Not logged in CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (Vol 135, e200195, 2025) Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Grafe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Van Bon, Bregje W.; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-Alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marija; Mccabe, Brian D.; De Los Rios, Paolo; Hornemann, Thorsten; D'angelo, Giovanni; Gennarino, Vincenzo A. Share Save
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Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants Cuccurullo, Claudia; Irelli, Emanuele Cerulli; Ugga, Lorenzo; Riva, Antonella; D'Amico, Alessandra; Cabet, Sara; Lesca, Gaetan; Bilo, Leonilda; Zara, Federico; Iliescu, Catrinel; Barca, Diana; Fung, France; Helbig, Katherine; Ortiz-Gonzalez, Xilma; Schelhaas, Helenius J.; Willemsen, Marjolein H.; van der Linden, Inge; Canafoglia, Laura; Courage, Carolina; Gommaraschi, Samuele; Gonzalez-Alegre, Pedro; Bardakjian, Tanya; Syrbe, Steffen; Schuler, Elisabeth; Lemke, Johannes R.; Vari, Stella; Roende, Gitte; Bak, Mads; Huq, Mahbulul; Powis, Zoe; Johannesen, Katrine M.; Hammer, Trine Bjorg; Moller, Rikke S.; Rabin, Rachel; Pappas, John; Zupanc, Mary L.; Zadeh, Neda; Cohen, Julie; Naidu, Sakkubai; Krey, Ilona; Saneto, Russell; Thies, Jenny; Licchetta, Laura; Tinuper, Paolo; Bisulli, Francesca; Minardi, Raffaella; Bayat, Allan; Villeneuve, Nathalie; Molinari, Florence; Dafsari, Hormos Salimi; Moller, Birk; Le Roux, Marie; Houdayer, Clara; Vecchi, Marilena; Mammi, Isabella; Fiorini, Elena; Proietti, Jacopo; Ferri, Sofia; Cantalupo, Gaetano; Battaglia, Domenica Immacolata; Gambardella, Maria Luigia; Contaldo, Ilaria; Brogna, Claudia; Trivisano, Marina; De Dominicis, Angela; Bova, Stefania Maria; Gardella, Elena; Striano, Pasquale; Coppola, Antonietta Share Save
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals Dingemans, Alexander J. M.; Jansen, Sandra; van Reeuwijk, Jeroen; de Leeuw, Nicole; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke; van Bon, Bregje W.; Marcelis, Carlo; Ockeloen, Charlotte W.; Willemsen, Marjolein; van der Sluijs, Pleuntje J.; Santen, Gijs W. E.; Kooy, R. Frank; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A. Share Save
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes Harris, Erica L.; Roy, Vincent; Montagne, Martin; Rose, Ailsa M. S.; Livesey, Helen; Reijnders, Margot R. F.; Hobson, Emma; Sansbury, Francis H.; Willemsen, Marjolein H.; Pfundt, Rolph; Warren, Daniel; Long, Vernon; Carr, Ian M.; Brunner, Han G.; Sheridan, Eamonn G.; Firth, Helen V.; Lavigne, Pierre; Poulter, James A. Share Save
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks Teunissen, Maria W. A.; Lewerissa, Elly; van Hugte, Eline J. H.; Wang, Shan; Ockeloen, Charlotte W.; Koolen, David A.; Pfundt, Rolph; Marcelis, Carlo L. M.; Brilstra, Eva; Howe, Jennifer L.; Scherer, Stephen W.; Le Guillou, Xavier; Bilan, Frederic; Primiano, Michelle; Roohi, Jasmin; Piton, Amelie; de Saint Martin, Anne; Baer, Sarah; Seiffert, Simone; Platzer, Konrad; Jamra, Rami Abou; Syrbe, Steffen; Doering, Jan H.; Lakhani, Shenela; Nangia, Srishti; Gilissen, Christian; Vermeulen, R. Jeroen; Rouhl, Rob P. W.; Brunner, Han G.; Willemsen, Marjolein H.; Kasri, Nael Nadif Share Save
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Graefe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Bon, Bregje W. van; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marjia; McCabe, Brian D.; Rios, Paolo De Los; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A. Share Save
