Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
American Journal Of Human Genetics
Galer, Peter D PD; Ganesan, Shiva S; Lewis-Smith, David D; McKeown, Sarah E SE; Pendziwiat, Manuela M; Helbig, Katherine L KL; Ellis, Colin A CA; Rademacher, Annika A; Smith, Lacey L; Poduri, Annapurna A; Seiffert, Simone S; von Spiczak, Sarah S; Muhle, Hiltrud H; van Baalen, Andreas A; , ; , ; , ; , ; Thomas, Rhys H RH; Krause, Roland R; Weber, Yvonne Y; Helbig, Ingo I
Publication Date: 2020-10-01
Variant appearance in text: SCN1A: E1147*; rs794726733
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: 3439G>T; Glu1147*