Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome

by Hagar Mor-Shaked, Hagar Mor-Shaked, Rachel Eiges, Rachel Eiges
Published 2018-02-01

Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells

by Hagar Mor-Shaked, Rachel Eiges
Published 2016-09-01

The Clinical Aspect of Adaptor Molecules in T Cell Signaling: Lessons Learnt From Inborn Errors of Immunity

by Yael Dinur-Schejter, Yael Dinur-Schejter, Yael Dinur-Schejter, Irina Zaidman, Irina Zaidman, Hagar Mor-Shaked, Hagar Mor-Shaked, Polina Stepensky, Polina Stepensky
Published 2021-08-01

Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease.

by Raphael Trefzer, Orly Elpeleg, Tatyana Gabrusskaya, Polina Stepensky, Hagar Mor-Shaked, Robert Grosse, Dominique T Brandt
Published 2021-01-01

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells

by Michal Avitzour, Hagar Mor-Shaked, Shira Yanovsky-Dagan, Shira Aharoni, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Oshrat Schonberger, Ephrat Levy-Lahad, Silvina Epsztejn-Litman, Rachel Eiges
Published 2014-11-01

Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia

by Alex Gileles-Hillel, Hagar Mor-Shaked, David Shoseyov, Joel Reiter, Reuven Tsabari, Avigdor Hevroni, Malena Cohen-Cymberknoh, Israel Amirav, Shuli Brammli-Greenberg, Amjad Horani, Eitan Kerem, Oded Breuer
Published 2020-12-01

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

by Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade
Published 2020-01-01