Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

Por Belostotsky, Ruth, Ben-Shalom, Efrat, Rinat, Choni, Becker-Cohen, Rachel, Feinstein, Sofia, Zeligson, Sharon, Segel, Reeval, Elpeleg, Orly, Nassar, Suheir, Frishberg, Yaacov
Publicado em 2011

TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair

Por Gazy, Inbal, Zeevi, David A., Renbaum, Paul, Zeligson, Sharon, Eini, Lital, Bashari, Dana, Smith, Yoav, Lahad, Amnon, Goldberg, Michal, Ginsberg, Doron, Levy-Lahad, Ephrat
Publicado no PLoS One (2015)

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis

Por Epsztejn-Litman, Silvina, Cohen-Hadad, Yaara, Aharoni, Shira, Altarescu, Gheona, Renbaum, Paul, Levy-Lahad, Ephrat, Schonberger, Oshrat, Eldar-Geva, Talia, Zeligson, Sharon, Eiges, Rachel
Publicado no PLoS One (2015)

Snord 3A: A Molecular Marker and Modulator of Prion Disease Progression

Por Cohen, Eran, Avrahami, Dana, Frid, Kati, Canello, Tamar, Levy Lahad, Ephrat, Zeligson, Sharon, Perlberg, Shira, Chapman, Joab, Cohen, Oren S., Kahana, Esther, Lavon, Iris, Gabizon, Ruth
Publicado em 2013

XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription

Por Zangen, David, Kaufman, Yotam, Zeligson, Sharon, Perlberg, Shira, Fridman, Hila, Kanaan, Moein, Abdulhadi-Atwan, Maha, Abu Libdeh, Abdulsalam, Gussow, Ayal, Kisslov, Irit, Carmel, Liran, Renbaum, Paul, Levy-Lahad, Ephrat
Publicado em 2011

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria

Por Pierce, Sarah B., Spurrell, Cailyn H., Mandell, Jessica B., Lee, Ming K., Zeligson, Sharon, Bereman, Michael S., Stray, Sunday M., Fokstuen, Siv, MacCoss, Michael J., Levy-Lahad, Ephrat, King, Mary-Claire, Motulsky, Arno G.
Publicado em 2011

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

Por 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
Publicado no J Clin Invest (2015)

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome

Por Aran, Adi, Segel, Reeval, Kaneshige, Kota, Gulsuner, Suleyman, Renbaum, Paul, Oliphant, Scott, Meirson, Tomer, Weinberg-Shukron, Ariella, Hershkovitz, Yair, Zeligson, Sharon, Lee, Ming K., Samson, Abraham O., Parsons, Stanley M., King, Mary-Claire, Levy-Lahad, Ephrat, Walsh, Tom
Publicado no Neurology (2017)

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

Por 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
Publicado no Neurology (2016)