Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
Grigelioniene, Giedre, Suzuki, Hiroshi I., Taylan, Fulya, Mirzamohammadi, Fatemeh, Borochowitz, Zvi U., Ayturk, Ugur M., Tzur, Shay, Horemuzova, Eva, Lindstrand, Anna, Weis, Mary Ann, Grigelionis, Gintautas, Hammarsjö, Anna, Marsk, Elin, Nordgren, Ann, Nordenskjöld, Magnus, Eyre, David R., Warman, Matthew L., Nishimura, Gen, Sharp, Phillip A., Kobayashi, Tatsuya
Published in Nature medicine (01.04.2019)
Published in Nature medicine (01.04.2019)
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Journal Article
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory
Meng, Linyan, Attali, Ruben, Talmy, Tomer, Regev, Yakir, Mizrahi, Niv, Smirin-Yosef, Pola, Vossaert, Liesbeth, Taborda, Christian, Santana, Michael, Machol, Ido, Xiao, Rui, Dai, Hongzheng, Eng, Christine, Xia, Fan, Tzur, Shay
Published in Genetics in medicine (01.06.2023)
Published in Genetics in medicine (01.06.2023)
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Journal Article
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C
Reinstein, Eyal, Gutierrez-Fernandez, Ana, Tzur, Shay, Bormans, Concetta, Marcu, Shai, Tayeb-Fligelman, Einav, Vinkler, Chana, Raas-Rothschild, Annick, Irge, Dana, Landau, Meytal, Shohat, Mordechai, Puente, Xose S, Behar, Doron M, Lopez-Otın, Carlos
Published in European journal of human genetics : EJHG (01.12.2016)
Published in European journal of human genetics : EJHG (01.12.2016)
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Journal Article
Possible incipient sympatric ecological speciation in blind mole rats (Spalax)
Hadid, Yarin, Tzur, Shay, Pavlíček, Tomáš, Šumbera, Radim, Šklíba, Jan, Lövy, Matěj, Fragman-Sapir, Ori, Beiles, Avigdor, Arieli, Ran, Raz, Shmuel, Nevo, Eviatar
Published in Proceedings of the National Academy of Sciences - PNAS (12.02.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (12.02.2013)
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Journal Article
Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency
Behar, Doron M., Basel-Vanagaite, Lina, Glaser, Fabian, Kaplan, Marielle, Tzur, Shay, Magal, Nurit, Eidlitz-Markus, Tal, Haimi-Cohen, Yishay, Sarig, Galit, Bormans, Concetta, Shohat, Mordechai, Zeharia, Avraham
Published in Journal of lipid research (01.02.2014)
Published in Journal of lipid research (01.02.2014)
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Journal Article
Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers
Quintana-Murci, Lluís, Quach, Hélène, Harmant, Christine, Luca, Francesca, Massonnet, Blandine, Patin, Etienne, Sica, Lucas, Mouguiama-Daouda, Patrick, Comas, David, Tzur, Shay, Balanovsky, Oleg, Kidd, Kenneth K, Kidd, Judith R, van der Veen, Lolke, Hombert, Jean-Marie, Gessain, Antoine, Verdu, Paul, Froment, Alain, Bahuchet, Serge, Heyer, Evelyne, Dausset, Jean, Salas, Antonio, Behar, Doron M
Published in Proceedings of the National Academy of Sciences - PNAS (05.02.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (05.02.2008)
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Journal Article
Population genetics of chronic kidney disease: the evolving story of APOL1
Wasser, Walter G, Tzur, Shay, Wolday, Dawit, Adu, Dwomoa, Baumstein, Donald, Rosset, Saharon, Skorecki, Karl
Published in Journal of nephrology (01.09.2012)
Published in Journal of nephrology (01.09.2012)
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Journal Article
Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora
Behar, Doron M, Metspalu, Ene, Kivisild, Toomas, Rosset, Saharon, Tzur, Shay, Hadid, Yarin, Yudkovsky, Guennady, Rosengarten, Dror, Pereira, Luisa, Amorim, Antonio, Kutuev, Ildus, Gurwitz, David, Bonne-Tamir, Batsheva, Villems, Richard, Skorecki, Karl
Published in PloS one (30.04.2008)
Published in PloS one (30.04.2008)
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Journal Article
The Genographic Project public participation mitochondrial DNA database
