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Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations Nagy, Sara; Pagnamenta, Alistair T.; Cali, Elisa; Braakman, Hilde M. H.; Wijntjes, Juerd; Kusters, Benno; Gotkine, Marc; Elpeleg, Orly; Meiner, Vardiella; Lenberg, Jerica; Wigby, Kristen; Friedman, Jennifer; Perry, Luke D.; Rossor, Alexander M.; Meszarosova, Anna Uhrova; Thomasova, Dana; Jacob, Saiju; O'Driscoll, Mary; De Simone, Lenika; Grange, Dorothy K.; Sommerville, Richard; Firoozfar, Zahra; Alavi, Shahryar; Mazaheri, Mahta; Parmar, Jevin M.; Lamont, Phillipa J.; Pini, Veronica; Sarkozy, Anna; Muntoni, Francesco; Ravenscroft, Gianina; Jones, Eppie; O'Rourke, Declan; Nel, Melissa; Heckmann, Jeannine M.; Kvalsund, Michelle; Kapapa, Musambo M.; Somwe, Somwe Wa; Bearden, David R.; Cakar, Arman; Childs, Anne-Marie; Horvath, Rita; Reilly, Mary M.; Houlden, Henry; Maroofian, Reza 分享 收藏
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features Harel, Tamar; Spicher, Camille; Scheer, Elisabeth; Buchan, Jillian G.; Cech, Jennifer; Folland, Chiara; Frey, Tanja; Holtz, Alexander M.; Innes, A. Micheil; Keren, Boris; Macken, William L.; Marcelis, Carlo; Otten, Catherine E.; Paolucci, Sarah A.; Petit, Florence; Pfundt, Rolph; Pitceathly, Robert D. S.; Rauch, Anita; Ravenscroft, Gianina; Sanchev, Rani; Steindl, Katharina; Tammer, Femke; Tyndall, Amanda; Devys, Didier; Vincent, Stephane D.; Elpeleg, Orly; Tora, Laszlo 分享 收藏
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield Rips, Jonathan; Halstuk, Orli; Fuchs, Adina; Lang, Ziv; Sido, Tal; Gershon-Naamat, Shiri; Abu-Libdeh, Bassam; Edvardson, Simon; Salah, Somaya; Breuer, Oded; Hadhud, Mohamad; Eden, Sharon; Simon, Itamar; Slae, Mordechai; Damseh, Nadirah S.; Abu-Libdeh, Abdulsalam; Eskin-Schwartz, Marina; Birk, Ohad S.; Varga, Julia; Schueler-Furman, Ora; Rosenbluh, Chaggai; Elpeleg, Orly; Yanovsky-Dagan, Shira; Mor-Shaked, Hagar; Harel, Tamar 分享 收藏
Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondria Al Rawi, Sara; Simpson, Lorna; Agnarsdottir, Guorun; Mcdonald, Neil Q.; Chernuha, Veronika; Elpeleg, Orly; Zeviani, Massimo; Barker, Roger A.; Spiegel, Ronen; Laman, Heike 分享 收藏
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses Ung, Devina C.; Pietrancosta, Nicolas; Badillo, Elena Baz; Raux, Brigitt; Tapken, Daniel; Zlatanovic, Andjela; Doridant, Adrien; Pode-Shakked, Ben; Raas-Rothschild, Annick; Elpeleg, Orly; Abu-Libdeh, Bassam; Hamed, Nasrin; Papon, Marie-Amelie; Marouillat, Sylviane; Thepault, Rose-Anne; Stevanin, Giovanni; Elegheert, Jonathan; Letellier, Mathieu; Hollmann, Michael; Lambolez, Bertrand; Tricoire, Ludovic; Toutain, Annick; Hepp, Regine; Laumonnier, Frederic 分享 收藏
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy Abela, Lucia; Gianfrancesco, Lorita; Tagliatti, Erica; Rossignoli, Giada; Barwick, Katy; Zourray, Clara; Reid, Kimberley M.; Budinger, Dimitri; Ng, Joanne; Counsell, John; Simpson, Arlo; Pearson, Toni S.; Edvardson, Simon; Elpeleg, Orly; Brodsky, Frances M.; Lignani, Gabriele; Barral, Serena; Kurian, Manju A. 分享 收藏
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK Keller, Baerbel; Kfir-Erenfeld, Shlomit; Matusewicz, Paul; Hartl, Frederike; Lev, Atar; Lee, Yu Nee; Simon, Amos J.; Stauber, Tali; Elpeleg, Orly; Somech, Raz; Stepensky, Polina; Minguet, Susana; Schraven, Burkhart; Warnatz, Klaus 分享 收藏
