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: F8: 3144G>A; Trp1048Ter
A case for expanding carrier testing to include actionable X-linked disorders.
Clinical Case Reports
Rope, Alan F AF; Kauffman, Tia L TL; Himes, Pat P; Amendola, Laura M LM; Punj, Sumit S; Akkari, Yassmine Y; Potter, Amiee A; Davis, James V JV; Schneider, Jennifer L JL; Reiss, Jacob A JA; Gilmore, Mari J MJ; McMullen, Carmit K CK; Nickerson, Deborah A DA; Richards, C Sue CS; Jarvik, Gail P GP; Wilfond, Benjamin S BS; Goddard, Katrina A B KAB
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
American Journal Of Human Genetics
Punj, Sumit S; Akkari, Yassmine Y; Huang, Jennifer J; Yang, Fei F; Creason, Allison A; Pak, Christine C; Potter, Amiee A; Dorschner, Michael O MO; Nickerson, Deborah A DA; Robertson, Peggy D PD; Jarvik, Gail P GP; Amendola, Laura M LM; Schleit, Jennifer J; Simpson, Dana Kostiner DK; Rope, Alan F AF; Reiss, Jacob J; Kauffman, Tia T; Gilmore, Marian J MJ; Himes, Patricia P; Wilfond, Benjamin B; Goddard, Katrina A B KAB; Richards, C Sue CS
Publication Date: 2018-06-07
Variant appearance in text: F8: 3144G>A; Trp1048Ter