Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: SCN4A: 3891C>A; Asn1297Lys
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.
Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Lehmann-Horn, Frank F; D'Amico, Adele A; Bertini, Enrico E; Lomonaco, Mauro M; Merlini, Luciano L; Nelson, Kevin R KR; Philippi, Heike H; Siciliano, Gabriele G; Spaans, Frank F; Jurkat-Rott, Karin K
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
Lancet (London, England)
Männikkö, Roope R; Wong, Leonie L; Tester, David J DJ; Thor, Michael G MG; Sud, Richa R; Kullmann, Dimitri M DM; Sweeney, Mary G MG; Leu, Costin C; Sisodiya, Sanjay M SM; FitzPatrick, David R DR; Evans, Margaret J MJ; Jeffrey, Iona J M IJM; Tfelt-Hansen, Jacob J; Cohen, Marta C MC; Fleming, Peter J PJ; Jaye, Amie A; Simpson, Michael A MA; Ackerman, Michael J MJ; Hanna, Michael G MG; Behr, Elijah R ER; Matthews, Emma E
The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.
Brain : A Journal Of Neurology
Matthews, E E; Fialho, D D; Tan, S V SV; Venance, S L SL; Cannon, S C SC; Sternberg, D D; Fontaine, B B; Amato, A A AA; Barohn, R J RJ; Griggs, R C RC; Hanna, M G MG; ,