Stavit A Shalev
Overview
Explore the profile of Stavit A Shalev including associated specialties, affiliations and a list of published articles.
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79
Citations
2010
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0
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Recent Articles
1.
Abu Shtaya A, Nathan S, Kedar I, Friedman E, Half E, Lidzbarsky G, et al.
Fam Cancer
. 2024 Nov;
24(1):6.
PMID: 39546165
Deciphering the spectrum and founder disease-causing variants (DCVs) in specific populations can shape and facilitate the diagnostic process of Lynch Syndrome (LS). The aim of this report was to comprehensively...
2.
Gafni-Amsalem C, Warwar N, Khayat M, Tatour Y, Abuleil-Zuabi O, Campisi-Pinto S, et al.
J Hum Genet
. 2024 Nov;
70(2):99-104.
PMID: 39501123
Regions of homozygosity (ROH) increase the risk of recessive disorders, and guidelines recommend reporting of excessive ROH in prenatal testing. However, ROH are common in populations that practice endogamy or...
3.
Gafni-Amsalem C, Aboleil-Zoubi O, Chervinsky E, Aleme O, Khayat M, Bashir H, et al.
J Community Genet
. 2023 Dec;
15(2):137-146.
PMID: 38114746
Reproductive genetic carrier screening (RGCS) aims to provide couples with information to make informed decisions. Since 2013, the Israeli Carrier Screening Program has been offered routinely and free of charge...
4.
Aboleil-Zoubi O, Gafni-Amsalem C, Peled-Perets L, Mamluk E, Tamir L, Hakrosh S, et al.
J Genet Couns
. 2023 Aug;
33(3):666-676.
PMID: 37632224
Genetic counseling (GC) following abnormal Down syndrome (DS) screening tests aims to ensure learning of complex medical concepts and discussion of counselees' personal desires. Pre-GC use of electronic learning tools...
5.
Ben Yosef T, Banin E, Chervinsky E, Shalev S, Leibu R, Mezer E, et al.
Mol Vis
. 2023 Jun;
29:1-12.
PMID: 37287645
Purpose: This study sought to describe the phenotype frequency and genetic basis of inherited retinal diseases (IRDs) among a nationwide cohort of Israeli Jewish patients of Ethiopian ancestry. Methods: Patients'...
6.
Cohen-Barak E, Toledano-Alhadef H, Danial-Farran N, Livneh I, Mwassi B, Hriesh M, et al.
Exp Dermatol
. 2021 Dec;
31(5):775-780.
PMID: 34913528
Neurofibromatosis 1 (NF1) is caused by germline mutations in the NF1 gene and manifests as proliferation of various tissues, including plexiform neurofibromas. The plexiform neurofibroma phenotype varies from indolent to...
7.
Goldberg Y, Aleme O, Peled-Perets L, Castellvi-Bel S, Nielsen M, Shalev S
NPJ Genom Med
. 2021 Sep;
6(1):78.
PMID: 34556653
Mutated MCM9 has been associated with primary ovarian insufficiency. Although MCM9 plays a role in genome maintenance and has been reported as a candidate gene in a few patients with...
8.
Khayat M, Danial-Farran N, Chervinsky E, Zehavi Y, Peled-Peretz L, Gafni-Amsalem C, et al.
Clin Genet
. 2021 Jul;
100(5):522-528.
PMID: 34297361
As a result of the preference for consanguineous/endogamous marriages, the Israeli Arab population is composed of isolated communities with relatively frequent autosomal recessive (AR) conditions in each community. Clinical diagnosis...
9.
Danial-Farran N, Chervinsky E, Nadar-Ponniah P, Barak E, Taiber S, Khayat M, et al.
Eur J Hum Genet
. 2020 Sep;
29(2):338-342.
PMID: 32939038
Since 1999, the COCH gene encoding cochlin, has been linked to the autosomal dominant non-syndromic hearing loss, DFNA9, with or without vestibular abnormalities. The hearing impairment associated with the variants...
10.
Felipe-Medina N, Caburet S, Sanchez-Saez F, Condezo Y, de Rooij D, Gomez-H L, et al.
Elife
. 2020 Aug;
9.
PMID: 32845237
Primary Ovarian Insufficiency (POI) is a major cause of infertility, but its etiology remains poorly understood. Using whole-exome sequencing in a family with three cases of POI, we identified the...