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: FBN1: 3959G>C; Cys1320Ser
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.
Orphanet Journal Of Rare Diseases
Stengl, Roland R; Bors, András A; Ágg, Bence B; Pólos, Miklós M; Matyas, Gabor G; Molnár, Mária Judit MJ; Fekete, Bálint B; Csabán, Dóra D; Andrikovics, Hajnalka H; Merkely, Béla B; Radovits, Tamás T; Szabolcs, Zoltán Z; Benke, Kálmán K
Publication Date: 2020-10-15
Variant appearance in text: FBN1: 3959G>C; Cys1320Ser
The molecular genetics of Marfan syndrome and related disorders.
Journal Of Medical Genetics
Robinson, P N PN; Arteaga-Solis, E E; Baldock, C C; Collod-Béroud, G G; Booms, P P; De Paepe, A A; Dietz, H C HC; Guo, G G; Handford, P A PA; Judge, D P DP; Kielty, C M CM; Loeys, B B; Milewicz, D M DM; Ney, A A; Ramirez, F F; Reinhardt, D P DP; Tiedemann, K K; Whiteman, P P; Godfrey, M M