Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ferdinandusse, Sacha S; McWalter, Kirsty K; Te Brinke, Heleen H; IJlst, Lodewijk L; Mooijer, Petra M PM; Ruiter, Jos P N JPN; van Lint, Alida E M AEM; Pras-Raves, Mia M; Wever, Eric E; Millan, Francisca F; Guillen Sacoto, Maria J MJ; Begtrup, Amber A; Tarnopolsky, Mark M; Brady, Lauren L; Ladda, Roger L RL; Sell, Susan L SL; Nowak, Catherine B CB; Douglas, Jessica J; Tian, Cuixia C; Ulm, Elizabeth E; Perlman, Seth S; Drack, Arlene V AV; Chong, Karen K; Martin, Nicole N; Brault, Jennifer J; Brokamp, Elly E; Toro, Camilo C; Gahl, William A WA; Macnamara, Ellen F EF; Wolfe, Lynne L; , ; Waisfisz, Quinten Q; Zwijnenburg, Petra J G PJG; Ziegler, Alban A; Barth, Magalie M; Smith, Rosemarie R; Ellingwood, Sara S; Gaebler-Spira, Deborah D; Bakhtiari, Somayeh S; Kruer, Michael C MC; van Kampen, Antoine H C AHC; Wanders, Ronald J A RJA; Waterham, Hans R HR; Cassiman, David D; Vaz, Frédéric M FM