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S. Shalev · SciRah

Researcher profile · Semantic Scholar

S. Shalev

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S. Shalev — researcher profile on SciRah

h-index: 45
Works: 198
Citations: 8,361

Most-cited papers

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
G. Rice, G. Forte, M. Szynkiewicz, D. Chase +52 more
2013Lancet Neurology423 citations Open access
Semantic Scholar
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
J. Robitaille, Roxanne M. Gillett, Marissa A. LeBlanc, D. Gaston +17 more
2014JAMA ophthalmology138 citations
Semantic Scholar
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
R. Spiegel, Ann Saada, Padraig J. Flannery, F. Burté +12 more
2015Journal of Medical Genetics114 citations Open access
Semantic Scholar
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
R. Spiegel, O. Pines, Asaf Ta-Shma, Efrat Burak +9 more
2012American Journal of Human Genetics109 citations Open access
Semantic Scholar
Expanding the genotypic spectrum of Perrault syndrome
L. Demain, J. Urquhart, J. O'Sullivan, S. Williams +14 more
2017Clinical Genetics94 citations Open access
Semantic Scholar
The Coffin-Siris syndrome: A Proposed Diagnostic Approach and Assessment of 15 Overlapping Cases
Samantha A. Schrier, Joann N. Bodurtha, B. Burton, A. Chudley +8 more
2012American Journal of Medical Genetics. Part A82 citations Open access
Semantic Scholar
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size
R. Kadir, T. Harel, B. Markus, Y. Perez +11 more
2016PLoS Genetics81 citations Open access
Semantic Scholar
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy
R. Spiegel, Ann Saada, J. Halvardson, Devorah Soiferman +7 more
2013European Journal of Human Genetics77 citations Open access
Semantic Scholar
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
M. Srour, F. Hamdan, D. McKnight, E. Davis +29 more
2015American Journal of Human Genetics72 citations Open access
Semantic Scholar
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
B. Solomon, K. Bear, Adrian Wyllie, Amelia A. Keaton +41 more
2012Journal of Medical Genetics72 citations Open access
Semantic Scholar
A non‐sense MCM9 mutation in a familial case of primary ovarian insufficiency
F. Fauchereau, S. Shalev, E. Chervinsky, R. Beck-Fruchter +4 more
2016Clinical Genetics71 citations
Semantic Scholar
Prevention of β Thalassemia in Northern Israel - a Cost-Benefit Analysis
A. Koren, L. Profeta, L. Zalman, H. Palmor +4 more
2014Mediterranean Journal of Hematology and Infectious Diseases67 citations Open access
Semantic Scholar
Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small‐platelet thrombocytopenia
C. Levin, A. Koren, E. Pretorius, N. Rosenberg +7 more
2015Journal of Thrombosis and Haemostasis63 citations Open access
Semantic Scholar
A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks
S. Caburet, Anne-Laure Todeschini, Cynthia Petrillo, E. Martini +6 more
2019EBioMedicine62 citations Open access
Semantic Scholar
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
O. Sarig, S. Nahum, D. Rapaport, A. Ishida-Yamamoto +12 more
2012American Journal of Human Genetics61 citations Open access
Semantic Scholar
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
C. Huber, E. Faqeih, D. Bartholdi, C. Bôle-Feysot +12 more
2013American Journal of Human Genetics53 citations Open access
Semantic Scholar
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy
R. Spiegel, A. Shaag, S. Shalev, O. Elpeleg
2016Neurogenetics48 citations
Semantic Scholar
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis
A. Peled, O. Sarig, L. Samuelov, M. Bertolini +20 more
2016PLoS Genetics47 citations Open access
Semantic Scholar
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1
Aaron Seo, O. Steinberg-Shemer, S. Unal, S. Casadei +7 more
2018Proceedings of the National Academy of Sciences of the United States of America45 citations Open access
Semantic Scholar
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.
G. Heimer, D. Oz-Levi, E. Eyal, S. Edvardson +14 more
2016European journal of paediatric neurology44 citations
Semantic Scholar
Microcephaly, Epilepsy and Neonatal Diabetes Due to Compound Heterozygous Mutations in IER3IP1: Insights into the Natural History of a Rare Disorder
S. Shalev, Y. Tenenbaum‐Rakover, Y. Horovitz, V. Paz +10 more
2013Pediatric Diabetes44 citations Open access
Semantic Scholar
Genomic Analyses in Cornelia de Lange Syndrome and Related Diagnoses: Novel Candidate Genes, Genotype-Phenotype Correlations and Common Mechanisms
M. Kaur, J. Blair, B. Devkota, Sierra Fortunato +93 more
2023American Journal of Medical Genetics. Part A43 citations Open access
Semantic Scholar
Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship
R. Spiegel, H. Mandel, Ann Saada, I. Lerer +9 more
2014European Journal of Human Genetics42 citations Open access
Semantic Scholar
Cornelia de Lange Syndrome in Diverse Populations
Leah Dowsett, A. R. Porras, P. Kruszka, Brandon Davis +63 more
2019American Journal of Medical Genetics. Part A40 citations Open access
Semantic Scholar
