Not logged inDeciphering a mechanistic basis for the pathological effect of the GNAO1 E246K variant in neurodevelopmental disorder
Sadiya, Isra; Nekrasova, Irina; Avital-Shacham, Meirav; van Wijk, Naomi; Zohar, Keren; Kalisman, Nir; Shneidman-Duhovny, Dina; Banne, Ehud; Nissenkorn, Andreea; Blumkin, Lubov; Linial, Michal; Kosloff, Mickey .png)
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SaveShare Save Share Save Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disabilitySabeh, Pascale; Dumas, Samantha A.; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J.; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Mouhoub, Tarik Ait; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A.; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M.; Lesieur-Sebellin, Marion; Baujat, Genevieve; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R.; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, Andre; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A.; Briere, Lauren C.; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E.; Banne, Ethud; Parker, J. Alex; Burnett, Barrington G.; Campeau, Philippe M. Share Save National Rapid Genome Sequencing in Neonatal Intensive CareMarom, Daphna; Mory, Adi; Reytan-Miron, Sivan; Amir, Yam; Kurolap, Alina; Cohen, Julia Grinshpun; Morhi, Yocheved; Smolkin, Tatiana; Cohen, Lior; Zangen, Shmuel; Shalata, Adel; Riskin, Arieh; Peleg, Amir; Lavie-Nevo, Karen; Mandel, Dror; Chervinsky, Elana; Fisch, Clari Felszer; Sheffer, Vered Fleisher; Falik-Zaccai, Tzipora C.; Rips, Jonathan; Shlomai, Noa Ofek; Friedman, Smadar Eventov; Shporen, Calanit Hershkovich; Ben-Yehoshua, Sagie Josefsberg; Simmonds, Aryeh; Yaacobi, Racheli Goldfarb; Bauer-Rusek, Sofia; Omari, Hussam; Weiss, Karin; Hochwald, Ori; Koifman, Arie; Globus, Omer; Batzir, Nurit Assia; Yaron, Naveh; Segel, Reeval; Morag, Iris; Reish, Orit; Eliyahu, Aviva; Leibovitch, Leah; Schwartz, Marina Eskin; Abramsky, Ramy; Hochberg, Amit; Oron, Anat; Banne, Ehud; Portnov, Igor; Samra, Nadra Nasser; Singer, Amihood; Feldman, Hagit Baris Share Save Share Save Clinical characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618Arg RET mutation in an Israeli multicenter studyRosenblum, Rachel Chava; Hirsch, Dania; Grozinsky-Glasberg, Simona; Benbassat, Carlos; Yoel, Uri; Ishay, Avraham; Zolotov, Sagit; Bachar, Gideon; Banne, Ehud; Levy, Sigal; Twito, Orit Share Save Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects (vol 14, 3403, 2023)Ayers, Katie L.; Eggers, Stefanie; Rollo, Ben N.; Smith, Katherine R.; Davidson, Nadia M.; Siddall, Nicole A.; Zhao, Liang; Bowles, Josephine; Weiss, Karin; Zanni, Ginevra; Burglen, Lydie; Ben-Shachar, Shay; Rosensaft, Jenny; Raas-Rothschild, Annick; Jorgensen, Anne; Schittenhelm, Ralf B.; Huang, Cheng; Robevska, Gorjana; van den Bergen, Jocelyn; Casagranda, Franca; Cyza, Justyna; Pachernegg, Svenja; Wright, David K.; Bahlo, Melanie; Oshlack, Alicia; O'Brien, Terrence J.; Kwan, Patrick; Koopman, Peter; Hime, Gary R.; Girard, Nadine; Hoffmann, Chen; Shilon, Yuval; Zung, Amnon; Bertini, Enrico; Milh, Mathieu; Ben Rhouma, Bochra; Belguith, Neila; Bashamboo, Anu; McElreavey, Kenneth; Banne, Ehud; Weintrob, Naomi; BenZeev, Bruria; Sinclair, Andrew H. Share Save Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsAyers, Katie L.; Eggers, Stefanie; Rollo, Ben N.; Smith, Katherine R.; Davidson, Nadia M.; Siddall, Nicole