Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Publication Date: 2022-02
Variant appearance in text: ARSL: 410G>C; Gly137Ala
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Publication Date: 2021-10-25
Variant appearance in text: ARSL: 410G>C; Gly137Ala
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.
Annals Of Internal Medicine
Vassy, Jason L JL; Christensen, Kurt D KD; Schonman, Erica F EF; Blout, Carrie L CL; Robinson, Jill O JO; Krier, Joel B JB; Diamond, Pamela M PM; Lebo, Matthew M; Machini, Kalotina K; Azzariti, Danielle R DR; Dukhovny, Dmitry D; Bates, David W DW; MacRae, Calum A CA; Murray, Michael F MF; Rehm, Heidi L HL; McGuire, Amy L AL; Green, Robert C RC; ,
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; ,