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing Denomme-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; Jackson, Adam; Benetti, Elisa; Banka, Siddharth; Bruel, Ange-Line; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Duffourd, Yannis; Ellwanger, Kornelia; Fallerini, Chiara; Gilissen, Christian; Graessner, Holm; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marcais, Nolwenn; Kleefstra, Tjitske; Lopez-Martin, Estrella; Macek, Milan, Jr.; Mencarelli, Maria Antonietta; Moutton, Sebastien; Pfundt, Rolph; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Safraou, Hana; Schwarz, Martin; Tartaglia, Marco; Thauvin-Robinet, Christel; Thevenon, Julien; Mau-Them, Frederic Tran; Trimouille, Aurelien; Votypka, Pavel; Vries, Bert B. A. de; Willemsen, Marjolein H.; Zurek, Birte; Verloes, Alain; Philippe, Christophe; Vitobello, Antonio; Vissers, Lisenka E. L. M.; Faivre, Laurence Share Save
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M. Share Save
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series Seiffert, Simone; Pendziwiat, Manuela; Bierhals, Tatjana; Goel, Himanshu; Schwarz, Niklas; van der Ven, Amelie; Bosselmann, Christian Malte; Lemke, Johannes; Syrbe, Steffen; Willemsen, Marjolein Hanna; Hedrich, Ulrike Barbara Stefanie; Helbig, Ingo; Weber, Yvonne Share Save
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder Cuinat, Silvestre; Nizon, Mathilde; Isidor, Bertrand; Stegmann, Alexander; van Jaarsveld, Richard H.; van Gassen, Koen L.; van der Smagt, Jasper J.; Volker-Touw, Catharina M. L.; Holwerda, Sjoerd J. B.; Terhal, Paulien A.; Schuhmann, Sarah; Vasileiou, Georgia; Khalifa, Mohamed; Nugud, Alaa A.; Yasaei, Hemad; Ousager, Lilian Bomme; Brasch-Andersen, Charlotte; Deb, Wallid; Besnard, Thomas; Simon, Marleen E. H.; Huijsdens-van Amsterdam, Karin; Verbeek, Nienke E.; Matalon, Dena; Dykzeul, Natalie; White, Shana; Spiteri, Elizabeth; Devriendt, Koen; Boogaerts, Anneleen; Willemsen, Marjolein; Brunner, Han G.; Sinnema, Margje; De Vries, Bert B. A.; Gerkes, Erica H.; Pfundt, Rolph; Izumi, Kosuke; Krantz, Ian D.; Xu, Zhou L.; Murrell, Jill R.; Valenzuela, Irene; Cusco, Ivon; Rovira-Moreno, Eulalia; Yang, Yaping; Bizaoui, Varoona; Patat, Olivier; Faivre, Laurence; Tran-Mau-Them, Frederic; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Philippe, Christophe; Bezieau, Stephane; Cogne, Benjamin Share Save
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism Miceli, Francesco; Millevert, Charissa; Soldovieri, Maria Virginia; Mosca, Ilaria; Ambrosino, Paolo; Carotenuto, Lidia; Schrader, Dewi; Lee, Hyun Kyung; Riviello, James; Hong, William; Risen, Sarah; Emrick, Lisa; Amin, Hitha; Ville, Dorothee; Edery, Patrick; de Bellescize, Julitta; Michaud, Vincent; Van-Gils, Julien; Goizet, Cyril; Willemsen, Marjolein H.; Kleefstra, Tjitske; Moller, Rikke S.; Bayat, Allan; Devinsky, Orrin; Sands, Tristan; Korenke, G. Christoph; Kluger, Gerhard; Mefford, Heather C.; Brilstra, Eva; Lesca, Gaetan; Milh, Mathieu; Cooper, Edward C.; Taglialatela, Maurizio; Weckhuysen, Sarah Share Save
