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11 p, 1014.2 KB |
The broad phenotypic spectrum of PPP2R1A -related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
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Lenaerts, Lisa (University of Leuven) ;
Reynhout, Sara (KU Leuven Brain Institute (LBI)) ;
Verbinnen, Iris (University of Leuven) ;
Laumonnier, Frédéric (Centre Hospitalier Régional Universitaire (Tours, França)) ;
Toutain, Annick (Centre Hospitalier Régional Universitaire (Tours, França)) ;
Bonnet-Brilhault, Frédérique (Centre Hospitalier Régional Universitaire) ;
Hoorne, Yana (University of Leuven) ;
Joss, Shelagh (Queen Elizabeth University Hospital) ;
Chassevent, Anna K. (Kennedy Krieger Institute) ;
Smith-Hicks, Constance (Kennedy Krieger Institute) ;
Loeys, Bart (University of Antwerp) ;
Joset, Pascal (University of Zurich) ;
Steindl, Katharina (University of Zurich) ;
Rauch, Anita (University of Zurich) ;
Mehta, Sarju G. (Addenbrookes Hospital (Cambridge, Regne Unit)) ;
Chung, Wendy (Columbia University Medical Center) ;
Devriendt, Koenraad (University of Leuven) ;
Holder, Susan E. (North West Thames Regional Genetics Service) ;
Jewett, Tamison (Wake Forest University) ;
Baldwin, Lauren M. (Wake Forest University) ;
Wilson, William G. (University of Virginia) ;
Towner, Shelley (University of Virginia) ;
Srivastava, Siddharth (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Johnson, Hannah F. (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Daumer-Haas, Cornelia (Prenatal Medicine Munich) ;
Baethmann, Martina (Klinikum Dritter Orden München) ;
Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Jain, Vani (University Hospital of Wales) ;
Varghese, Vinod (University Hospital of Wales) ;
Al-Beshri, Ali (University of Alabama at Birmingham) ;
Fulton, Stephen (Le Bonheur Children's Hospital) ;
Wechsberg, Oded (Maccabi Healthcare Services) ;
Orenstein, Naama (Tel Aviv University) ;
Prescott, Katrina (Leeds Teaching Hospitals NHS Trust) ;
Childs, Anne-Marie (Leeds Teaching Hospitals NHS Trust) ;
Faivre, Laurence (Université de Bourgogne) ;
Moutton, Sébastien (Maison de Santé Bordeaux Bagatelle (Talence, França)) ;
Sullivan, Jennifer A. (Duke University Medical Center) ;
Shashi, Vandana (Duke University Medical Center) ;
Koudijs, Suzanne M. (Maastricht UMC+) ;
Heijligers, Malou (Maastricht UMC+) ;
Kivuva, Emma (Royal Devon & Exeter NHS Foundation Trust) ;
McTague, Amy (Great Ormond Street Hospital for Children (Londres)) ;
Male, Alison M. (Great Ormond Street Hospital for Children (Londres)) ;
van Ierland, Yvette (Erasmus MC) ;
Plecko, Barbara (Medical University of Graz) ;
Maystadt, Isabelle (Institut de Pathologie et de Génétique) ;
Hamid, Rizwan (Vanderbilt University Medical Center) ;
Hannig, Vickie L. (Vanderbilt University Medical Center) ;
Houge, Gunnar (Haukeland University Hospital (Bergen, Noruega)) ;
Janssens, Veerle (KU Leuven Brain Institute (LBI)) ;
Universitat Autònoma de Barcelona
Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by characterizing 30 individuals with de novo and often recurrent variants in this PP2A scaffolding Aα subunit. [...]
