Stavit A. Shalev

Biochemistry, Genetics and Molecular Biology · Life Sciences

24h-index2.1kcitations63works1.02yr avg
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Research Topics

Genomics and Rare Diseases(8), BRCA gene mutations in cancer(7), Genetics and Neurodevelopmental Disorders(5), Genetic and Kidney Cyst Diseases(4), Genetic Syndromes and Imprinting(4)

Publications63 total

Personal journeys to and in human genetics and dysmorphology
UNC Libraries·2025Open Access
Personal journeys to and in human genetics and dysmorphology
American Journal of Medical Genetics Part A·2024· 2 citedOpen Access
Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population
Journal of Community Genetics·2023· 2 citedOpen Access
The effect of a prior e‐learning tool on genetic counseling outcomes in diverse ethnic couples with abnormal Down syndrome screening tests: A randomized controlled trial
Journal of Genetic Counseling·2023· 1 citedOpen Access
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms
American Journal of Medical Genetics Part A·2023· 37 citedOpen Access
175 Concomitant LZTR1 and NF1 mutations contribute to the diversity of the Neurofibromatosis 1 phenotypic spectrum
Journal of Investigative Dermatology·2021
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes
Clinical Genetics·2021· 3 cited
An exome‐wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes
Clinical Genetics·2020· 15 cited
Homozygote loss-of-function variants in the human <i>COCH</i> gene underlie hearing loss
2020· 1 citedOpen Access
Author response for "An exome‐wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes"
2020
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene <i>BRCA1</i>
Proceedings of the National Academy of Sciences·2018· 45 citedOpen Access
A homozygous mutation of GNRHR in a familial case diagnosed with polycystic ovary syndrome
European Journal of Endocrinology·2017· 26 cited
TBCK‐related intellectual disability syndrome: Case study of two patients
American Journal of Medical Genetics Part A·2016· 18 cited
Response to ‘Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects’: reply from the authors
British Journal of Dermatology·2016
<i>KCNK9</i> imprinting syndrome—further delineation of a possible treatable disorder
American Journal of Medical Genetics Part A·2016· 39 citedOpen Access
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size
PLoS Genetics·2016· 89 citedOpen Access
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families
American Journal of Medical Genetics Part A·2016· 27 citedOpen Access
A non‐sense <i><scp>MCM9</scp></i> mutation in a familial case of primary ovarian insufficiency
Clinical Genetics·2016· 74 cited
<scp>DMRTA2</scp> (<scp><i>DMRT5</i></scp>) is mutated in a novel cortical brain malformation
Clinical Genetics·2016· 34 cited
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency
JIMD Reports·2016· 20 citedOpen Access
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Frequent Co-authors

Joël Zlotogora(8), Morad Khayat(8), Elena Chervinsky(7), Judith G. Hall(6), Orly Elpeleg(5), Ronen Spiegel(5), Dorit Lev(3), Jill Urquhart(3), William G. Newman(3), Sandrine Caburet(3), Reiner A. Veitia(3), John M. Graham(3), Elaine H. Zackai(3), Erica E. Davis(2), Yuval Yaron(2), Arnold Münnich(2), Nicholas Katsanis(2), Mordechai Shohat(2), Mary‐Claire King(2), Tom Walsh(2)