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: SCN1A: 664C>T; Arg222Ter
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.
Annals Of Medicine
Alghamdi, Mansour A MA; Al-Eitan, Laith N LN; Asiri, Ashwag A; Rababa'h, Doaa M DM; Alqahtani, Sultan A SA; Aldarami, Mohammed S MS; Alsaeedi, Manar A MA; Almuidh, Raghad S RS; Alzahrani, Abdulbari A AA; Sakah, Ahmad H AH; El Nashar, Eman Mohamad EM; Otaif, Mansour Y MY; Abdel Ghaffar, Nawal F NF
De Liso, Paola P; Pironi, Virginia V; Mastrangelo, Massimo M; Battaglia, Domenica D; Craiu, Dana D; Trivisano, Marina M; Specchio, Nicola N; Nabbout, Rima R; Vigevano, Federico F
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Frontiers In Pharmacology
Menezes, Luis Felipe Santos LFS; Sabiá Júnior, Elias Ferreira EF; Tibery, Diogo Vieira DV; Carneiro, Lilian Dos Anjos LDA; Schwartz, Elisabeth Ferroni EF
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes.
Stem Cell Reports
Frasier, Chad R CR; Zhang, Helen H; Offord, James J; Dang, Louis T LT; Auerbach, David S DS; Shi, Huilin H; Chen, Chunling C; Goldman, Alica M AM; Eckhardt, L Lee LL; Bezzerides, Vassilios J VJ; Parent, Jack M JM; Isom, Lori L LL
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Stosser, Mary Beth MB; Lindy, Amanda S AS; Butler, Elizabeth E; Retterer, Kyle K; Piccirillo-Stosser, Caitlin M CM; Richard, Gabriele G; McKnight, Dianalee A DA
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Molecular Genetics & Genomic Medicine
Djémié, Tania T; Weckhuysen, Sarah S; von Spiczak, Sarah S; Carvill, Gemma L GL; Jaehn, Johanna J; Anttonen, Anna-Kaisa AK; Brilstra, Eva E; Caglayan, Hande S HS; de Kovel, Carolien G CG; Depienne, Christel C; Gaily, Eija E; Gennaro, Elena E; Giraldez, Beatriz G BG; Gormley, Padhraig P; Guerrero-López, Rosa R; Guerrini, Renzo R; Hämäläinen, Eija E; Hartmann, Corinna C; Hernandez-Hernandez, Laura L; Hjalgrim, Helle H; Koeleman, Bobby P C BP; Leguern, Eric E; Lehesjoki, Anna-Elina AE; Lemke, Johannes R JR; Leu, Costin C; Marini, Carla C; McMahon, Jacinta M JM; Mei, Davide D; Møller, Rikke S RS; Muhle, Hiltrud H; Myers, Candace T CT; Nava, Caroline C; Serratosa, Jose M JM; Sisodiya, Sanjay M SM; Stephani, Ulrich U; Striano, Pasquale P; van Kempen, Marjan J A MJ; Verbeek, Nienke E NE; Usluer, Sunay S; Zara, Federico F; Palotie, Aarno A; Mefford, Heather C HC; Scheffer, Ingrid E IE; De Jonghe, Peter P; Helbig, Ingo I; Suls, Arvid A; ,
Publication Date: 2016-07
Variant appearance in text: SCN1A: 664C>T; Arg222*