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Jonatan Perez, PhD

Title(s)Postdoctoral Scholar, Regeneration Medicine
SchoolSchool of Medicine
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    Collapse Biography 
    Collapse Education and Training
    Ben Gurion University of the negev, IsraelB.Sc2012Life Sciences
    Ben Gurion University of the Negev, IsraelM.Med.Sc2014Medical Sciences
    Ben Gurion University of the Negev, IsraelPhD2018Human Genetics
    Collapse Awards and Honors
    Ben Gurion University2014M.Med.Sc summa cum laude
    Ben Gurion University2015Dean's list for Academic Excellence
    Ben Gurion University2017Rector's honor list for Academic Excellence
    Ben Gurion University2017Prof. Ya'akov Tal Prize for academic excellence
    Ben Gurion University2017Excellence in Bio-Medical Research Award
    UCSF2019  - 2022The Gruss Lipper Postdoctoral fellowship

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Perez Y, Bar-Yaacov R, Kadir R, Wormser O, Shelef I, Birk OS, Flusser H, Birnbaum RY. Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish. Brain. 2019 Mar 01; 142(3):574-585. PMID: 30715179.
      View in: PubMed
    2. Wormser O, Gradstein L, Kadar E, Yogev Y, Perez Y, Mashkit E, Elbedour K, Drabkin M, Markus B, Kadir R, Halperin D, Khalaila S, Levy J, Lifshitz T, Manor E, Birk OS. Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe. Am J Med Genet A. 2018 Dec; 176(12):2695-2703. PMID: 30513137.
      View in: PubMed
    3. Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS. SEC31A mutation affects ER homeostasis, causing a neurological syndrome. J Med Genet. 2019 Mar; 56(3):139-148. PMID: 30464055.
      View in: PubMed
    4. Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (a) Subunit of the Cardiac Kv4.2 Potassium Channel.Circulation: Genomic and Precision Medicine. 2018; 11(11):e002293.
    5. Mijalovsky A, Halperin D, Perez Y, Zafarov B, Shaco-Levy R, Kapelushnik J, Flusser H, Birk OS. Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations. J Pediatr Hematol Oncol. 2018 Nov; 40(8):e511-e515. PMID: 30124550.
      View in: PubMed
    6. Perez Y, Menascu S, Cohen I, Kadir R, Basha O, Shorer Z, Romi H, Meiri G, Rabinski T, Ofir R, Yeger-Lotem E, Birk OS. RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3. Brain. 2018 Apr 01; 141(4):961-970. PMID: 29522154.
      View in: PubMed
    7. Cohen I, Staretz-Chacham O, Wormser O, Perez Y, Saada A, Kadir R, Birk OS. A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. Am J Med Genet A. 2018 02; 176(2):330-336. PMID: 29226520.
      View in: PubMed
    8. Perez Y, Wormser O, Sadaka Y, Birk R, Narkis G, Birk OS. A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers. Biomed Res Int. 2017; 2017:3470234. PMID: 29119105.
      View in: PubMed
    9. Proskorovski-Ohayon R, Kadir R, Michalowski A, Flusser H, Perez Y, Hershkovitz E, Sivan S, Birk OS. PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay. Hum Mutat. 2017 12; 38(12):1671-1683. PMID: 28779497.
      View in: PubMed
    10. Yogev Y, Perez Y, Noyman I, Madegem AA, Flusser H, Shorer Z, Cohen E, Kachko L, Michaelovsky A, Birk R, Koifman A, Drabkin M, Wormser O, Halperin D, Kadir R, Birk OS. Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. Eur J Hum Genet. 2017 08; 25(8):966-972. PMID: 28488683.
      View in: PubMed
    11. Perez Y, Shorer Z, Liani-Leibson K, Chabosseau P, Kadir R, Volodarsky M, Halperin D, Barber-Zucker S, Shalev H, Schreiber R, Gradstein L, Gurevich E, Zarivach R, Rutter GA, Landau D, Birk OS. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. Brain. 2017 Apr 01; 140(4):928-939. PMID: 28334855.
      View in: PubMed
    12. Gradstein L, Zolotushko J, Sergeev YV, Lavy I, Narkis G, Perez Y, Guigui S, Sharon D, Banin E, Walter E, Lifshitz T, Birk OS. Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred. BMC Med Genet. 2016 07 30; 17(1):52. PMID: 27475985.
      View in: PubMed
    13. Kadir R, Harel T, Markus B, Perez Y, Bakhrat A, Cohen I, Volodarsky M, Feintsein-Linial M, Chervinski E, Zlotogora J, Sivan S, Birnbaum RY, Abdu U, Shalev S, Birk OS. ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size. PLoS Genet. 2016 Mar; 12(3):e1005919. PMID: 27008544.
      View in: PubMed
    14. Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS. UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. J Med Genet. 2016 06; 53(6):397-402. PMID: 26545877.
      View in: PubMed
    15. Volodarsky M, Lichtig H, Leibson T, Sadaka Y, Kadir R, Perez Y, Liani-Leibson K, Gradstein L, Shaco-Levy R, Shorer Z, Frank D, Birk OS. CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay. Hum Mol Genet. 2015 Nov 15; 24(22):6485-91. PMID: 26358778.
      View in: PubMed
    16. Perez Y, Gradstein L, Flusser H, Markus B, Cohen I, Langer Y, Marcus M, Lifshitz T, Kadir R, Birk OS. Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. Eur J Hum Genet. 2014 May; 22(5):703-6. PMID: 24045842.
      View in: PubMed
    17. Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS. Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. Eur J Hum Genet. 2014 Mar; 22(3):374-8. PMID: 23860037.
      View in: PubMed