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Harefuah|May 29, 2017
[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE]Lior Cohen, Naama Orenstein, Monica Weisz-Hubshman, et al.
International Journal of Biometeorology|July 1, 2005
Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990-2000Eliahu G Stoupel, Helena Frimer, Zvi Appelman, et al.
American Journal of Medical Genetics. Part A|September 11, 2003
Prenatal diagnosis of Down syndrome: ten year experience in the Israeli populationMordechai Shohat, Helena Frimer, Vered Shohat-Levy, et al.
Genome Biology|September 16, 2011
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesZippora Brownstein, Lilach M Friedman, Hashem Shahin, et al.
European Journal of Human Genetics : EJHG|January 5, 2021
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicingYoel Hirsch, Chayada Tangshewinsirikul, Kevin T Booth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 5, 2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert PanelJun Shen, Andrea M Oza, Ignacio Del Castillo, et al.
Clinical Genetics|October 28, 2020
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1Zippora Brownstein, Suleyman Gulsuner, Tom Walsh, et al.
American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.
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