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SavePathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
Verbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle Share Save Sequence variants in HECTD1 result in a variable neurodevelopmental disorderZerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D.; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D.; Ruiz, Anna; Manso-Basuz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L.; Vilain, Eric; Arnadottir, Gudny A.; Sulem, Patrick; Sulem, Telma S.; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M.; Valentine, Rozalia; Trowbridge, Sara K.; Murali, Chaya N.; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D.; Keppler-Noreuil, Kim M.; Hall, April L.; Mcgivern, Bobbi; Monaghan, Kristin G.; Sacoto, Maria J. Guillen; Baldridge, Dustin; Silverman, Gary A.; Dahiya, Sonika; Turner, Tychele N.; Schedl, Tim; Corbin, Joshua G.; Pak, Stephen C.; Zohn, Irene E.; Gurnett, Christina A. Share Save Further delineation of the SCAF4-associated neurodevelopmental disorderSchmid, Cosima M.; Gregor, Anne; Ruiz, Anna; Manso Bazus, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; Mcniven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogne, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B.; Falb, Ruth J.; Mueller, Amelie J.; Linden, Tobias; Haldeman-Englert, Chad R.; Ockeloen, Charlotte W.; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A.; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M.; Elloumi, Houda Z.; Person, Richard; Zou, Fanggeng; Kahle, Juliette J.; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M.; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J. M.; Elshafie, Reem M.; Alsharhan, Hind; Hillman, Paul R.; Dunnington, Leslie A.; Braakman, Hilde M. H.; Mckee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S.; Gordon, Patricia; Schuhmann, Sarah; Reis, Andre; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tuemer, Zeynep; Hammer-Hansen, Sophia; Krueger Solyst, Sofus; Steigerwald, Connolly G.; Abreu, Nicolas J.; Faust, Helene; Mueller-Nedebock, Amica; Tran Mau-Them, Frederic; Sticht, Heinrich; Zweier, Christiane Share Save SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish populationMoreno-Cabrera, Jose M.; Feliubadalo, Lidia; Pineda, Marta; Prada-Dacasa, Patricia; Ramos-Muntada, Mireia; Del Valle, Jesus; Brunet, Joan; Gel, Bernat; Curras-Freixes, Maria; Calsina, Bruna; Salazar-Hidalgo, Milton E.; Rodriguez-Balada, Marta; Roig, Barbara; Fernandez-Castillejo, Sara; Duran Dominguez, Mercedes; Arranz Ledo, Monica; Infante Sanz, Mar; Castillejo, Adela; Damaso, Estela; Soto, Jose L.; de Miguel, Montserrat; Hidalgo Calero, Beatriz; Sanchez-Zapardiel, Jose M.; Ramon Y Ramon, Teresa; Lasa, Adriana; Gisbert-Beamud, Alexandra; Lopez-Novo, Anael; Ruiz-Ponte, Clara; Potrony, Miriam; Alvarez-Mora, Maria, I; Osorio, Ana; Lorda-Sanchez, Isabel; Robledo, Mercedes; Cascon, Alberto; Ruiz, Anna; Spataro, Nino; Hernan, Imma; Borras, Emma; Moles-Fernandez, Alejandro; Earl, Julie; Cadinanos, Juan; Sanchez-Heras, Ana B.; Bigas, Anna; Capella, Gabriel; Lazaro, Conxi Share Save Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndromeBaena, Neus; Monk, David; Aguilera, Cinthia; Fraga, Mario F.; Fernandez, Agustin F.; Gabau, Elisabeth; Corripio, Raquel; Capdevila, Nuria; Trujillo, Juan