Publications:

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: JAG1: 233G>C; Cys78Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A form of muscular dystrophy associated with pathogenic variants in JAG2.

American Journal Of Human Genetics

Coppens, Sandra S; Barnard, Alison M AM; Puusepp, Sanna S; Pajusalu, Sander S; Õunap, Katrin K; Vargas-Franco, Dorianmarie D; Bruels, Christine C CC; Donkervoort, Sandra S; Pais, Lynn L; Chao, Katherine R KR; Goodrich, Julia K JK; England, Eleina M EM; Weisburd, Ben B; Ganesh, Vijay S VS; Gudmundsson, Sanna S; O'Donnell-Luria, Anne A; Nigul, Mait M; Ilves, Pilvi P; Mohassel, Payam P; Siddique, Teepu T; Milone, Margherita M; Nicolau, Stefan S; Maroofian, Reza R; Houlden, Henry H; Hanna, Michael G MG; Quinlivan, Ros R; Beiraghi Toosi, Mehran M; Ghayoor Karimiani, Ehsan E; Costagliola, Sabine S; Deconinck, Nicolas N; Kadhim, Hazim H; Macke, Erica E; Lanpher, Brendan C BC; Klee, Eric W EW; Łusakowska, Anna A; Kostera-Pruszczyk, Anna A; Hahn, Andreas A; Schrank, Bertold B; Nishino, Ichizo I; Ogasawara, Masashi M; El Sherif, Rasha R; Stojkovic, Tanya T; Nelson, Isabelle I; Bonne, Gisèle G; Cohen, Enzo E; Boland-Augé, Anne A; Deleuze, Jean-François JF; Meng, Yao Y; Töpf, Ana A; Vilain, Catheline C; Pacak, Christina A CA; Rivera-Zengotita, Marie L ML; Bönnemann, Carsten G CG; Straub, Volker V; Handford, Penny A PA; Draper, Isabelle I; Walter, Glenn A GA; Kang, Peter B PB

Publication Date: 2021-05-06

Variant appearance in text: JAG1: Cys78Ser

PubMed Link: 33861953

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: JAG1: C78S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page