Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells

por Mor-Shaked, Hagar, Eiges, Rachel
Publicado 2016

Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome

por Mor-Shaked, Hagar, Eiges, Rachel
Publicado 2018

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

por Dinur-Schejter, Yael, Zaidman, Irina, Mor-Shaked, Hagar, Stepensky, Polina
Publicado 2021

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

por Trefzer, Raphael, Elpeleg, Orly, Gabrusskaya, Tatyana, Stepensky, Polina, Mor-Shaked, Hagar, Grosse, Robert, Brandt, Dominique T.
Publicado 2021

A human case of GIMAP6 deficiency: a novel primary immune deficiency

por Shadur, Bella, Asherie, Nathalie, Kfir-Erenfeld, Shlomit, Dubnikov, Taly, NaserEddin, Adeeb, Schejter, Yael Dinur, Elpeleg, Orly, Mor-Shaked, Hagar, Stepensky, Polina
Publicado 2020

A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay

por Mo, Alisa, Paz‐Ebstein, Emuna, Yanovsky‐Dagan, Shira, Lai, Abbe, Mor‐Shaked, Hagar, Gilboa, Tal, Yang, Edward, Shao, Diane D., Walsh, Christopher A., Harel, Tamar
Publicado 2023

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

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

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation

por O’Neill, Audrey G., Burrell, Anika L., Zech, Michael, Elpeleg, Orly, Harel, Tamar, Edvardson, Simon, Mor-Shaked, Hagar, Rippert, Alyssa L., Nomakuchi, Tomoki, Izumi, Kosuke, Kollman, Justin M.
Publicado 2023

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

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

Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia

por Dinoi, Giorgia, Morin, Michael, Conte, Elena, Mor Shaked, Hagar, Coppola, Maria Antonietta, D’Adamo, Maria Cristina, Elpeleg, Orly, Liantonio, Antonella, Hartmann, Inbar, De Luca, Annamaria, Blunck, Rikard, Russo, Angelo, Imbrici, Paola
Publicado 2022

Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing

por Mor-Shaked, Hagar, Paz-Ebstein, Emuna, Basal, Adily, Ben-Haim, Simona, Grobe, Hanna, Heymann, Sami, Israel, Zvi, Namnah, Montaser, Nitzan, Anat, Rosenbluh, Chaggai, Saada, Ann, Tzur, Tomer, Yanovsky-Dagan, Shira, Zaidel-Bar, Ronen, Harel, Tamar, Arkadir, David
Publicado 2021

A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System

por Confino, Shir, Dor, Talya, Tovin, Adi, Wexler, Yair, Ben-Moshe Livne, Zohar, Kolker, Michaela, Pisanty, Odelia, Park, Sohyun Kathy, Geyer, Nathalie, Reiter, Joel, Edvardson, Shimon, Mor-Shaked, Hagar, Elpeleg, Orly, Vallone, Daniela, Appelbaum, Lior, Foulkes, Nicholas S., Gothilf, Yoav
Publicado 2022

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

por Engal, Eden, Oja, Kaisa Teele, Maroofian, Reza, Geminder, Ophir, Le, Thuy-Linh, Mor, Evyatar, Tzvi, Naama, Elefant, Naama, Zaki, Maha S., Gleeson, Joseph G., Muru, Kai, Pajusalu, Sander, Wojcik, Monica H., Pachat, Divya, Elmaksoud, Marwa Abd, Jeong, Won Chan, Lee, Hane, Bauer, Peter, Zifarelli, Giovanni, Houlden, Henry, Elpeleg, Orly, Gordon, Chris, Harel, Tamar, Õunap, Katrin, Salton, Maayan, Mor-Shaked, Hagar
Publicado 2023

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

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