Pablo; Ruiz, Anna; Guitart, Miriam Share Save Molecular and Phenotypic Characterization of the RORB-Related DisorderGokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noemie; Korff, Christian M.; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A.; Labalme, Audrey; Cuddapah, Vishnu A.; Ruggiero, Sarah M.; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O.; Helbig, Katherine L.; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A.; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S.; Rosenfeld, Jill A.; Au, Margaret; Grand, Katheryn; Graham Jr, John M.; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E.; Koop, Klaas; Rudolf, Gabrielle; Kury, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, Gaetan Share Save Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypesScala, Marcello; Nishikawa, Masashi; Ito, Hidenori; Tabata, Hidenori; Khan, Tayyaba; Accogli, Andrea; Davids, Laura; Ruiz, Anna; Chiurazzi, Pietro; Cericola, Gabriella; Schulte, Bjoern; Monaghan, Kristin G.; Begtrup, Amber; Torella, Annalaura; Pinelli, Michele; Denomme-Pichon, Anne Sophie; Vitobello, Antonio; Racine, Caroline; Mancardi, Maria Margherita; Kiss, Courtney; Guerin, Andrea; Wu, Wendy; Vila, Elisabeth Gabau; Mak, Bryan C.; Martinez-Agosto, Julian A.; Gorin, Michael B.; Duz, Bugrahan; Bayram, Yavuz; Carvalho, Claudia M. B.; Vengoechea, Jaime E.; Chitayat, David; Tan, Tiong Yang; Callewaert, Bert; Kruse, Bernd; Bird, Lynne M.; Faivre, Laurence; Zollino, Marcella; Biskup, Saskia; Striano, Pasquale; Nigro, Vincenzo; Severino, Mariasavina; Capra, Valeria; Costain, Gregory; Nagata, Koh-ichi 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 Share Save Share Save Mutations in HID1 Cause Syndromic Infantile Encephalopathy and HypopituitarismSchaenzer, Anne; Achleitner, Melanie T.; Truembach, Dietrich; Hubert, Laurence; Munnich, Arnold; Ahlemeyer, Barbara; AlAbdulrahim, Maha M.; Greif, Philipp A.; Vosberg, Sebastian; Hummer, Blake; Feichtinger, Rene G.; Mayr, Johannes A.; Wortmann, Saskia B.; Aichner, Heidi; Rudnik-Schoeneborn, Sabine; Ruiz, Anna; Gabau, Elisabeth; Sanchez, Jacobo Perez; Ellard, Sian; Homfray, Tessa; Stals, Karen L.; Wurst, Wolfgang; Neubauer, Bernd A.; Acker, Till; Bohlander, Stefan K.; Asensio, Cedric; Besmond, Claude; Alkuraya, Fowzan S.; AlSayed, Moenaldeen D.; Hahn, Andreas; Weber, Axel Share Save Share Save Share Save The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunctionLenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; Laumonnier, Frederic; Toutain, Annick; Bonnet-Brilhault, Frederique; Hoorne, Yana; Joss, Shelagh; Chassevent, Anna K.; Smith-Hicks, Constance; Loeys, Bart; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mehta, Sarju G.; Chung, Wendy K.; Devriendt, Koenraad; Holder, Susan E.; Jewett, Tamison; Baldwin, Lauren M.; Wilson, William G.; Towner, Shelley; Srivastava, Siddharth; Johnson, Hannah F.; Daumer-Haas, Cornelia; Baethmann, Martina; Ruiz, Anna; Gabau, Elisabeth; Jain, Vani; Varghese, Vinod; Al-Beshri, Ali; Fulton, Stephen; Wechsberg, Oded; Orenstein, Naama; Prescott, Katrina; Childs, Anne-Marie; Faivre, Laurence; Moutton, Sebastien; Sullivan, Jennifer A.; Shashi, Vandana; Koudijs, Suzanne M.; Heijligers, Malou; Kivuva, Emma; McTague, Amy; Male, Alison; van Ierland, Yvette; Plecko, Barbara; Maystadt, Isabelle; Hamid, Rizwan; Hannig, Vickie