A.; Zhao, Liang; Bowles, Josephine; Weiss, Karin; Zanni, Ginevra; Burglen, Lydie; Ben-Shachar, Shay; Rosensaft, Jenny; Raas-Rothschild, Annick; Jorgensen, Anne; Schittenhelm, Ralf B.; Huang, Cheng; Robevska, Gorjana; van den Bergen, Jocelyn; Casagranda, Franca; Cyza, Justyna; Pachernegg, Svenja; Wright, David K.; Bahlo, Melanie; Oshlack, Alicia; O'Brien, Terrence J.; Kwan, Patrick; Koopman, Peter; Hime, Gary R.; Girard, Nadine; Hoffmann, Chen; Shilon, Yuval; Zung, Amnon; Bertini, Enrico; Milh, Mathieu; Ben Rhouma, Bochra; Belguith, Neila; Bashamboo, Anu; MacElreavey, Kenneth; Banne, Ehud; Weintrob, Naomi; BenZeev, Bruria; Sinclair, Andrew H. Share Save Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndromeTessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs Share Save The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in IsraelKristal, Eyal; Pode-Shakked, Ben; Hazan, Guy; Banne, Ehud; Ling, Galina; David, Odeya; Shany, Eilon; Raas-Rothschild, Annick; Anikster, Yair; Kneller, Katya; Hershkovitz, Eli; Landau, Yuval E.; Spiegel, Ronen; Zehavi, Yoav; Staretz-Chacham, Orna Share Save Modeling genetic epileptic encephalopathies using brain organoidsSteinberg, Daniel J.; Repudi, Srinivasarao; Saleem, Afifa; Kustanovich, Irina; Viukov, Sergey; Abudiab, Baraa; Banne, Ehud; Mahajnah, Muhammad; Hanna, Jacob H.; Stern, Shani; Carlen, Peter L.; Aqeilan, Rami, I Share Save Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive OverviewBanne, Ehud; Abudiab, Baraa; Abu-Swai, Sara; Repudi, Srinivasa Rao; Steinberg, Daniel J.; Shatleh, Diala; Alshammery, Sarah; Lisowski, Leszek; Gold, Wendy; Carlen, Peter L.; Aqeilan, Rami I. Share Save Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndromeCarbonell, Abigail U.; Cho, Chang Hoon; Tindi, Jaafar O.; Counts, Pamela A.; Bates, Juliana C.; Erdjument-Bromage, Hediye; Cvejic, Svetlana; Laboni, Alana; Kvint, Ifat; Rosensaft, Jenny; Banne, Ehud; Anagnostou, Evdokia; Neubert, Thomas A.; Scherer, Stephen W.; Molholm, Sophie; Jordan, Bryen A. Share Save Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic AnomaliesSagi-Dain, Lena; Maya, Idit; Reches, Adi; Frumkin, Ayala; Grinshpun-Cohen, Julia; Segel, Reeval; Manor, Esther; Khayat, Morad; Tenne, Tamar; Banne, Ehud; Shalata, Adel; Yonath, Hagith; Berger, Racheli; Singer, Amihood; Ben-Shachar, Shay Share Save Share Save De novo mutations in GRIN1 cause extensive bilateral polymicrogyriaFry, Andrew E.; Fawcett, Katherine A.; Zelnik, Nathanel; Yuan, Hongjie; Thompson, Belinda A. N.; Shemer-Meiri, Lilach; Cushion, Thomas D.; Mugalaasi, Hood; Sims, David; Stoodley, Neil; Chung, Seo-Kyung; Rees, Mark I.; Patel, Chirag V.; Brueton, Louise A.; Layet, Valerie; Giuliano, Fabienne; Kerr, Michael P.; Banne, Ehud; Meiner, Vardiella; Lerman-Sagie, Tally; Helbig, Katherine L.; Kofman, Laura H.; Knight, Kristin M.; Chen, Wenjuan; Kannan, Varun; Hu, Chun; Kusumoto, Hirofumi; Zhang, Jin; Swanger, Sharon A.; Shaulsky, Gil H.; Mirzaa, Ghayda M.; Muir, Alison M.; Mefford, Heather C.; Dobyns, William B.; Mackenzie, Amanda B.; Mullins, Jonathan G. L.; Lemke, Johannes R.; Bahi-Buisson, Nadia; Traynelis, Stephen F.; Iago, Heledd F.; Pilz, Daniela T. Share Save Testicular differentiation factor SF-1 is required for human spleen developmentZangen, David; Kaufman, Yotam; Banne, Ehud; Weinberg-Shukron, Ariella; Abulibdeh, Abdulsalam; Garfinkel, Benjamin P.; Dweik, Dima; Kanaan, Moein; Camats, Nuria; Flueck, Christa; Renbaum, Paul; Levy-Lahad, Ephrat Share Save Share Save 
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