A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1
Natalia Felipe-Medina, S. Caburet, Fernando Sánchez-Sáez, Yazmine B Condezo +10 more
2020eLife38 citations Open access
Semantic Scholar
KCNK9 imprinting syndrome—further delineation of a possible treatable disorder
J. Graham, N. Zadeh, M. Kelley, E. Tan +6 more
2016American Journal of Medical Genetics. Part A38 citations Open access
Semantic Scholar
Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects
R. Dodiuk-Gad, E. Cohen-Barak, M. Khayat, H. Milo +10 more
2016British Journal of Dermatology35 citations
Semantic Scholar
A PIGN Mutation Responsible for Multiple Congenital Anomalies–Hypotonia–Seizures Syndrome 1 (MCAHS1) in an Israeli–Arab Family
M. Khayat, Joseph Tilghman, Ilana Chervinsky, L. Zalman +2 more
2015American Journal of Medical Genetics. Part A31 citations Open access
Semantic Scholar
SAM syndrome is characterized by extensive phenotypic heterogeneity
S. Taiber, L. Samuelov, J. Mohamad, E. Barak +4 more
2018Experimental Dermatology30 citations
Semantic Scholar
DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation
J. Urquhart, G. Beaman, H. Byers, N. A. Roberts +11 more
2016Clinical Genetics29 citations
Semantic Scholar
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families
J. Urquhart, R. Roberts, D. D. de Silva, S. Shalev +10 more
2016American Journal of Medical Genetics. Part A28 citations
Semantic Scholar
Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist.
W. Sakran, S. Shalev, H. El-Shanti, Y. Uziel
2013The Pediatric Infectious Disease Journal28 citations Open access
Semantic Scholar
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.
D. Walsh, S. Shalev, M. Simpson, N. Morgan +4 more
2013European Journal of Medical Genetics28 citations Open access
Semantic Scholar
A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy
Ben Cohen, E. Chervinsky, H. Jabaly-Habib, S. Shalev +2 more
2012Molecular Vision28 citations
Semantic Scholar
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
R. Sharkia, K. Wierenga, Amit Kessel, A. Azem +15 more
2019Journal of Inherited Metabolic Disease27 citations
Semantic Scholar
Genetics of hearing loss in the Arab population of Northern Israel
N. Danial-Farran, Zippora Brownstein, S. Gulsuner, Luna Tammer +9 more
2018European Journal of Human Genetics26 citations Open access
Semantic Scholar
Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.
H. Mandel, Ksenya Cohen Katsanelson, M. Khayat, Ilana Chervinsky +7 more
2014European Journal of Medical Genetics26 citations
Semantic Scholar
Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population
J. Mohamad, L. Samuelov, N. Malchin, T. Rabinowitz +21 more
2021Experimental Dermatology24 citations
Semantic Scholar
Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome
T. Falik-Zaccai, Y. Barsheshet, H. Mandel, M. Segev +23 more
2017EMBO Molecular Medicine24 citations Open access
Semantic Scholar
A homozygous mutation of GNRHR in a familial case diagnosed with polycystic ovary syndrome.
S. Caburet, R. B. Fruchter, Bérangère Legois, M. Fellous +2 more
2017European Journal of Endocrinology23 citations Open access
Semantic Scholar
The role of Desmoglein 1 in gap junction turnover revealed through the study of SAM syndrome
Eran Cohen Barak, L. Godsel, J. Koetsier, Marihan Hegazy +15 more
2019Journal of Investigative Dermatology22 citations Open access
Semantic Scholar
Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra‐familial phenotypic variability
M. Gal, E. Levanon, Y. Hujeirat, M. Khayat +2 more
2014American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia
G. Caridi, M. Dagnino, F. Lugani, S. Shalev +4 more
2013European Journal of Clinical Investigation21 citations
Semantic Scholar
An Update on the Cutaneous Manifestations of Darier Disease
Algit Yeshurun, M. Ziv, E. Cohen-Barak, Shiraz Vered +8 more
2021Journal of Cutaneous Medicine and Surgery20 citations
Semantic Scholar
Characteristics of genetic diseases in consanguineous populations in the genomic era: Lessons from Arab communities in North Israel
S. Shalev
2019Clinical Genetics20 citations
Semantic Scholar
A homozygous TTN gene variant associated with lethal congenital contracture syndrome
E. Chervinsky, M. Khayat, Sofia Soltsman, Hatem Habiballa +2 more
2018American Journal of Medical Genetics. Part A20 citations
Semantic Scholar
An exome‐wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes
M. I. Álvarez-Mora, Anne-Laure Todeschini, S. Caburet, Lilach Peled Perets +4 more
2020Clinical Genetics19 citations Open access
Semantic Scholar
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.
R. Spiegel, Devorah Soiferman, A. Shaag, S. Shalev +2 more
2016JIMD Reports19 citations Open access
Semantic Scholar
Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome
T. Falik-Zaccai, Y. Barsheshet, H. Mandel, M. Segev +23 more
2017EMBO Molecular Medicine18 citations Open access
Semantic Scholar
A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy.
Z. Atay, A. Bereket, S. Turan, B. Haliloglu +4 more
2013Gene18 citations Open access
Semantic Scholar

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