2020 -  10.1038/s41436-020-00981-2
Genetics in medicine, Vol. 23 Num. 2 (feb. 2021) , p. 352-362
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15 p, 1010.8 KB |
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
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Lahrouchi, Najim (University of Amsterdam) ;
Tadros, Rafik (Université de Montréal) ;
Crotti, Lia (University of Milano-Bicocca) ;
Mizusawa, Yuka (University of Amsterdam) ;
Postema, Pieter G. (University of Amsterdam) ;
Beekman, Leander (University of Amsterdam) ;
Walsh, Roddy (University of Amsterdam) ;
Hasegawa, Kanae (Shiga University of Medical Science, Otsu, Japan) ;
Barc, Julien (Inserm, France) ;
Ernsting, Marko (University Hospital Muenster (Alemanya)) ;
Turkowski, Kari L. (Mayo Clinic, Rochester) ;
Mazzanti, Andrea (University of Pavia) ;
Beckmann, Britt M. (University Hospital of the Ludwig Maximilians University, Munich) ;
Shimamoto, Keiko (National Cerebral and Cardiovascular Center, Osaka) ;
Diamant, Ulla-Britt (Umeå University, Sweden) ;
Wijeyeratne, Yanushi D. (St George's University of London) ;
Kucho, Yu (National Hospital Organization Kagoshima Medical Center, Japan) ;
Robyns, Tomas (University Hospitals Leuven (Bèlgica)) ;
Ishikawa, Taisuke (National Cerebral and Cardiovascular Center, Osaka) ;
Arbelo, Elena (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Christiansen, Michael (Statens Serum Institute, Copenhagen) ;
Winbo, Annika (The University of Auckland) ;
Jabbari, Reza (Copenhagen University Hospital) ;
Lubitz, Steven A. (Massachusetts General Hospital (Boston)) ;
Steinfurt, Johannes (Heart Center University of Freiburg) ;
Rudic, Boris (University Medical Center Mannheim) ;
Loeys, Bart (University Hospital Antwerp (Bèlgica)) ;
Shoemaker, M. Ben (Vanderbilt University Medical Center, Nashville) ;
Weeke, Peter E. (Vanderbilt University Medical Center, Nashville) ;
Pfeiffer, Ryan (Masonic Medical Research Institute, Utica, NY) ;
Davies, Brianna (University of British Columbia, Vancouver) ;
Andorin, Antoine (St George's University of London) ;
Hofman, Nynke (University of Amsterdam) ;
Dagradi, Federica (Istituto Auxologico Italiano - IRCCS, Milan) ;
Pedrazzini, Matteo (Istituto Auxologico Italiano - IRCCS, Milan) ;
Tester, David J. (Mayo Clinic, Rochester) ;
Bos, J. Martijn (Mayo Clinic, Rochester) ;
Sarquella-Brugada, Georgia (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Campuzano, Óscar (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Platonov, Pyotr G. (Lund University, Sweden) ;
Stallmeyer, Birgit (University Hospital Muenster (Alemanya)) ;
Zumhagen, Sven (University Hospital Muenster (Alemanya)) ;
Nannenberg, Eline A. (University of Amsterdam) ;
Veldink, Jan (University Medical Center Utrecht) ;
van den Berg, Leonard H. (University Medical Center Utrecht) ;
Al-Chalabi, Ammar (King's College Hospital NHS Foundation Trust) ;
Shaw, Christopher E. (King's College London) ;
Shaw, Pamela J. (Istituto Auxologico Italiano - IRCCS, Milan) ;
Morrison, Karen E. (University of Southampton) ;
Andersen, Peter Munch (Ulm University, Germany) ;
Müller-Nurasyid, Martina (University Hospital of the Ludwig Maximilians University, Munich) ;
Cusi, Daniele (University of Milan) ;
Barlassina, Cristina (University of Milan) ;
Galan, Pilar (Inserm, France) ;
Lathrop, Mark (McGill University and Génome Québec Innovation Centre, Montréal) ;
Munter, Markus (McGill University and Génome Québec Innovation Centre, Montréal) ;
