Jonatan Perez, PhD

Title(s)Postdoctoral Scholar, Regeneration Medicine
SchoolSchool of Medicine
AddressLocation Required, #001
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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

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    Collapse Featured Publications

    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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase. J Clin Invest. 2019 12 02; 129(12):5163-5168. Drabkin M, Yogev Y, Zeller L, Zarivach R, Zalk R, Halperin D, Wormser O, Gurevich E, Landau D, Kadir R, Perez Y, Birk OS. PMID: 31638601; PMCID: PMC6877321.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCells
    2. Single-cell genomics identifies cell type-specific molecular changes in autism. Science. 2019 05 17; 364(6441):685-689. Velmeshev D, Schirmer L, Jung D, Haeussler M, Perez Y, Mayer S, Bhaduri A, Goyal N, Rowitch DH, Kriegstein AR. PMID: 31097668; PMCID: PMC7678724.
      View in: PubMed   Mentions: 322     Fields:    Translation:HumansCells
    3. Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish. Brain. 2019 03 01; 142(3):574-585. Perez Y, Bar-Yaacov R, Kadir R, Wormser O, Shelef I, Birk OS, Flusser H, Birnbaum RY. PMID: 30715179; PMCID: PMC6391606.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansAnimalsCells
    4. SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. Eur J Hum Genet. 2019 06; 27(6):928-940. 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 OS. PMID: 30723319; PMCID: PMC6777442.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
    5. 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 12; 176(12):2695-2703. 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. PMID: 30513137.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    6. SEC31A mutation affects ER homeostasis, causing a neurological syndrome. J Med Genet. 2019 03; 56(3):139-148. 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. PMID: 30464055.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimalsCells
    7. Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel. Circ Genom Precis Med. 2018 11; 11(11):e002293. Drabkin M, Zilberberg N, Menahem S, Mulla W, Halperin D, Yogev Y, Wormser O, Perez Y, Kadir R, Etzion Y, Katz A, Birk OS. PMID: 30571183.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCTClinical Trials
    8. Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations. J Pediatr Hematol Oncol. 2018 11; 40(8):e511-e515. Mijalovsky A, Halperin D, Perez Y, Zafarov B, Shaco-Levy R, Kapelushnik J, Flusser H, Birk OS. PMID: 30124550.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    9. RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3. Brain. 2018 04 01; 141(4):961-970. 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. PMID: 29522154.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    10. A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. Am J Med Genet A. 2018 02; 176(2):330-336. Cohen I, Staretz-Chacham O, Wormser O, Perez Y, Saada A, Kadir R, Birk OS. PMID: 29226520.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    11. 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. Perez Y, Wormser O, Sadaka Y, Birk R, Narkis G, Birk OS. PMID: 29119105; PMCID: PMC5651094.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    12. PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay. Hum Mutat. 2017 12; 38(12):1671-1683. Proskorovski-Ohayon R, Kadir R, Michalowski A, Flusser H, Perez Y, Hershkovitz E, Sivan S, Birk OS. PMID: 28779497.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    13. Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. Eur J Hum Genet. 2017 08; 25(8):966-972. 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. PMID: 28488683; PMCID: PMC5567152.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    14. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. Brain. 2017 Apr 01; 140(4):928-939. 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. PMID: 28334855; PMCID: PMC5837213.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansCells
    15. Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred. BMC Med Genet. 2016 07 30; 17(1):52. Gradstein L, Zolotushko J, Sergeev YV, Lavy I, Narkis G, Perez Y, Guigui S, Sharon D, Banin E, Walter E, Lifshitz T, Birk OS. PMID: 27475985; PMCID: PMC4967317.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    16. ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size. PLoS Genet. 2016 Mar; 12(3):e1005919. 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. PMID: 27008544; PMCID: PMC4805177.
      View in: PubMed   Mentions: 46     Fields:    Translation:HumansAnimalsCells
    17. 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. Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS. PMID: 26545877.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    18. 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. 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. PMID: 26358778.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    19. 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. Perez Y, Gradstein L, Flusser H, Markus B, Cohen I, Langer Y, Marcus M, Lifshitz T, Kadir R, Birk OS. PMID: 24045842; PMCID: PMC3992574.
      View in: PubMed   Mentions: 25     Fields:    Translation:Humans
    20. 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. Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS. PMID: 23860037; PMCID: PMC3925282.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
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