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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.
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PubMed Mentions:
7 Fields:
Translation:
HumansAnimalsCells
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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.
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153 Fields:
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HumansCells
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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.
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PubMed Mentions:
11 Fields:
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HumansAnimalsCells
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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.
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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.
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Humans
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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.
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PubMed Mentions:
10 Fields:
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HumansAnimalsCells
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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.
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PubMed Mentions:
7 Fields:
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HumansAnimalsCTClinical Trials
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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.
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PubMed Mentions:
2 Fields:
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Humans
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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.
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PubMed Mentions:
10 Fields:
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HumansAnimalsCells
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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.
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PubMed Mentions:
6 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
5 Fields:
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HumansAnimalsCells
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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.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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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.
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28 Fields:
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HumansCells
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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.
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PubMed Mentions:
6 Fields:
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HumansAnimalsCells
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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.
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37 Fields:
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HumansAnimalsCells
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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.
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PubMed Mentions:
23 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
5 Fields:
Translation:
HumansCells
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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.
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22 Fields:
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Humans
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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.
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PubMed Mentions:
24 Fields:
Translation:
HumansCells