 Jonatan Perez, PhD
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| Title(s) | Postdoctoral Scholar, Regeneration Medicine |
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| School | School of Medicine |
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| vCard | Download vCard |
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 Biography | Ben Gurion University of the negev, Israel | B.Sc | 2012 | Life Sciences | | Ben Gurion University of the Negev, Israel | M.Med.Sc | 2014 | Medical Sciences | | Ben Gurion University of the Negev, Israel | PhD | 2018 | Human Genetics |
| Ben Gurion University | 2014 | | M.Med.Sc summa cum laude | | Ben Gurion University | 2015 | | Dean's list for Academic Excellence | | Ben Gurion University | 2017 | | Rector's honor list for Academic Excellence | | Ben Gurion University | 2017 | | Prof. Ya'akov Tal Prize for academic excellence | | Ben Gurion University | 2017 | | Excellence in Bio-Medical Research Award | | UCSF | 2019
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| 2022 | The Gruss Lipper Postdoctoral fellowship |
Bibliographic
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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 Jan 30. PMID: 30715179.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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; PMCID: PMC4967317.
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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; PMCID: PMC4805177.
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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.
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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.
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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; PMCID: PMC3992574.
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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; PMCID: PMC3925282.
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