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: CFTR: 3947G>A; Trp1316Ter
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
Bmc Medical Genetics
McLaughlin, Heather M HM; Ceyhan-Birsoy, Ozge O; Christensen, Kurt D KD; Kohane, Isaac S IS; Krier, Joel J; Lane, William J WJ; Lautenbach, Denise D; Lebo, Matthew S MS; Machini, Kalotina K; MacRae, Calum A CA; Azzariti, Danielle R DR; Murray, Michael F MF; Seidman, Christine E CE; Vassy, Jason L JL; Green, Robert C RC; Rehm, Heidi L HL; ,
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.
Trials
Vassy, Jason L JL; Lautenbach, Denise M DM; McLaughlin, Heather M HM; Kong, Sek Won SW; Christensen, Kurt D KD; Krier, Joel J; Kohane, Isaac S IS; Feuerman, Lindsay Z LZ; Blumenthal-Barby, Jennifer J; Roberts, J Scott JS; Lehmann, Lisa Soleymani LS; Ho, Carolyn Y CY; Ubel, Peter A PA; MacRae, Calum A CA; Seidman, Christine E CE; Murray, Michael F MF; McGuire, Amy L AL; Rehm, Heidi L HL; Green, Robert C RC; ,
The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients.
Plos One
Roth, Eva K EK; Hirtz, Stephanie S; Duerr, Julia J; Wenning, Daniel D; Eichler, Irmgard I; Seydewitz, Hans H HH; Amaral, Margarida D MD; Mall, Marcus A MA
Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.
The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Rappahahn, Krista K; Pique, Lynn L; Kharrazi, Martin M; Wong, Lee-Jun LJ