Not logged inA single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
Ben Pode-Shakked; Barel, Ortal; Singer, Amihood; Regev, Miriam; Poran, Hana; Eliyahu, Aviva; Finezilber, Yael; Segev, Meirav; Berkenstadt, Michal; Yonath, Hagith; Reznik-Wolf, Haike; Gazit, Yael; Chorin, Odelia; Heimer, Gali; Gabis, Lidia, V; Tzadok, Michal; Nissenkorn, Andreea; Bar-Yosef, Omer; Zohar-Dayan, Efrat; Ben-Zeev, Bruria; Mor, Nofar; Kol, Nitzan; Nayshool, Omri; Shimshoviz, Noam; Bar-Joseph, Ifat; Marek-Yagel, Dina; Javasky, Elisheva; Einy, Reviva; Gal, Moran; Grinshpun-Cohen, Julia; Shohat, Mordechai; Dominissini, Dan; Raas-Rothschild, Annick; Rechavi, Gideon; Pras, Elon; Greenbaum, Lior .png)
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SaveShare Save Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive courseEsposito, Alessandro; Falace, Antonio; Wagner, Matias; Gal, Moran; Mei, Davide; Conti, Valerio; Pisano, Tiziana; Aprile, Davide; Cerullo, Maria Sabina; De Fusco, Antonio; Giovedi, Silvia; Seibt, Annette; Magen, Daniella; Polster, Tilman; Eran, Ayelet; Stenton, Sarah L.; Fiorillo, Chiara; Ravid, Sarit; Mayatepek, Ertan; Hafner, Hava; Wortmann, Saskia; Levanon, Erez Y.; Marini, Carla; Mandel, Hanna; Benfenati, Fabio; Distelmaier, Felix; Fassio, Anna; Guerrini, Renzo Share Save Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disordersJacob-Hirsch, Jasmine; Eyal, Eran; Knisbacher, Binyamin A.; Roth, Jonathan; Cesarkas, Karen; Dor, Chen; Farage-Barhom, Sarit; Kunik, Vered; Simon, Amos J.; Gal, Moran; Yalon, Michal; Moshitch-Moshkovitz, Sharon; Tearle, Rick; Constantini, Shlomi; Levanon, Erez Y.; Amariglio, Ninette; Rechavi, Gideon Share Save Association between the Absolute Baseline Lymphocyte Count and Response to Neoadjuvant Platinum-based Chemotherapy in Muscle-invasive Bladder CancerLeibowitz-Amit, R.; Israel, A.; Gal, M.; Atenafu, E. A.; Symon, Z.; Portnoy, O.; Laufer, M.; Dotan, Z.; Ramon, J.; Avni, D.; Fridman, E.; Berger, R. Share Save Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2Gabai-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 Share Save Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 MutationsJohnston, Jennifer J.; Sapp, Julie C.; Turner, Joyce T.; Amor, David; Aftimos, Salim; Aleck, Kyrieckos A.; Bocian, Maureen; Bodurtha, Joann N.; Cox, Gerald F.; Curry, Cynthia J.; Day, Ruth; Donnai, Dian; Field, Michael; Fujiwara, Ikuma; Gabbett, Michael; Gal, Moran; Graham, John M., Jr.; Hedera, Peter; Hennekam, Raoul C. M.; Hersh, Joseph H.; Hopkin, Robert J.; Kayserili, Hulya; Kidd, Alexa M. J.; Kimonis, Virginia; Lin, Angela E.; Lynch, Sally Ann; Maisenbacher, Melissa; Mansour, Sahar; McGaughran, Julie; Mehta, Lakshmi; Murphy, Helen; Raygada, Margarita; Robin, Nathaniel H.; Rope, Alan F.; Rosenbaum, Kenneth N.; Schaefer, G. Bradley; Shealy, Amy; Smith, Wendy; Soller, Maria; Sommer, Annmarie; Stalker, Heather J.; Steiner, Bernhard; Stephan, Mark J.; Tilstra, David; Tomkins, Susan; Trapane, Pamela; Tsai, Anne Chun-Hui; Van Allen, Margot I.; Vasudevan, Pradeep C.; Zabel, Bernhard; Zunich, Janice; Black, Graeme C. M.; Biesecker, Leslie G. Share Save 
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