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» Authors » Stavit Shalev

Stavit Shalev

Explore the profile of Stavit Shalev including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 59
Citations 1297
Followers 0
Related Specialties
Genetics
Dermatology
General Medicine
Top 10 Co-Authors
Morad Khayat
Ronen Spiegel
Eli Sprecher
Reuven Bergman
Hanna Mandel
Orly Elpeleg
Ariel Koren
Arnold Munnich
Ofer Sarig
Carina Levin
Published In
Am J Med Genet A
Am J Hum Genet
Eur J Hum Genet
EMBO Mol Med
Prenat Diagn
Affiliations
Soon will be listed here.
Recent Articles
1.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, et al.
Am J Med Genet A . 2023 Jun; 191(8):2113-2131. PMID: 37377026
Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial,...
2.
Bi-allelic FRA10AC1 variants in a multisystem human syndrome
Banka S, Shalev S, Park S, Wood K, Thomas H, Wright H, et al.
Brain . 2022 Jul; 145(10):e86-e89. PMID: 35871492
No abstract available.
3.
Heterozygous variants in the integrin subunit beta 4 gene (ITGB4) cause autosomal dominant nail dystrophy
Malovitski K, Meijers O, Cohen-Barak E, Bergman J, Adir N, Giladi M, et al.
Br J Dermatol . 2022 Jul; 187(5):826-828. PMID: 35822394
No abstract available.
4.
A homozygous variant in is associated with complex hereditary spastic paraplegia
Cohen-Barak E, Danial-Farran N, Chervinsky E, Alimi-Kasem O, Zagairy F, Livneh I, et al.
J Med Genet . 2022 Jun; 60(3):233-240. PMID: 35710109
Background: Monogenic neurodegenerative diseases represent a heterogeneous group of disorders caused by mutations in genes involved in various cellular functions including autophagy, which mediates degradation of cytoplasmic contents by their...
5.
Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA
Key J, Torres-Odio S, Bach N, Gispert S, Koepf G, Reichlmeir M, et al.
Cells . 2021 Dec; 10(12). PMID: 34943861
Biallelic pathogenic variants in , encoding mitochondrial matrix peptidase ClpP, cause a rare autosomal recessive condition, Perrault syndrome type 3 (PRLTS3). It is characterized by primary ovarian insufficiency and early...
6.
Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population
Mohamad J, Samuelov L, Malchin N, Rabinowitz T, Assaf S, Malki L, et al.
Exp Dermatol . 2021 Mar; 30(9):1290-1297. PMID: 33786896
Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital...
7.
An Update on the Cutaneous Manifestations of Darier Disease
Yeshurun A, Ziv M, Cohen-Barak E, Vered S, Rozenman D, Sah M, et al.
J Cutan Med Surg . 2021 Mar; 25(5):498-503. PMID: 33715454
Background: Knowledge about the clinical features of Darier disease, an orphan autosomal-dominant genetic disorder, is sparse and has been evaluated only in few studies. Objectives: To investigate the clinical features...
8.
An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes
Alvarez-Mora M, Todeschini A, Caburet S, Perets L, Mila M, Younis J, et al.
Clin Genet . 2020 Jul; 98(3):293-298. PMID: 32613604
Primary ovarian insufficiency (POI) implies the cessation of menstruation for several months in women before the age of 40 years and is a major cause of infertility. The study of...
9.
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
Caburet S, Todeschini A, Petrillo C, Martini E, Farran N, Legois B, et al.
EBioMedicine . 2019 Apr; 42:524-531. PMID: 31000419
Background: Primary Ovarian Insufficiency (POI), a major cause of infertility, affects about 1-3% of women under forty years of age. Although there is a growing list of causal genetic alterations,...
10.
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
Sharkia R, Wierenga K, Kessel A, Azem A, Bertini E, Carrozzo R, et al.
J Inherit Metab Dis . 2019 Jan; 42(2):264-275. PMID: 30689204
Mitochondrial aconitase is the second enzyme in the tricarboxylic acid (TCA) cycle catalyzing the interconversion of citrate into isocitrate and encoded by the nuclear gene ACO2. A homozygous pathogenic variant...