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| Issue Date | Title | Author(s) |
|---|---|---|
| 23-Jul-2020 | Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants | Neuray, Caroline; Maroofian, Reza; Scala, Marcello; Sultan, Tipu; Pai, Gurpur S.; Mojarrad, Majid; El Khashab, Heba; deHoll, Leigh; Yue, Wyatt; Alsaif, Hessa S.; Zanetti, Maria N.; Bello, Oscar; Person, Richard; Eslahi, Atieh; Khazaei, Zaynab; Feizabadi, Masoumeh H; Efthymiou, Stephanie; SYNaPS Study Group; El Bassyouni, Hala T.; Soliman, Doaa R.; Tekes, Selahattin; Ozer, Leyla; Baltaci, Volkan; Khan, Suliman; Beetz, Christian; Amr, Khalda S.; Salpietro, Vicenzo; Jamshidi, Yalda; Alkuraya, Fowzan S.; Houlden, Henry; Cormand Rifà, Bru |
| 5-Mar-2020 | Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification | Schottlaender, Lucia V.; Abeti, Rosella; Jaunmuktane, Zane; Macmillan, Carol; Chelban, Viorica; O'Callaghan, Benjamin; McKinley, John; Maroofian, Reza; Efthymiou, Stepanie; Athanasiou Fragkouli, Alkyoni; Forbes, Raeburn; Soutar, Marc P.M.; Livingston, John H.; Kalmar, Bernadett; Swayne, Orlando; Hotton, Gary; SYNAPS Study Group; Pittman, Alan; Mendes de Oliveira, João Ricardo; de Grandis, Maria; Richard Loendt, Angela; Launchbury, Francesca; Althonayan, Juri; McDonnell, Gavin; Carr, Aisling S.; Khan, Suliman; Beetz, Christian; Bisgin, Atil; Tug Bozdogan, Sevcan; Begtrup, Amber; Torti, Erin; Greensmith, Linda; Giunti, Paola; Morrison, Patrick J.; Brandner, Sebastian; Aurrand Lions, Michael; Houlden, Henry; Cormand Rifà, Bru |
| 10-Nov-2020 | Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome | De Nittis, Pasquelena; Efthymiou. Sephanie; Sarre, Alexandre; Guex, Nicolas; Chrast, Jacqueline; Putoux, Audrey; Sultan, Tipu; Raza Alvi, Javeria; Ur Rahman, Zia; Zafar, Faisal; Rana, Nuzhat; Rahman, Fatima; Anwar, Najwa; Maqbool, Shazia; Zaki, Maha S.; Gleeson, Joseph G; Murphy, David; Galehdari, Hamid; Shariati, Gholamreza; Mazaheri, Neda; Sedaghat, Alireza; Lesca, Gaetan; Chatron, Nicolas; Salpietro, Vincenzo; Christoforou, Marilena; Houlden, Henry; Simonds, William F; Pedrazzini, Thierry; Maroofian, Reza; Reymond, Alexandre; Cormand Rifà, Bru; SYNAPS Study Group |
| 1-Sep-2020 | Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity | Matalonga Borrel, Lesley; Laurie, Steven; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez Jurado, Luis; Riess, Olaf; Gut, Ivo; van Ommen, Gert Jan; Lochmüller, Hanns; Beltrán, Sergi; RD-Connect Genome-Phenome Analysis Platform and UR; Cormand Rifà, Bru; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Urreizti, Roser; Garrabou Tornos, Glòria |
| 1-Jun-2020 | Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache. | Siewert, Katherine M.; Klarin, Derek; Damrauer, Scott M.; Chang, Kyong-Mi; Tsao, Philip S.; Assimes, Themistocles L.; Smith, George Davey; Voight, Benjamin F.; The International Headache Genetics Consortium; Cormand Rifà, Bru |
| 9-Mar-2020 | DDC expression is not regulated by NFAT5 (TonEBP) in dopaminergic neural cell lines upon hypertonic stress | Pineda-Cirera, L.; Cabana Domínguez, Judit; Benetó, N.; Díeze, H.; Arenas Solà, Concepción; Cormand Rifà, Bru; Fernàndez Castillo, Noèlia |
| 26-Oct-2020 | Characterisation of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions | Navas Pérez, Enrique; Vicente García, Cristina; Mirra, Serena; Burguera Hernández, Demian; Fernàndez Castillo, Noèlia; Ferrán, José Luis; López Mayorga, Macarena; Alaiz Noya, Marta; Suárez Pereira, Irene; Antón Galindo, Ester; Ulloa Darquea, Fausto Alexander; Herrera Úbeda, Carlos; Cuscó, Pol; Falcón Moya, Rafael; Rodríguez Moreno, Antonio; D'Aniello, Salvatore; Cormand Rifà, Bru; Marfany i Nadal, Gemma; Soriano García, Eduardo; Carrión, Ángel M.; Carvajal, Jaime J.; Garcia Fernández, Jordi |
| 2020 | Exploring allele specific methylation in drug dependence susceptibility | Pineda-Cirera, Laura; Cabana Domínguez, Judit; Grau-López, Laura; Daigree, Constanza; Sánchez-Mora, Cristina; Palma-Álvarez, Raul Felipe; Ramos-Quiroga, Josep Antoni; Ribasés Haro, Marta; Cormand Rifà, Bru; Fernàndez Castillo, Noèlia |
| 12-Apr-2020 | Shared genetic background between children and adults with attention deficit/hyperactivity disorder | Rovira, Paula; Demontis, Ditte; Sánchez Mora, Cristina Pilar; Zayats, Tetyana; Klein, Marieke; Roth Mota, Nina; Weber, Heike; Garcia-Martínez, Iris; Pagerols Teixidó, Mireia; Vilar, Laura; Arribas, Lorena; Richarte, Vanesa; Corrales, Montserrat; Fadeuilhe, Christian; Bosch, Rosa; Español, Gemma; Grevet, Eugenio Horacio; Halmøy, Anne; Hutz, Mara; Knappskog, Per M.; Lundervold, Aastri J.; Rovaris, Diego Luiz; Santos da Silva, Bruna; Sprooten, Emma; ADHD Working Group of the Psychiatric Genomics Consortium; Arias Vasquez, Alejandro; Sonuga-Barke, Edmund; Asherson, Philip; Bau, Claiton Henrique Dotto; Buitelaar, Jan K.; Cormand Rifà, Bru; Faraone, Stephen V.; Haavik, Jan; Johansson, Stefan E.; Kuntsi, Jonna; Larsson, Henrik; Lesch, Klaus-Peter; Reif, Andreas |
| 13-Jun-2020 | Involvement of the 14-3-3 gene family in autism spectrum disorder and schizophrenia: Genetics, transcriptomics and functional analyses | Torrico Avilés, Bàrbara; Antón Galindo, Ester; Fernàndez Castillo, Noèlia; Rojo Francàs, Eva; Ghorbani, Sadaf; Pineda Cirera, Laura; Hervás, Amaia; Rueda, Isabel; Moreno Guillén, Estefanía; Fullerton, Janice M.; Casadó, Vicent; Buitelaar, Jan K.; Rommelse, Nanda; Franke, Barbara; Reif, Andreas; Chiocchetti, Andreas G.; Freitag, Christine; Kleppe, Rune; Haavik, Jan; Toma, Claudio; Cormand Rifà, Bru |