Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers
Laitman, Yael, Michaelson‐Cohen, Rachel, Levi, Einat, Chen‐Shtoyerman, Rakefet, Reish, Orit, Josefsberg Ben‐Yehoshua, Sagi, Bernstein‐Molho, Rinat, Keinan‐Boker, Lital, Rosengarten, Ora, Silverman, Barbara G., Perri, Tamar, Korach, Jacob, Mor, Pnina, Ephrat Ben‐Baruch, Noa, Levy Lahad, Ephrat, Friedman, Eitan
Published in Cancer (01.03.2019)
Published in Cancer (01.03.2019)
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Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population
Rabin, Rachel, Hirsch, Yoel, Chung, Wendy K., Ekstein, Josef, Levy‐Lahad, Ephrat, Zuckerman, Shachar, Mor‐Shaked, Hagar, Meiner, Vardiella, Booth, Kevin T., Pappas, John
Published in American journal of medical genetics. Part A (01.10.2022)
Published in American journal of medical genetics. Part A (01.10.2022)
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The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1‐associated anauxetic dysplasia
Abdulhadi‐Atwan, Maha, Klopstock, Tehila, Sharaf, Muna, Weinberg‐Shukron, Ariella, Renbaum, Paul, Levy‐Lahad, Ephrat, Zangen, David
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
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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
Snord 3A: a molecular marker and modulator of prion disease progression
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
Published in PloS one (21.01.2013)
Published in PloS one (21.01.2013)
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Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy
Navon Elkan, Paulina, Pierce, Sarah B, Segel, Reeval, Walsh, Tom, Barash, Judith, Padeh, Shai, Zlotogorski, Abraham, Berkun, Yackov, Press, Joseph J, Mukamel, Masha, Voth, Isabel, Hashkes, Philip J, Harel, Liora, Hoffer, Vered, Ling, Eduard, Yalcinkaya, Fatos, Kasapcopur, Ozgur, Lee, Ming K, Klevit, Rachel E, Renbaum, Paul, Weinberg-Shukron, Ariella, Sener, Elif F, Schormair, Barbara, Zeligson, Sharon, Marek-Yagel, Dina, Strom, Tim M, Shohat, Mordechai, Singer, Amihood, Rubinow, Alan, Pras, Elon, Winkelmann, Juliane, Tekin, Mustafa, Anikster, Yair, King, Mary-Claire, Levy-Lahad, Ephrat
Published in The New England journal of medicine (06.03.2014)
Published in The New England journal of medicine (06.03.2014)
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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
Essential Role of BRCA2 in Ovarian Development and Function
Weinberg-Shukron, Ariella, Rachmiel, Mariana, Renbaum, Paul, Gulsuner, Suleyman, Walsh, Tom, Lobel, Orit, Dreifuss, Amatzia, Ben-Moshe, Avital, Zeligson, Sharon, Segel, Reeval, Shore, Tikva, Kalifa, Rachel, Goldberg, Michal, King, Mary-Claire, Gerlitz, Offer, Levy-Lahad, Ephrat, Zangen, David
Published in The New England journal of medicine (13.09.2018)
Published in The New England journal of medicine (13.09.2018)
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Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome
Pierce, Sarah B., Gersak, Ksenija, Michaelson-Cohen, Rachel, Walsh, Tom, Lee, Ming K., Malach, Daniel, Klevit, Rachel E., King, Mary-Claire, Levy-Lahad, Ephrat
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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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
Copy number variations in cryptogenic cerebral palsy
Segel, Reeval, Ben-Pazi, Hilla, Zeligson, Sharon, Fatal-Valevski, Aviva, Aran, Adi, Gross-Tsur, Varda, Schneebaum-Sender, Nira, Shmueli, Dorit, Lev, Dorit, Perlberg, Shira, Blumkin, Luba, Deutsch, Lisa, Levy-Lahad, Ephrat
Published in Neurology (21.04.2015)
Published in Neurology (21.04.2015)
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Journal Article
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy
Yechieli, Michal, Gulsuner, Suleyman, Ben-Pazi, Hilla, Fattal, Aviva, Aran, Adi, Kuzminsky, Alla, Sagi, Liora, Guttman, Dafna, Schneebaum Sender, Nira, Gross-Tsur, Varda, Klopstock, Tehila, Walsh, Tom, Renbaum, Paul, Zeligson, Sharon, Shemer Meiri, Lilach, Lev, Dorit, Shmueli, Dorit, Blumkin, Luba, Lahad, Amnon, King, Mary-Claire, Levy, Ephrat Lahad, Segel, Reeval
Published in Journal of medical genetics (01.08.2022)
Published in Journal of medical genetics (01.08.2022)
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BRCA mutational status shapes the stromal microenvironment of pancreatic cancer linking clusterin expression in cancer associated fibroblasts with HSF1 signaling
Shaashua, Lee, Ben-Shmuel, Aviad, Pevsner-Fischer, Meirav, Friedman, Gil, Levi-Galibov, Oshrat, Nandakumar, Subhiksha, Barki, Debra, Nevo, Reinat, Brown, Lauren E, Zhang, Wenhan, Stein, Yaniv, Lior, Chen, Kim, Han Sang, Bojmar, Linda, Jarnagin, William R, Lecomte, Nicolas, Mayer, Shimrit, Stok, Roni, Bishara, Hend, Hamodi, Rawand, Levy-Lahad, Ephrat, Golan, Talia, Porco, Jr, John A, Iacobuzio-Donahue, Christine A, Schultz, Nikolaus, Tuveson, David A, Lyden, David, Kelsen, David, Scherz-Shouval, Ruth
Published in Nature communications (31.10.2022)
Published in Nature communications (31.10.2022)
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Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
Pierce, Sarah B., Walsh, Tom, Chisholm, Karen M., Lee, Ming K., Thornton, Anne M., Fiumara, Agata, Opitz, John M., Levy-Lahad, Ephrat, Klevit, Rachel E., King, Mary-Claire
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
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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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Performance comparison: exome sequencing as a single test replacing Sanger sequencing
Fridman, Hila, Bormans, Concetta, Einhorn, Moshe, Au, Daniel, Bormans, Arjan, Porat, Yuval, Sanchez, Luisa Fernanda, Manning, Brent, Levy-Lahad, Ephrat, Behar, Doron M.
Published in Molecular genetics and genomics : MGG (01.05.2021)
Published in Molecular genetics and genomics : MGG (01.05.2021)
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