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome Engal, Eden; Oja, Kaisa Teele; Maroofian, Reza; Geminder, Ophir; Le, Thuy-Linh; Marzin, Pauline; Guimier, Anne; Mor, Evyatar; Zvi, 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; Daana, Muhannad; Elpeleg, Orly; Amiel, Jeanne; Lyonnet, Stanislas; Gordon, Christopher T.; Harel, Tamar; Ounap, Katrin; Salton, Maayan; Mor-Shaked, Hagar 分享 收藏
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews Birnbaum, Rivka; Ezer, Shlomit; Lotan, Nava Shaul; Eilat, Avital; Sternlicht, Keren; Benyamini, Lilach; Reish, Orit; Falik-Zaccai, Tzipora; Ben-Gad, Gali; Rod, Raya; Segel, Reeval; Kim, Katherine; Burton, Barabra; Keegan, Catherine E.; Wagner, Mallory; Henderson, Lindsay B.; Mor, Nofar; Barel, Ortal; Hirsch, Yoel; Meiner, Vardiella; Elpeleg, Orly; Harel, Tamar; Mor-Shakad, Hagar 分享 收藏
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment Lin, Xiaolin; Wang, Wei; Yang, Mingyi; Damseh, Nadirah; de Sousa, Mirta Mittelstedt Leal; Jacob, Fadi; Lang, Anna; Kristiansen, Elise; Pannone, Marco; Kissova, Miroslava; Almaas, Runar; Kusnierczyk, Anna; Siller, Richard; Shahrour, Maher; Al-Ashhab, Motee; Abu-Libdeh, Bassam; Tang, Wannan; Slupphaug, Geir; Elpeleg, Orly; Boe, Stig Ove; Eide, Lars; Sullivan, Gareth J.; Rinholm, Johanne Egge; Song, Hongjun; Ming, Guo-li; van Loon, Barbara; Edvardson, Simon; Ye, Jing; Bjoras, Magnar 分享 收藏
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy von Wintzingerode, Lydia; Ben-Zeev, Bruria; Cesario, Claudia; Chan, Katie M.; Depienne, Christel; Elpeleg, Orly; Iascone, Maria; V. Kelley, Whitley; Nassogne, Marie-Cecile; Niceta, Marcello; Pezzani, Lidia; Rahner, Nils; Revencu, Nicole; Bekheirnia, Mir Reza; Santiago-Sim, Teresa; Tartaglia, Marco; Thompson, Michelle L.; Trivisano, Marina; Hentschel, Julia; Sticht, Heinrich; Abou Jamra, Rami; Oppermann, Henry 分享 收藏
Nociception and pain in humans lacking a functional TRPV1 channel Katz, Ben; Zaguri, Rachel; Edvardson, Simon; Maayan, Channa; Elpeleg, Orly; Lev, Shaya; Davidson, Elyad; Peters, Maximilian; Kfir-Erenfeld, Shlomit; Berger, Esther; Ghazalin, Shifa; Binshtok, Alexander M.; Minke, Baruch 分享 收藏
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder Maroofian, Reza; Efthymiou, Stephanie; Suri, Mohnish; Rahman, Fatima; Zaki, Maha S.; Maqbool, Shazia; Anwa, Najwa; Ruiz-Perez, Victor L.; Yanovsky-Dagan, Shira; Elpeleg, Orly; Sudhakar, Sniya; Mankad, Kshitij; Harel, Tamar; Houlden, Henry 分享 收藏
Exome sequencing for structurally normal fetuses-yields and ethical issues Daum, Hagit; Harel, Tamar; Millo, Talya; Eilat, Avital; Fahham, Duha; Gershon-Naamat, Shiri; Basal, Adily; Rosenbluh, Chaggai; Yanai, Nili; Porat, Shay; Kabiri, Doron; Yagel, Simcha; Valsky, Dan V.; Elpeleg, Orly; Meiner, Vardiella; Mor-Shaked, Hagar 分享 收藏
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Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity 神经元细胞粘附分子中的双等位基因变体会导致神经发育障碍，其特征是发育迟缓，肌张力低下，神经病/痉挛 Kurolap, Alina; Kreuder, Florian; Gonzaga-Jauregui, Claudia; Duvdevani, Morasha Plesser; Harel, Tamar; Tammer, Luna; Xin, Baozhong; Bakhtiari, Somayeh; Rice, James; van Eyk, Clare L.; Gecz, Jozef; Mah, Jean K.; Atkinson, Derek; Cope, Heidi; Sullivan, Jennifer A.; Douek, Alon M.; Colquhoun, Daniel; Henry, Jason; Wlodkowic, Donald; Parman, Yesim; Candayan, Ayse; Kocasoy-Orhan, Elif; Ilivitzki, Anat; Soudry, Shiri; Leibu, Rina; Glaser, Fabian; Sency, Valerie; Ast, Gil; Shashi, Vandana; Fahey, Michael C.; Battalog, Esra; Jordanova, Albena; Meiner, Vardiella; Innes, A. Micheil; Wang, Heng; Elpeleg, Orly; Kruer, Michael C.; Kaslin, Jan; Feldman, Hagit Baris 分享 收藏
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