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome van der Spek, Jet; den Hoed, Joery; Blok, Lot Snijders; Dingemans, Alexander J. M.; Schijven, Dick; Nellaker, Christoffer; Venselaar, Hanka; Astuti, Galuh D. N.; Barakat, Tahsin Stefan; Bebin, E. Martina; Beck-Wodl, Stefanie; Beunders, Gea; Brown, Natasha J.; Brunet, Theresa; Brunner, Han G.; Campeau, Philippe M.; Cuturilo, Goran; Gilissen, Christian; Haack, Tobias B.; Huning, Irina; Husain, Ralf A.; Kamien, Benjamin; Lim, Sze Chern; Lovrecic, Luca; Magg, Janine; Maver, Ales; Miranda, Valancy; Monteil, Danielle C.; Ockeloen, Charlotte W.; Pais, Lynn S.; Plaiasu, Vasilica; Raiti, Laura; Richmond, Christopher; Riess, Angelika; Schwaibold, Eva M. C.; Simon, Marleen E. H.; Spranger, Stephanie; Tan, Tiong Yang; Thompson, Michelle L.; de Vries, Bert B. A.; Wilkins, Ella J.; Willemsen, Marjolein H.; Francks, Clyde; Vissers, Lisenka E. L. M.; Fisher, Simon E.; Kleefstra, Tjitske Share Save
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder Melland, Holly; Bumbak, Fabian; Kolesnik-Taylor, Anna; Ng-Cordell, Elise; John, Abinayah; Constantinou, Panayiotis; Joss, Shelagh; Larsen, Martin; Fagerberg, Christina; Laulund, Lone Walentin; Thies, Jenny; Emslie, Frances; Willemsen, Marjolein; Kleefstra, Tjitske; Pfundt, Rolf; Barrick, Rebekah; Chang, Richard; Loong, Lucy; Alfadhel, Majid; van der Smagt, Jasper; Nizon, Mathilde; Kurian, Manju A.; Scott, Daniel J.; Ziarek, Joshua J.; Gordon, Sarah L.; Baker, Kate Share Save
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome Weerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-Guerra, Karla A.; van Bever, Yolande; van Paassen, Barbara W.; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M.; Kehoe, Caroline M.; Robinson, Hannah K.; Pang, Lewis; Banu, Selina H.; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Jarvela, Irma; Lauronen, Leena; Maatta, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M.; Ruivenkamp, Claudia A. L.; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M.; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K.; Lupski, James R.; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J. Lawrence, II; Mirzaa, Ghayda M.; Timms, Andrew E.; Scheck, Joshua; Elting, Mariet W.; Polstra, Abeltje M.; Schenck, Lauren; Ruzhnikov, Maura R. Z.; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Pastore, Matthew T.; McBride, Kim L.; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D.; de Vries, Bert B. A.; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R.; Klemp, Kara C.; Vansenne, Fleur; van Gijn, Marielle E.; Quindipan, Catherine; Deardorff, Matthew A.; Hamm, J. Austin; Putnam, Abbey M.; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A.; Baptista, Julia; Person, Richard E.; Monaghan, Kristin G.; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T.; Barakat, Tahsin Stefan Share Save
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder Semino, Francesca; Schroeter, Julian; Willemsen, Marjolein H.; Bast, Thomas; Biskup, Saskia; Beck-Woedl, Stefanie; Brennenstuhl, Heiko; Schaaf, Christian P.; Koelker, Stefan; Hoffmann, Georg F.; Haack, Tobias B.; Syrbe, Steffen Share Save
Germline AGO2 mutations impair RNA interference and human neurological development Lessel, Davor; Zeitler, Daniela M.; Reijnders, Margot R. F.; Kazantsev, Andriy; Nia, Fatemeh Hassani; Bartholomaeus, Alexander; Martens, Victoria; Bruckmann, Astrid; Graus, Veronika; McConkie-Rosell, Allyn; McDonald, Marie; Lozic, Bernarda; Tan, Ee-Shien; Gerkes, Erica; Johannsen, Jessika; Denecke, Jonas; Telegrafi, Aida; Zonneveld-Huijssoon, Evelien; Lemmink, Henny H.; Cham, Breana W. M.; Kovacevic, Tanja; Ramsdell, Linda; Foss, Kimberly; Le Duc, Diana; Mitter, Diana; Syrbe, Steffen; Merkenschlager, Andreas; Sinnema, Margje; Panis, Bianca; Lazier, Joanna; Osmond, Matthew; Hartley, Taila; Mortreux, Jeremie; Busa, Tiffany; Missirian, Chantal; Prasun, Pankaj; Luettgen, Sabine; Mannucci, Ilaria; Lessel, Ivana; Schob, Claudia; Kindler, Stefan; Pappas, John; Rabin, Rachel; Willemsen, Marjolein; Gardeitchik, Thatjana; Loehner, Katharina; Rump, Patrick; Dias, Kerith-Rae; Evans, Carey-Anne; Andrews, Peter Ian; Roscioli, Tony; Brunner, Han G.; Chijiwa, Chieko; Lewis, M. E. Suzanne; Abou Jamra, Rami; Dyment, David A.; Boycott, Kym M.; Stegmann, Alexander P. A.; Kubisch, Christian; Tan, Ene-Choo; Mirzaa, Ghayda M.; McWalter, Kirsty; Kleefstra, Tjitske; Pfundt, Rolph; Ignatova, Zoya; Meister, Gunter; Kreienkamp, Hans-Juergen Share Save
