben‐Yosef, Nitza Goldenberg‐Cohen, +18

Human Mutation

Ocular DiseaseGeneticsGenetic EpidemiologyNationwide Genetic AnalysisDisease Gene Identification +15

A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family

Eran Pras, Etgar Levy‐Nissenbaum, Tangiz Bakhan, +6

The American Journal of Human Genetics

Allelic VariantGenetic DisorderGeneticsMissense MutationPathology +5

Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex).

Constantine A. Stratakis, Robert B. Jenkins, Eran Pras, +6

The Journal of Clinical Endocrinology & Metabolism

GeneticsPathologyMicrosatellite AlterationsCc GeneDermatology +18