Behar, Doron M, Rosset, Saharon, Blue-Smith, Jason, Balanovsky, Oleg, Tzur, Shay, Comas, David, Mitchell, R John, Quintana-Murci, Lluis, Tyler-Smith, Chris, Wells, R Spencer
Published in PLoS genetics (01.06.2007)
Published in PLoS genetics (01.06.2007)
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Journal Article
Adaptation of pelage color and pigment variations in Israeli subterranean blind mole rats, Spalax ehrenbergi [corrected]
Singaravelan, Natarajan, Raz, Shmuel, Tzur, Shay, Belifante, Shirli, Pavlicek, Tomas, Beiles, Avigdor, Ito, Shosuke, Wakamatsu, Kazumasa, Nevo, Eviatar
Published in PloS one (25.07.2013)
Published in PloS one (25.07.2013)
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Journal Article
The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event
Behar, Doron M., Metspalu, Ene, Kivisild, Toomas, Achilli, Alessandro, Hadid, Yarin, Tzur, Shay, Pereira, Luisa, Amorim, Antonio, Quintana-Murci, Lluís, Majamaa, Kari, Herrnstadt, Corinna, Howell, Neil, Balanovsky, Oleg, Kutuev, Ildus, Pshenichnov, Andrey, Gurwitz, David, Bonne-Tamir, Batsheva, Torroni, Antonio, Villems, Richard, Skorecki, Karl
Published in American journal of human genetics (01.03.2006)
Published in American journal of human genetics (01.03.2006)
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Journal Article
Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations
Tzur, Shay, Wasser, Walter G, Rosset, Saharon, Skorecki, Karl
Published in BMC nephrology (31.10.2012)
Published in BMC nephrology (31.10.2012)
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Journal Article
Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency
de Vries, Liat, Behar, Doron M, Smirin-Yosef, Pola, Lagovsky, Irina, Tzur, Shay, Basel-Vanagaite, Lina
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
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Journal Article
Correction: The Genographic Project Public Participation Mitochondrial DNA Database
M. Behar, Doron, Rosset, Saharon, Blue-Smith, Jason, Balanovsky, Oleg, Tzur, Shay, Comas, David, Mitchell, R. John, Quintana-Murci, Lluis, Tyler-Smith, Chris, Wells, R. Spencer
Published in PLoS genetics (01.09.2007)
Published in PLoS genetics (01.09.2007)
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Journal Article
Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene
Tzur, Shay, Rosset, Saharon, Shemer, Revital, Yudkovsky, Guennady, Selig, Sara, Tarekegn, Ayele, Bekele, Endashaw, Bradman, Neil, Wasser, Walter G, Behar, Doron M, Skorecki, Karl
Published in Human genetics (01.09.2010)
Published in Human genetics (01.09.2010)
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Journal Article
APOL1 allelic variants are associated with lower age of dialysis initiation and thereby increased dialysis vintage in African and Hispanic Americans with non-diabetic end-stage kidney disease
TZUR, Shay, ROSSET, Saharon, SKORECKI, Karl, WASSER, Walter G
Published in Nephrology, dialysis, transplantation (01.04.2012)
Published in Nephrology, dialysis, transplantation (01.04.2012)
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Journal Article
Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa–Associated Disease
Demir, Korcan, Yıldız, Melek, Bahat, Hilla, Goldman, Michael, Hassan, Nisreen, Tzur, Shay, Ofir, Ayala, Magen, Daniella
Published in The journal of clinical endocrinology and metabolism (01.12.2017)
Published in The journal of clinical endocrinology and metabolism (01.12.2017)
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Journal Article
Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation
Shohet, Adi, Cohen, Lior, Haguel, Danielle, Mozer, Yael, Shomron, Noam, Tzur, Shay, Bazak, Lily, Basel Salmon, Lina, Krause, Irit
Published in European journal of human genetics : EJHG (01.02.2019)
Published in European journal of human genetics : EJHG (01.02.2019)
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