Werge, Thomas (The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen) ;
Ribasés Haro, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Aung, Tin (Singapore Eye Research Institute) ;
Khor, Chiea Chuen (Genome Institute of Singapore) ;
Ozaki, Mineo (Ozaki Eye Hospital, Miyazaki, Japan) ;
Lichtner, Peter (Helmholtz Zentrum München, Neuherberg, Germany) ;
Meitinger, Thomas (Helmholtz Zentrum München, Neuherberg, Germany) ;
van Tintelen, J. Peter (University of Amsterdam) ;
Hoedemaekers, Yvonne (University Medical Centre Groningen) ;
Denjoy, Isabelle (Université de Paris Inserm) ;
Leenhardt, Antoine (Université de Paris Inserm) ;
Napolitano, Carlo (ICS Maugeri - IRCCS, Pavia) ;
Shimizu, Wataru (National Cerebral and Cardiovascular Center, Osaka) ;
Schott, Jean-Jacques (Inserm, France) ;
Gourraud, Jean-Baptiste (Inserm, France) ;
Makiyama, Takeru (Kyoto University Graduate School of Medicine) ;
Ohno, Seiko (University of Milano-Bicocca) ;
Itoh, Hideki (Shiga University of Medical Science, Otsu, Japan) ;
Krahn, Andrew D. (University of British Columbia, Vancouver) ;
Antzelevitch, Charles (Lankenau Institute for Medical Research, Wynnewood, PA) ;
Roden, Dan M. (Vanderbilt University Medical Center, Nashville) ;
Saenen, Johan (University Hospital Antwerp (Bèlgica)) ;
Borggrefe, Martin (University Medical Center Mannheim) ;
Odening, Katja E. (Heart Center University of Freiburg, Germany) ;
Ellinor, Patrick T. (Massachusetts General Hospital (Boston)) ;
Tfelt-Hansen, Jacob (Copenhagen University Hospital) ;
Skinner, Jonathan R. (Starship Children's Hospital (Auckland, Nova Zelanda)) ;
van den Berg, Maarten P. (University Medical Center Groningen) ;
Olesen, Morten Salling (Copenhagen University Hospital) ;
Brugada, Josep 1958- (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Brugada, Ramon (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Makita, Naomasa (National Cerebral and Cardiovascular Center Research Institute, Osaka) ;
Breckpot, Jeroen (University Hospitals Leuven (Bèlgica)) ;
Yoshinaga, Masao (National Hospital Organization Kagoshima Medical Center, Japan) ;
Behr, Elijah R. (St George's University of London) ;
Rydberg, Annika (Umeå University, Sweden) ;
Aiba, Takeshi (National Cerebral and Cardiovascular Center, Osaka) ;
Kääb, Stefan (University Hospital of the Ludwig Maximilians University, Munich) ;
Priori, Silvia G. (ICS Maugeri - IRCCS, Pavia) ;
Guicheney, Pascale (Inserm, France) ;
Tan, Hanno L. (University of Amsterdam) ;
Newton-Cheh, Christopher (Massachusetts General Hospital (Boston)) ;
Ackerman, Michael J. (Mayo Clinic, Rochester) ;
Schwartz, Peter J. (European Reference Network for Rare, Low Prevalence, and Complex Diseases of the Heart - ERN GUARD-Heart) ;
Schulze-Bahr, Eric (University Hospital Muenster (Alemanya)) ;
Probst, Vincent (Inserm, France) ;
Horie, Minoru (Shiga University of Medical Science, Otsu, Japan) ;
Wilde, Arthur A. (University of Amsterdam) ;
Tanck, Michael W. T. (University of Amsterdam) ;
Bezzina, Connie R. (University of Amsterdam) ;
Universitat Autònoma de Barcelona
Supplemental Digital Content is available in the text. We conducted genome-wide association studies followed by transethnic meta-analysis in 1656 unrelated patients with LQTS of European or Japanese ancestry and 9890 controls to identify susceptibility single nucleotide polymorphisms. [...]
2020 - 10.1161/CIRCULATIONAHA.120.045956
Circulation, Vol. 142 (may 2020) , p. 324-338
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