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: EP300: 6574_6585del; Gln2192_Gln2195del
Targeted genomic analysis of cutaneous T cell lymphomas identifies a subset with aggressive clinicopathological features.
Blood Cancer Journal
Argyropoulos, Kimon V KV; Pulitzer, Melissa M; Maura, Francesco F; Mohanty, Abhinita A; Mondello, Patrizia P; Horwitz, Steven M SM; Myskowski, Patricia P; Moskowitz, Alison A; Dogan, Ahmet A; Querfeld, Christiane C; Rapaport, Franck F; Siakantaris, Marina M; Louis, Peter C PC; Galasso, Natasha N; van den Brink, Marcel R M MRM; Palomba, M Lia ML
Publication Date: 2020-11-09
Variant appearance in text: EP300: 6567_6578delGCAACAGCAGCA; Q2192_Q2195del
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Human Mutation
Fieremans, Nathalie N; Van Esch, Hilde H; Holvoet, Maureen M; Van Goethem, Gert G; Devriendt, Koenraad K; Rosello, Monica M; Mayo, Sonia S; Martinez, Francisco F; Jhangiani, Shalini S; Muzny, Donna M DM; Gibbs, Richard A RA; Lupski, James R JR; Vermeesch, Joris R JR; Marynen, Peter P; Froyen, Guy G