Publications:

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; ,

Publication Date: 2017-08-01

Variant appearance in text: KCNQ1: 826delT; Ser276ProfsX13

PubMed Link: 28654958

Variant Present in the following documents:

• Main text

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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; ,

Publication Date: 2014-12-14

Variant appearance in text: KCNQ1: 826delT; Ser276ProfsX13

PubMed Link: 25714468

Variant Present in the following documents:

• Main text
• 12881_2014_Article_134.pdf

View BVdb publication page