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SaveSequence variants in HECTD1 result in a variable neurodevelopmental disorder
Zerafati-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 Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delayTan, Senwei; Zhang, Qiumeng; Zhan, Rui; Luo, Si; Han, Yaoling; Yu, Bin; Muss, Candace; Pingault, Veronique; Marlin, Sandrine; Delahaye, Andree; Peters, Sophia; Perne, Claudia; Kreiss, Martina; Spataro, Nino; Trujillo-Quintero, Juan Pablo; Racine, Caroline; Tran-Mau-Them, Frederic; Phornphutkul, Chanika; Besterman, Aaron D.; Martinez, Julian; Wang, Xiuxia; Tian, Xiaoyu; Srivastava, Siddharth; Urion, David K.; Madden, Jill A.; Saif, Hind Al; Morrow, Michelle M.; Begtrup, Amber; Li, Xing; Jurgensmeyer, Sarah; Leahy, Peter; Zhou, Shimin; Li, Faxiang; Hu, Zhengmao; Tan, Jieqiong; Xia, Kun; Guo, Hui 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 Share Save FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disabilitySchneider, Amy L.; Myers, Candace T.; Muir, Alison M.; Calvert, Sophie; Basinger, Alice; Perry, M. Scott; Rodan, Lance; Helbig, Katherine L.; Chambers, Chelsea; Gorman, Kathleen M.; King, Mary D.; Donkervoort, Sandra; Soldatos, Ariane; Bonnemann, Carsten G.; Spataro, Nino; Gabau, Elisabeth; Arellano, Montserrat; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rossignol, Elsa; Hamdan, Fadi F.; Michaud, Jacques L.; Balak, Christopher; Mefford, Heather C.; Scheffer, Ingrid E. Share Save Share Save Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genesGil-Varea, Elia; Spataro, Nino; Villar, Luisa Maria; Tejeda-Velarde, Amalia; Midaglia, Luciana; Matesanz, Fuencisla; Malhotra, Sunny; Eixarch, Herena; Patsopoulos, Nikolaos; Fernandez, Oscar; Oliver-Martos, Begona; Saiz, Albert; Llufriu, Sara; Ramio-Torrenta, Lluis; Quintana, Ester; Izquierdo, Guillermo; Alcina, Antonio; Bosch, Elena; Navarro, Arcadi; Montalban, Xavier; Comabella, Manuel Share Save A New Risk Variant for Multiple Sclerosis at 11q23.3 Locus Is Associated with Expansion of CXCR5+ Circulating Regulatory T CellsGil-Varea, Elia; Fedetz, Maria; Eixarch, Herena; Spataro, Nino; Villar, Luisa Maria; Urcelay, Elena; Saiz, Albert; Fernandez, Oscar; Leyva, Laura; Ramio-Torrenta, Lluis; Vandenbroeck, Koen; Otaegui, David; Castillo-Trivino, Tamara; Izquierdo, Guillermo; Malhotra, Sunny; Bosch, Elena; Navarro, Arcadi; Alcina, Antonio; Montalban, Xavier; Matesanz, Fuencisla; Comabella, Manuel Share Save Share Save A pharmacogenetic study implicates NINJ2 in the response to Interferon-β in multiple sclerosisPeroni, Silvia; Sorosina, Melissa; Malhotra, Sunny; Clarelli, Ferdinando; Osiceanu, Ana Maria; Ferre, Laura; Roostaei, Tina; Rio, Jordi; Midaglia, Luciana; Villar, Luisa Maria; Alvarez-Cermeno, Jose Carlos; Guaschino, Clara; Radaelli, Marta; Citterio, Lorena; Lechner-Scott, Jeannette; Spataro, Nino; Navarro, Arcadi; Martinelli, Vittorio; Montalban, Xavier; Weiner, Howard L.; de Jager, Philip; Comi, Giancarlo; Esposito, Federica; Comabella, Manuel; Martinelli-Boneschi, Filippo Share Save NLRP3 polymorphisms and response to interferon-beta in multiple sclerosis patientsMalhotra, Sunny; Sorosina, Melissa; Rio, Jordi; Peroni, Silvia; Midaglia, Luciana; Villar, Luisa M.; Alvarez-Cermeno, Jose C.; Schroeder, Ina; Esposito, Federica; Clarelli, Ferdinando; Zettl, Uwe K.; Lechner-Scott, Jeannette; Spataro, Nino; Navarro, Arcadi; Comi, Giancarlo; Montalban, Xavier; Martinelli-Boneschi, Filippo; Comabella, Manuel Share Save Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutationDols-Icardo, Oriol; Garcia-Redondo, Alberto; Rojas-Garcia, Ricardo; Borrego-Hernandez, Daniel; Illan-Gala, Ignacio; Luis Munoz-Blanco, Jose; Rabano, Alberto; Cervera-Carles, Laura; Juarez-Rufian, Alexandra; Spataro, Nino; De Luna, Noemi; Galan, Lucia; Cortes-Vicente, Elena; Fortea, Juan; Blesa, Rafael; Grau-Rivera, Oriol; Lleo, Alberto; Esteban-Perez, Jesus; Gelpi, Ellen; Clarimon, Jordi Share Save Share Save Share Save Detection of Genomic Rearrangements From Targeted Resequencing Data in Parkinson's Disease PatientsSpataro, Nino; Roca-Umbert, Ana; Cervera-Carles, Laura; Valles, Monica; Anglada, Roger; Pagonabarraga, Javier; Pascual-Sedano, Berta; Campolongo, Antonia; Kulisevsky, Jaime; Casals, Ferran; Clarimon, Jordi; Bosch, Elena Share Save Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in LiverEngelken, Johannes; Espadas, Guadalupe; Mancuso, Francesco M.; Bonet, Nuria; Scherr, Anna-Lena; Jimenez-Alvarez, Victoria; Codina-Sola, Marta; Medina-Stacey, Daniel; Spataro, Nino; Stoneking, Mark; Calafell, Francesc; Sabido, Eduard; Bosch, Elena Share Save Mendelian genes for Parkinson's disease contribute to the sporadic forms of the diseaseSpataro, Nino; Calafell, Francesc; Cervera-Carles, Laura; Casals, Ferran; Pagonabarraga, Javier; Pascual-Sedano, Berta; Campolongo, Antonia; Kulisevsky, Jaime; Lleo, Alberto; Navarro, Arcadi; Clarimon, Jordi; Bosch, Elena Share Save 
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