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome Kummeling, Joost; Stremmelaar, Diante E.; Raun, Nicholas; Reijnders, Margot R. F.; Willemsen, Marjolein H.; Ruiterkamp-Versteeg, Martina; Schepens, Marga; Man, Calvin C. O.; Gilissen, Christian; Cho, Megan T.; McWalter, Kirsty; Sinnema, Margje; Wheless, James W.; Simon, Marleen E. H.; Genetti, Casie A.; Casey, Alicia M.; Terhal, Paulien A.; van Der Smagt, Jasper J.; van Gassen, Koen L., I; Joset, Pascal; Bahr, Angela; Steindl, Katharina; Rauch, Anita; Keller, Elmar; Raas-Rothschild, Annick; Koolen, David A.; Agrawal, Pankaj B.; Hoffman, Trevor L.; Powell-Hamilton, Nina N.; Thiffault, Isabelle; Engleman, Kendra; Zhou, Dihong; Bodamer, Olaf; Hoefele, Julia; Riedhammer, Korbinian M.; Schwaibold, Eva M. C.; Tasic, Velibor; Schubert, Dirk; Top, Deniz; Pfundt, Rolph; Higgs, Martin R.; Kramer, Jamie M.; Kleefstra, Tjitske Share Save
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy Carvill, Gemma L.; Helbig, Katherine L.; Myers, Candace T.; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N.; Guida, Brandon S.; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A.; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timothy; Rohena, Luis O.; Accogli, Andrea; Severino, Mariasavina; Hollingsworth, Georgina; Gill, Deepak; Depienne, Christel; Nava, Caroline; Sadleir, Lynette G.; Caruso, Paul A.; Lin, Angela E.; Jansen, Floor E.; Koeleman, Bobby; Brilstra, Eva; Willemsen, Marjolein H.; Kleefstra, Tjitske; Sa, Joaquim; Mathieu, Marie-Laure; Perrin, Laurine; Lesca, Gaetan; Striano, Pasquale; Casari, Giorgio; Scheffer, Ingrid E.; Raible, David; Sattlegger, Evelyn; Capra, Valeria; Padilla-Lopez, Sergio; Mefford, Heather C.; Kruer, Michael C. Share Save
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders Guo, Hui; Bettella, Elisa; Marcogliese, Paul C.; Zhao, Rongjuan; Andrews, Jonathan C.; Nowakowski, Tomasz J.; Gillentine, Madelyn A.; Hoekzema, Kendra; Wang, Tianyun; Wu, Huidan; Jangam, Sharayu; Liu, Cenying; Ni, Hailun; Willemsen, Marjolein H.; van Bon, Bregje W.; Rinne, Tuula; Stevens, Servi J. C.; Kleefstra, Tjitske; Brunner, Han G.; Yntema, Helger G.; Long, Min; Zhao, Wenjing; Hu, Zhengmao; Colson, Cindy; Richard, Nicolas; Schwartz, Charles E.; Romano, Corrado; Castiglia, Lucia; Bottitta, Maria; Dhar, Shweta U.; Erwin, Deanna J.; Emrick, Lisa; Keren, Boris; Afenjar, Alexandra; Zhu, Baosheng; Bai, Bing; Stankiewicz, Pawel; Herman, Kristin; Mercimek-Andrews, Saadet; Juusola, Jane; Wilfert, Amy B.; Abou Jamra, Rami; Buettner, Benjamin; Mefford, Heather C.; Muir, Alison M.; Scheffer, Ingrid E.; Regan, Brigid M.; Malone, Stephen; Gecz, Jozef; Cobben, Jan; Weiss, Marjan M.; Waisfisz, Quinten; Bijlsma, Emilia K.; Hoffer, Mariette J., V; Ruivenkamp, Claudia A. L.; Sartori, Stefano; Xia, Fan; Rosenfeld, Jill A.; Bernier, Raphael A.; Wangler, Michael F.; Yamamoto, Shinya; Xia, Kun; Stegmann, Alexander P. A.; Bellen, Hugo J.; Murgia, Alessandra; Eichler, Evan E.; Nickerson, Deborah A.; Bamshad, Michael J. Share Save
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