Jonatan Perez, PhD
Postdoctoral Scholar
Regeneration Medicine
School of Medicine

Awards

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• The Gruss Lipper Postdoctoral fellowship, UCSF, 2019-2022
• Excellence in Bio-Medical Research Award, Ben Gurion University, 2017
• Prof. Ya'akov Tal Prize for academic excellence, Ben Gurion University, 2017
• Rector's honor list for Academic Excellence, Ben Gurion University, 2017
• Dean's list for Academic Excellence, Ben Gurion University, 2015
• M.Med.Sc summa cum laude, Ben Gurion University, 2014

Education & Training

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• PhD Human Genetics Ben Gurion University of the Negev 2018
• M.Med.Sc Medical Sciences Ben Gurion University of the Negev 2014
• B.Sc Life Sciences Ben Gurion University of the negev 2012

Publications (20)

Top publication keywords:
Nystagmus, CongenitalIntellectual DisabilityMutation, MissenseHereditary Sensory and Motor NeuropathyMicrocephalyPhosphorus Metabolism DisordersDyskinesiasInsulin-Like Growth Factor Binding Protein 3Muscle HypotoniaCationsCodon, NonsenseAmino Acid Transport Systems, NeutralNuclear ProteinsHomozygoteConsanguinity

• Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.
  The Journal of clinical investigation 2019 Drabkin M, Yogev Y, Zeller L, Zarivach R, Zalk R, Halperin D, Wormser O, Gurevich E, Landau D, Kadir R, Perez Y, Birk OS
• Single-cell genomics identifies cell type-specific molecular changes in autism.
  Science (New York, N.Y.) 2019 Velmeshev D, Schirmer L, Jung D, Haeussler M, Perez Y, Mayer S, Bhaduri A, Goyal N, Rowitch DH, Kriegstein AR
• Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish.
  Brain : a journal of neurology 2019 Perez Y, Bar-Yaacov R, Kadir R, Wormser O, Shelef I, Birk OS, Flusser H, Birnbaum RY
• SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
  European journal of human genetics : EJHG 2019 Wormser O, Gradstein L, Yogev Y, Perez Y, Kadir R, Goliand I, Sadka Y, El Riati S, Flusser H, Nachmias D, Birk R, Iraqi M, Kadar E, Gat R, Drabkin M, Halperin D, Horev A, Sivan S, Abdu U, Elia N, Birk…
• Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.
  American journal of medical genetics. Part A 2018 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

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• SEC31A mutation affects ER homeostasis, causing a neurological syndrome.
  Journal of medical genetics 2018 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
• Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations.
  Journal of pediatric hematology/oncology 2018 Mijalovsky A, Halperin D, Perez Y, Zafarov B, Shaco-Levy R, Kapelushnik J, Flusser H, Birk OS
• Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel.
  Circulation. Genomic and precision medicine 2018 Drabkin M, Zilberberg N, Menahem S, Mulla W, Halperin D, Yogev Y, Wormser O, Perez Y, Kadir R, Etzion Y, Katz A, Birk OS
• RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.
  Brain : a journal of neurology 2018 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
• A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
  American journal of medical genetics. Part A 2017 Cohen I, Staretz-Chacham O, Wormser O, Perez Y, Saada A, Kadir R, Birk OS
• A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.
  BioMed research international 2017 Perez Y, Wormser O, Sadaka Y, Birk R, Narkis G, Birk OS
• PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay.
  Human mutation 2017 Proskorovski-Ohayon R, Kadir R, Michalowski A, Flusser H, Perez Y, Hershkovitz E, Sivan S, Birk OS
• Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
  European journal of human genetics : EJHG 2017 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
• SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.
  Brain : a journal of neurology 2017 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
• Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
  BMC medical genetics 2016 Gradstein L, Zolotushko J, Sergeev YV, Lavy I, Narkis G, Perez Y, Guigui S, Sharon D, Banin E, Walter E, Lifshitz T, Birk OS
• ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.
  PLoS genetics 2016 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
• 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.
  Journal of medical genetics 2015 Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS
• CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.
  Human molecular genetics 2015 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
• Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.
  European journal of human genetics : EJHG 2013 Perez Y, Gradstein L, Flusser H, Markus B, Cohen I, Langer Y, Marcus M, Lifshitz T, Kadir R, Birk OS
• Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
  European journal of human genetics : EJHG 2013 Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS