Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2
Gabai-Kapara, Efrat, Lahad, Amnon, Kaufman, Bella, Friedman, Eitan, Segev, Shlomo, Renbaum, Paul, Beeri, Rachel, Gal, Moran, Grinshpun-Cohen, Julia, Djemal, Karen, Mandell, Jessica B., Lee, Ming K., Beller, Uziel, Catane, Raphael, King, Mary-Claire, Levy-Lahad, Ephrat
Published in Proceedings of the National Academy of Sciences - PNAS (30.09.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (30.09.2014)
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Journal Article
Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure
Tenenbaum-Rakover, Yardena, Weinberg-Shukron, Ariella, Renbaum, Paul, Lobel, Orit, Eideh, Hasan, Gulsuner, Suleyman, Dahary, Dvir, Abu-Rayyan, Amal, Kanaan, Moien, Levy-Lahad, Ephrat, Bercovich, Dani, Zangen, David
Published in Journal of medical genetics (01.06.2015)
Published in Journal of medical genetics (01.06.2015)
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Journal Article
Cold‐sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippase
Okai, Haruka, Ikema, Ryoko, Nakamura, Hiroki, Kato, Mei, Araki, Misako, Mizuno, Ayumi, Ikeda, Atsuko, Renbaum, Paul, Segel, Reeval, Funato, Kouichi
Published in FEBS letters (01.08.2020)
Published in FEBS letters (01.08.2020)
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Journal Article
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis
Weinberg-Shukron, Ariella, Renbaum, Paul, Kalifa, Rachel, Zeligson, Sharon, Ben-Neriah, Ziva, Dreifuss, Amatzia, Abu-Rayyan, Amal, Maatuk, Noa, Fardian, Nilly, Rekler, Dina, Kanaan, Moien, Samson, Abraham O, Levy-Lahad, Ephrat, Gerlitz, Offer, Zangen, David
Published in The Journal of clinical investigation (01.11.2015)
Published in The Journal of clinical investigation (01.11.2015)
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Journal Article
TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair
Gazy, Inbal, Zeevi, David A, Renbaum, Paul, Zeligson, Sharon, Eini, Lital, Bashari, Dana, Smith, Yoav, Lahad, Amnon, Goldberg, Michal, Ginsberg, Doron, Levy-Lahad, Ephrat
Published in PloS one (31.07.2015)
Published in PloS one (31.07.2015)
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Journal Article
Using multi-scale genomics to associate poorly annotated genes with rare diseases
Canavati, Christina, Sherill-Rofe, Dana, Kamal, Lara, Bloch, Idit, Zahdeh, Fouad, Sharon, Elad, Terespolsky, Batel, Allan, Islam Abu, Rabie, Grace, Kawas, Mariana, Kassem, Hanin, Avraham, Karen B, Renbaum, Paul, Levy-Lahad, Ephrat, Kanaan, Moien, Tabach, Yuval
Published in Genome medicine (04.01.2024)
Published in Genome medicine (04.01.2024)
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Journal Article
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1 -deficient patients
Di Donfrancesco, Alessia, Berlingieri, Christian, Giacomello, Marta, Frascarelli, Chiara, Magalhaes Rebelo, Ana Paula, Bindoff, Laurence A, Reeval, Segel, Renbaum, Paul, Santorelli, Filippo M, Massaro, Giulia, Viscomi, Carlo, Zeviani, Massimo, Ghezzi, Daniele, Bottani, Emanuela, Brunetti, Dario
Published in Frontiers in pharmacology (26.07.2023)
Published in Frontiers in pharmacology (26.07.2023)
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Journal Article
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection
Aran, Adi, Rosenfeld, Nuphar, Jaron, Ranit, Renbaum, Paul, Zuckerman, Shachar, Fridman, Hila, Zeligson, Sharon, Segel, Reeval, Kohn, Yoav, Kamal, Lara, Kanaan, Moien, Segev, Yoram, Mazaki, Eyal, Rabinowitz, Ron, Shen, Ori, Lee, Ming, Walsh, Tom, King, Mary Claire, Gulsuner, Suleyman, Levy-Lahad, Ephrat
Published in Neurology (24.05.2016)
Published in Neurology (24.05.2016)
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Journal Article
Testicular differentiation factor SF-1 is required for human spleen development
Zangen, David, Kaufman, Yotam, Banne, Ehud, Weinberg-Shukron, Ariella, Abulibdeh, Abdulsalam, Garfinkel, Benjamin P, Dweik, Dima, Kanaan, Moein, Camats, Núria, Flück, Christa, Renbaum, Paul, Levy-Lahad, Ephrat
Published in The Journal of clinical investigation (01.05.2014)
Published in The Journal of clinical investigation (01.05.2014)
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Journal Article
FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells
Avitzour, Michal, Mor-Shaked, Hagar, Yanovsky-Dagan, Shira, Aharoni, Shira, Altarescu, Gheona, Renbaum, Paul, Eldar-Geva, Talia, Schonberger, Oshrat, Levy-Lahad, Ephrat, Epsztejn-Litman, Silvina, Eiges, Rachel
Published in Stem cell reports (11.11.2014)
Published in Stem cell reports (11.11.2014)
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Journal Article
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures
Segel, Reeval, Aran, Adi, Gulsuner, Suleyman, Nakamura, Hiroki, Rosen, Tzvia, Walsh, Tom, Denda, Hiroto, Zeligson, Sharon, Eto, Katsuki, Beeri, Rachel, Okai, Haruka, King, Mary-Claire, Levy-Lahad, Ephrat, Funato, Kouichi, Renbaum, Paul
Published in Neurogenetics (01.10.2020)
Published in Neurogenetics (01.10.2020)
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Journal Article
Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells
Yanovsky-Dagan, Shira, Avitzour, Michal, Altarescu, Gheona, Renbaum, Paul, Eldar-Geva, Talia, Schonberger, Oshrat, Mitrani-Rosenbaum, Stella, Levy-Lahad, Ephrat, Birnbaum, Ramon Y., Gepstein, Lior, Epsztejn-Litman, Silvina, Eiges, Rachel
Published in Stem cell reports (11.08.2015)
Published in Stem cell reports (11.08.2015)
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Journal Article
Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis
Epsztejn-Litman, Silvina, Cohen-Hadad, Yaara, Aharoni, Shira, Altarescu, Gheona, Renbaum, Paul, Levy-Lahad, Ephrat, Schonberger, Oshrat, Eldar-Geva, Talia, Zeligson, Sharon, Eiges, Rachel
Published in PloS one (16.10.2015)
Published in PloS one (16.10.2015)
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Journal Article
Heme Oxygenase-1 Promoter Polymorphisms and Neonatal Jaundice
Kaplan, Michael, Renbaum, Paul, Hammerman, Cathy, Vreman, Hendrik J., Wong, Ronald J., Stevenson, David K.
Published in Neonatology (Basel, Switzerland) (01.01.2014)
Published in Neonatology (Basel, Switzerland) (01.01.2014)
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Journal Article
Gilbert Syndrome and Glucose-6-Phosphate Dehydrogenase Deficiency: A Dose-Dependent Genetic Interaction Crucial to Neonatal Hyperbilirubinemia
Kaplan, M, Renbaum, P, Levy-Lahad, E, Hammerman, C, Lahad, A, Beutler, E
Published in Proceedings of the National Academy of Sciences - PNAS (28.10.1997)
Published in Proceedings of the National Academy of Sciences - PNAS (28.10.1997)
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Journal Article
p53-dependent control of transactivation of the Pen2 promoter by presenilins
Dunys, Julie, Sevalle, Jean, Giaime, Emilie, Pardossi-Piquard, Raphaëlle, Vitek, Michael P, Renbaum, Paul, Levy-Lahad, Ephrat, Zhang, Yun-wu, Xu, Huaxi, Checler, Frédéric, da Costa, Cristine Alves
Published in Journal of cell science (01.11.2009)
Published in Journal of cell science (01.11.2009)
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Journal Article
Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis
Altarescu, Gheona, Beeri, Rachel, Eiges, Rachel, Epsztejn-Litman, Silvina, Eldar-Geva, Talia, Elstein, Deborah, Zimran, Ari, Margalioth, Ehud J., Levy-Lahad, Ephrat, Renbaum, Paul
Published in Molecular Biology International (01.01.2012)
Published in Molecular Biology International (01.01.2012)
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Journal Article