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Postma, Alex V; Rapp, Christina K; Knoflach, Katrin; Volk, Alexander E; Lemke, Johannes R; Ackermann, Maximilian; Regamey, Nicolas; Latzin, Philipp; Celant, Lucas; Jansen, Samara M A; Bogaard, Harm J; Ilgun, Aho; Alders, Mariëlle; van Spaendonck-Zwarts, Karin Y; Jonigk, Danny; Klein, Christoph; Gräf, Stefan; Kubisch, Christian; Houweling, Arjan C and Griese, Matthias (2023). Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension. Genetics in medicine open, 1(1) Elsevier 10.1016/j.gimo.2023.100811
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3
Gómez-Fernández, Paloma; Lopez de Lapuente Portilla, Aitzkoa; Astobiza, Ianire; Mena, Jorge; Urtasun, Andoni; Altmann, Vivian; Matesanz, Fuencisla; Otaegui, David; Urcelay, Elena; Antigüedad, Alfredo; Malhotra, Sunny; Montalban, Xavier; Castillo-Triviño, Tamara; Espino-Paisán, Laura; Aktas, Orhan; Buttmann, Mathias; Chan, Andrew; Fontaine, Bertrand; Gourraud, Pierre-Antoine; Hecker, Michael; ... (2020). The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis. Cells, 9(1) MDPI 10.3390/cells9010175
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; Wei, Zhi; Yu, Dongmei; Lee, Phil H; Turley, Patrick; Grenier-Boley, Benjamin; Chouraki, Vincent; Kamatani, Yoichiro; Berr, Claudine; ... (2018). Analysis of shared heritability in common disorders of the brain. Science, 360(6395) American Association for the Advancement of Science 10.1126/science.aap8757
Sadovnick, A Dessa; Traboulsee, Anthony L; Bernales, Cecily Q; Ross, Jay P; Forwell, Amanda L; Yee, Irene M; Guillot-Noel, Lena; Fontaine, Bertrand; Cournu-Rebeix, Isabelle; Alcina, Antonio; Fedetz, Maria; Izquierdo, Guillermo; Matesanz, Fuencisla; Hilven, Kelly; Dubois, Bénédicte; Goris, An; Astobiza, Ianire; Alloza, Iraide; Antigüedad, Alfredo; Vandenbroeck, Koen; ... (2016). Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients. G3 Genes Genomes Genetics, 6(7), pp. 2073-2079. Genetics Society of America 10.1534/g3.116.030841
