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
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
Plos One
Ortega-Moreno, Laura L; Giráldez, Beatriz G BG; Soto-Insuga, Victor V; Losada-Del Pozo, Rebeca R; Rodrigo-Moreno, María M; Alarcón-Morcillo, Cristina C; Sánchez-Martín, Gema G; Díaz-Gómez, Esther E; Guerrero-López, Rosa R; Serratosa, José M JM; ,