Sholem Y. Scher

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation

W. Chung, Kai Wang, G. Lyon, 2019, Cold Spring Harbor molecular case studies.

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts

W. Chung, D. Zeevi, J. Ekstein, 2021, Molecular genetics & genomic medicine.

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

D. Zeevi, B. Lam, J. Chiang, 2019, Human Genome Variation.

Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

H. Daum, V. Meiner, J. Zlotogora, 2020, European Journal of Human Genetics.

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

H. Rehm, D. Kolbe, C. Morton, 2021, European Journal of Human Genetics.

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

H. Rehm, D. Kolbe, C. Morton, 2021, European Journal of Human Genetics.

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss

G. Schiavo, Wendy K. Chung, A. Rossor, 2023, International journal of molecular sciences.