L.; Houge, Gunnar; Janssens, Veerle Share Save De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayVissers, Lisenka E. L. M.; Kalvakuri, Sreehari; de Boer, Elke; Geuer, Sinje; Oud, Machteld; van Outersterp, Inge; Kwint, Michael; Witmond, Melde; Kersten, Simone; Polla, Daniel L.; Weijers, Dilys; Begtrup, Amber; McWalter, Kirsty; Ruiz, Anna; Gabau, Elisabeth; Morton, Jenny E., V; Griffith, Christopher; Weiss, Karin; Gamble, Candace; Bartley, James; Vernon, Hilary J.; Brunet, Kendra; Ruivenkamp, Claudia; Kant, Sarina G.; Kruszka, Paul; Larson, Austin; Afenjar, Alexandra; de Villemeur, Thierry Billette; Nugent, Kimberly; Raymond, F. Lucy; Venselaar, Hanka; Demurger, Florence; Soler-Alfonso, Claudia; Li, Dong; Bhoj, Elizabeth; Hayes, Ian; Hamilton, Nina Powell; Ahmad, Ayesha; Fisher, Rachel; van den Born, Myrthe; Willems, Marjolaine; Sorlin, Arthur; Delanne, Julian; Moutton, Sebastien; Christophe, Philippe; Mau-Them, Frederic Tran; Vitobello, Antonio; Goel, Himanshu; Massingham, Lauren; Phornphutkul, Chanika; Schwab, Jennifer; Keren, Boris; Charles, Perrine; Vreeburg, Maaike; De Simone, Lenika; Hoganson, George; Iascone, Maria; Milani, Donatella; Evenepoel, Lucie; Revencu, Nicole; Ward, D. Isum; Burns, Kaitlyn; Krantz, Ian; Raible, Sarah E.; Murrell, Jill R.; Wood, Kathleen; Cho, Megan T.; van Bokhoven, Hans; Muenke, Maximilian; Kleefstra, Tjitske; Bodmer, Rolf; de Brouwer, Arjan P. M. Share Save De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsySa, Maria J. Nabais; Venselaar, Hanka; Wiel, Laurens; Trimouille, Aurelien; Lasseaux, Eulalie; Naudion, Sophie; Lacombe, Didier; Piton, Amelie; Vincent-Delorme, Catherine; Zweier, Christiane; Reis, Andre; Trollmann, Regina; Ruiz, Anna; Gabau, Elisabeth; Vetro, Annalisa; Guerrini, Renzo; Bakhtiari, Somayeh; Kruer, Michael C.; Amor, David J.; Cooper, Monica S.; Bijlsma, Emilia K.; Barakat, Tahsin Stefan; van Dooren, Marieke F.; van Slegtenhorst, Marjon; Pfundt, Rolph; Gilissen, Christian; Willemsen, Michel A.; de Vries, Bert B. A.; de Brouwer, Arjan P. M.; Koolen, David A. Share Save Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disordersThygesen, Johan H.; Wolfe, Kate; McQuillin, Andrew; Vinas-Jornet, Marina; Baena, Neus; Brison, Nathalie; D'Haenens, Greet; Esteba-Castillo, Susanna; Gabau, Elisabeth; Ribas-Vidal, Nuria; Ruiz, Anna; Vermeesch, Joris; Weyts, Eddy; Novell, Ramon; Van Buggenhout, Griet; Strydom, Andre; Bass, Nick; Guitart, Miriam; Vogels, Annick Share Save Nidogen 1 and Nuclear Protein 1: novel targets of ETV5 transcription factor involved in endometrial cancer invasionPedrola, Nuria; Devis, Laura; Llaurado, Marta; Campoy, Irene; Martinez-Garcia, Elena; Garcia, Marta; Muinelo-Romay, Laura; Alonso-Alconada, Lorena; Abal, Miguel; Alameda, Francesc; Mancebo, Gemma; Carreras, Ramon; Castellvi, Josep; Cabrera, Silvia; Gil-Moreno, Antonio; Matias-Guiu, Xavier; Iovanna, Juan L.; Colas, Eva; Reventos, Jaume; Ruiz, Anna Share Save microRNA expression profile in stage III colorectal cancer: Circulating miR-18a and miR-29a as promising biomarkersBrunet Vega, Anna; Pericay, Carles; Moya, Irene; Ferrer, Anna; Dotor, Emma; Pisa, Aleydis; Casalots, Alex; Serra-Aracil, Xavier; Oliva, Joan-Carles; Ruiz, Anna; Saigi, Eugeni Share Save 
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