Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers

by Noam Domniz, Noam Domniz, Liat Ries-Levavi, Liat Ries-Levavi, Yoram Cohen, Yoram Cohen, Lilach Marom-Haham, Lilach Marom-Haham, Michal Berkenstadt, Michal Berkenstadt, Elon Pras, Elon Pras, Anne Glicksman, Nicole Tortora, Gary J. Latham, Andrew G. Hadd, Sarah L. Nolin, Shai E. Elizur, Shai E. Elizur
Published 2018-12-01

BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

by Naomi Pode‐Shakked, Ortal Barel, Ben Pode‐Shakked, Aviva Eliyahu, Amihood Singer, Omri Nayshool, Nitzan Kol, Annick Raas‐Rothschild, Elon Pras, Mordechai Shohat
Published 2019-06-01

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

by Lior Greenbaum, Lior Greenbaum, Lior Greenbaum, Ben Pode-Shakked, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik-Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli-Avella, Peter Bauer, Miriam Regev, Miriam Regev, Annick Raas-Rothschild, Annick Raas-Rothschild, Elon Pras, Elon Pras, Michal Berkenstadt, Michal Berkenstadt
Published 2019-06-01

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

by Lior Greenbaum, Merav Ben‐David, Vera Nikitin, Orna Gera, Ortal Barel, Adi Hersalis‐Eldar, Jana Shamash, Noam Shimshoviz, Haike Reznik‐Wolf, Mordechai Shohat, Dan Dominissini, Elon Pras, Amir Dori
Published 2021-06-01

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

by Ben Pode-Shakked, Ortal Barel, Amihood Singer, Miriam Regev, Hana Poran, Aviva Eliyahu, Yael Finezilber, Meirav Segev, Michal Berkenstadt, Hagith Yonath, Haike Reznik-Wolf, Yael Gazit, Odelia Chorin, Gali Heimer, Lidia V. Gabis, Michal Tzadok, Andreea Nissenkorn, Omer Bar-Yosef, Efrat Zohar-Dayan, Bruria Ben-Zeev, Nofar Mor, Nitzan Kol, Omri Nayshool, Noam Shimshoviz, Ifat Bar-Joseph, Dina Marek-Yagel, Elisheva Javasky, Reviva Einy, Moran Gal, Julia Grinshpun-Cohen, Mordechai Shohat, Dan Dominissini, Annick Raas-Rothschild, Gideon Rechavi, Elon Pras, Lior Greenbaum
Published 2021-09-01