Jonatan Perez, PhD
|
Title(s) | Postdoctoral Scholar, Regeneration Medicine |
---|
School | School of Medicine |
---|
Address | Location Required Varies CA 00000
|
---|
Phone | -- |
---|
vCard | Download vCard |
---|
|
|
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
-
| 2022 | The Gruss Lipper Postdoctoral fellowship |
ORNG Applications Bibliographic
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.
-
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.
View in: PubMed Mentions: 4 Fields: Translation: HumansAnimalsCells
-
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.
View in: PubMed Mentions: 43 Fields: Translation: HumansCells
-
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.
View in: PubMed Mentions: 5 Fields: Translation: HumansAnimalsCells
-
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.
-
Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe. . 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:
-
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: 5 Fields: Translation: HumansAnimalsCells
-
Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (a) 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: 1 Fields: Translation: HumansAnimalsCTClinical Trials
-
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: Fields: Translation: Humans
-
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: 3 Fields: Translation: HumansAnimalsCells
-
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. . 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:
-
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.
View in: PubMed Mentions: 1 Fields: Translation: Humans
-
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: 2 Fields: Translation: HumansAnimalsCells
-
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.
View in: PubMed Mentions: 2 Fields: Translation: Humans
-
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.
View in: PubMed Mentions: 10 Fields: Translation: HumansCells
-
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.
View in: PubMed Mentions: 4 Fields: Translation: HumansAnimalsCells
-
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.
View in: PubMed Mentions: 19 Fields: Translation: HumansAnimalsCells
-
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: 14 Fields: Translation: HumansCells
-
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: 2 Fields: Translation: HumansCells
-
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.
View in: PubMed Mentions: 11 Fields: Translation: Humans
-
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.
View in: PubMed Mentions: 18 Fields: Translation: HumansCells
This graph shows the total number of publications by year. To see the data as text, click here.
This graph shows the total number of publications by year. To return to the graph, click here.
Year | Publications |
---|
2013 | 2 | 2015 | 2 | 2016 | 2 | 2017 | 5 | 2018 | 5 | 2019 | 4 |
This graph shows the number and percent of publications by field.
Fields are based on how the National Library of Medicine (NLM) classifies the publications' journals and might not represent the specific topics of the publications.
Note that an individual publication can be assigned to more than one field. As a result, the publication counts in this graph might add up to more than the number of publications the person has written.
To see the data as text, click here.
This graph shows the number and percent of publications by field.
Fields are based on how the National Library of Medicine (NLM) classifies the publications' journals and might not represent the specific topics of the publications.
Note that an individual publication can be assigned to more than one field. As a result, the publication counts in this graph might add up to more than the number of publications the person has written.
To see the data as text, click here.
newest
oldest
line numbers
double spacing
all authors
publication IDs
|
Derived automatically from this person's publications.
_
People in Profiles who have published with this person.
_
People who share similar concepts with this person.
_
Search Department
_
|