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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 |
| 22-Jun-2018 | Analysis of shared heritability in common disorders of the brain | Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K.; Walters, Raymond K.; Bras, Jose; Duncan, Laramie; Escott-Price, Valentina; Falcone, Guido J.; Gormley, Padhraig; Malik, Rainer; Patsopoulos, Nikolaos A.; Ripke, Stephan; Walters, James; Wei, Zhi; Yu, Dongmei; Lee, Phil H.; Turley, Patrick; IGAP consortium; IHGC consortium; ILAE Consortium on Complex Epilepsies; IMSGC consortium; IPDGC consortium; METASTROKE; Intracerebral Hemorrhage Studies of the International Stroke Genetics Consortium [...] Rabionet R [...]; Attention-Deficit Hyperactivity Disorder Working Group of the Psychiatric Genomics Consortium; Anorexia Nervosa Working Group of the Psychiatric Genomics Consortium; Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium; Bipolar Disorders Working Group of the Psychiatric Genomics Consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; Tourette Syndrome; Obsessive Compulsive Disorder; Tourette Syndrome Working Group of the Psychiatric Genomics Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Breen, Gerome; Churchhouse, Claire; Bulik, Cynthia M.; Daly, Mark; Dichgans, Martin; Cormand Rifà, Bru; Rabionet Janssen, Raquel |
| 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 |
| 16-Aug-2018 | Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing | Corominas, Jordi; Klein, Marieke; Zayats, Tetyana; Rivero, Olga; Ziegler, Georg C.; Pauper, Marc; Neveling, Kornelia; Poelmans, Geert; Jansch, Charline; Svirin, Evgeniy; Geissler, Julia; Weber, Heike; Reif, Andreas; Arias Vasquez, Alejandro; Galesloot, Tessel E.; Kiemeney, Lambertus A. L. M.; Buitelaar, Jan K.; Ramos Quiroga, Josep Antoni; Cormand Rifà, Bru; Ribasés Haro, Marta; Hveem, Kristian; Gabrielsen, Maiken Elvestad; Hoffmann, Per; Jacob, Christian P.; Romanos, Marcel; Franke, Barbara; Lesch, Klaus-Peter |
| 9-Feb-2023 | Genome-wide DNA methylation analysis in an antimigraine-treated preclinical model of cortical spreading depolarization | Vila-Pueyo, Marta; Cuenca León, Ester; Queirós, Ana C.; Kulis, Marta; Sintas Vives, Cèlia; Cormand Rifà, Bru; Martín-Subero, José Ignacio; Pozo-Rosich, Patricia; Fernàndez Castillo, Noèlia; Macaya Ruiz, Alfons |
| 3-Feb-2021 | Polygenic association between attention-deficit/hyperactivity disorder liability and cognitive impairments | Vainieri, Isabella; Martin, Joanna; Rommel, Anna-Sophie; Asherson, Philip; Banaschewski, Tobias; Buitelaar, Jan; Cormand Rifà, Bru; Crosbie, Jennifer; Faraone, Stephen V.; Franke, Barbara; Loo, Sandra K.; Miranda, Ana; Manor, Iris; Oades, Robert D.; Purves, Kirstin L.; Ramos-Quiroga, J. Antoni; Ribasés, Marta; Roeyers, Herbert; Rothenberger, Aribert; Schachar, Russell; Sergeant, Joseph; Steinhausen, Hans-Christoph; Vuijk, Pieter J.; Doyle, Alysa E.; Kuntsi, Joanna |
| 27-Aug-2021 | Molecular genetics of cocaine use disorders in humans | Fernàndez Castillo, Noèlia; Cabana Domínguez, Judit; Corominas Castiñeira, Roser; Cormand Rifà, Bru |
| 10-Jan-2022 | Comprehensive exploration of the genetic contribution of the dopaminergic and serotonergic pathways to psychiatric disorders | Cabana Domínguez, Judit; Torrico Avilés, Bàrbara; Reif, Andreas; Fernàndez Castillo, Noèlia; Cormand Rifà, Bru |
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