Cone-rod dystrophy and a frameshift mutation in the PROM1 gene

por Pras, Eran, Abu, Almogit, Rotenstreich, Ygal, Avni, Isaac, Reish, Orit, Morad, Yair, Reznik-Wolf, Haike, Pras, Elon
Publicado 2009

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10‐year period

por Eyal, Ori, Berkenstadt, Michal, Reznik‐Wolf, Haike, Poran, Hana, Ziv‐Baran, Tomer, Greenbaum, Lior, Yonath, Hagit, Pras, Elon
Publicado 2019

Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients

por Pras, Eran, Pras, Elon, Reznik-Wolf, Haike, Sharon, Dror, Raivech, Svetlana, Barkana, Yaniv, Abu-Horowitz, Almogit, Ygal, Rotenstreich, Banin, Eyal
Publicado 2012

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing

por Gal, Moran, Khermesh, Khen, Barak, Michal, Lin, Min, Lahat, Hadas, Reznik Wolf, Haike, Lin, Michael, Pras, Elon, Levanon, Erez Y.
Publicado 2016

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population

por Greenbaum, Lior, Ben‐David, Merav, Nikitin, Vera, Gera, Orna, Barel, Ortal, Hersalis‐Eldar, Adi, Shamash, Jana, Shimshoviz, Noam, Reznik‐Wolf, Haike, Shohat, Mordechai, Dominissini, Dan, Pras, Elon, Dori, Amir
Publicado 2021

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

por Greenbaum, Lior, Pode-Shakked, Ben, Eisenberg-Barzilai, Shlomit, Dicastro-Keidar, Michal, Bar-Ziv, Anat, Goldstein, Nurit, Reznik-Wolf, Haike, Poran, Hana, Rigbi, Amihai, Barel, Ortal, Bertoli-Avella, Aida M., Bauer, Peter, Regev, Miriam, Raas-Rothschild, Annick, Pras, Elon, Berkenstadt, Michal
Publicado 2019

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects

por Simon, Amos J., Lev, Atar, Zhang, Yong, Weiss, Batia, Rylova, Anna, Eyal, Eran, Kol, Nitzan, Barel, Ortal, Cesarkas, Keren, Soudack, Michalle, Greenberg-Kushnir, Noa, Rhodes, Michele, Wiest, David L., Schiby, Ginette, Barshack, Iris, Katz, Shulamit, Pras, Elon, Poran, Hana, Reznik-Wolf, Haike, Ribakovsky, Elena, Simon, Carlos, Hazou, Wadi, Sidi, Yechezkel, Lahad, Avishay, Katzir, Hagar, Sagie, Shira, Aqeilan, Haifa A., Glousker, Galina, Amariglio, Ninette, Tzfati, Yehuda, Selig, Sara, Rechavi, Gideon, Somech, Raz
Publicado 2016

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

por Pode-Shakked, Ben, 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
Publicado 2021

Noncoding Deletions Expose a Novel Gene Critical for Intestinal Function

por Oz-Levi, Danit, Olender, Tsviya, Bar-Joseph, Ifat, Zhu, Yiwen, Marek-Yagel, Dina, Barozzi, Iros, Osterwalder, Marco, Alkelai, Anna, Ruzzo, Elizabeth K., Han, Yujun, Vos, Erica S. M., Reznik-Wolf, Haike, Hartman, Corina, Shamir, Raanan, Weiss, Batia, Shapiro, Rivka, Pode-Shakked, Ben, Tatarskyy, Pavlo, Milgrom, Roni, Schvimer, Michael, Barshack, Iris, Imai, Denise M., Coleman-Derr, Devin, Dickel, Diane E., Nord, Alex S., Afzal, Veena, van Bueren, Kelly Lammerts, Barnes, Ralston M., Black, Brian L., Mayhew, Christopher N., Kuhar, Matthew F., Pitstick, Amy, Tekman, Mehmet, Stanescu, Horia C., Wells, James M., Kleta, Robert, de Laat, Wouter, Goldstein, David B., Pras, Elon, Visel, Axel, Lancet, Doron, Anikster, Yair, Pennacchio, Len A.
Publicado 2019