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: JAGN1: 35_43del; Thr12_Gly14del
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.
Nature Genetics
Boztug, Kaan K; Järvinen, Päivi M PM; Salzer, Elisabeth E; Racek, Tomas T; Mönch, Sebastian S; Garncarz, Wojciech W; Gertz, E Michael EM; Schäffer, Alejandro A AA; Antonopoulos, Aristotelis A; Haslam, Stuart M SM; Schieck, Lena L; Puchałka, Jacek J; Diestelhorst, Jana J; Appaswamy, Giridharan G; Lescoeur, Brigitte B; Giambruno, Roberto R; Bigenzahn, Johannes W JW; Elling, Ulrich U; Pfeifer, Dietmar D; Conde, Cecilia Domínguez CD; Albert, Michael H MH; Welte, Karl K; Brandes, Gudrun G; Sherkat, Roya R; van der Werff Ten Bosch, Jutte J; Rezaei, Nima N; Etzioni, Amos A; Bellanné-Chantelot, Christine C; Superti-Furga, Giulio G; Penninger, Josef M JM; Bennett, Keiryn L KL; von Blume, Julia J; Dell, Anne A; Donadieu, Jean J; Klein, Christoph C