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Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00396-x
By:
- Wigby, Kristen M.;
- Brockman, Deanna;
- Costain, Gregory;
- Hale, Caitlin;
- Taylor, Stacie L.;
- Belmont, John;
- Bick, David;
- Dimmock, David;
- Fernbach, Susan;
- Greally, John;
- Jobanputra, Vaidehi;
- Kulkarni, Shashikant;
- Spiteri, Elizabeth;
- Taft, Ryan J.
Publication type:
Article
Clinical utility of genomic sequencing: a measurement toolkit.
Published in:
NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00164-7
By:
- Hayeems, Robin Z.;
- Dimmock, David;
- Bick, David;
- Belmont, John W.;
- Green, Robert C.;
- Lanpher, Brendan;
- Jobanputra, Vaidehi;
- Mendoza, Roberto;
- Kulkarni, Shashi;
- Grove, Megan E.;
- Taylor, Stacie L.;
- Ashley, Euan
Publication type:
Article
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Published in:
NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9
By:
- Marshall, Christian R.;
- Chowdhury, Shimul;
- Taft, Ryan J.;
- Lebo, Mathew S.;
- Buchan, Jillian G.;
- Harrison, Steven M.;
- Rowsey, Ross;
- Klee, Eric W.;
- Liu, Pengfei;
- Worthey, Elizabeth A.;
- Jobanputra, Vaidehi;
- Dimmock, David;
- Kearney, Hutton M.;
- Bick, David;
- Kulkarni, Shashikant;
- Taylor, Stacie L.;
- Belmont, John W.;
- Stavropoulos, Dimitri J.;
- Lennon, Niall J.
Publication type:
Article
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.
Published in:
Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00748-z
By:
- Marshall, Christian R.;
- Bick, David;
- Belmont, John W.;
- Taylor, Stacie L.;
- Ashley, Euan;
- Dimmock, David;
- Jobanputra, Vaidehi;
- Kearney, Hutton M.;
- Kulkarni, Shashikant;
- Rehm, Heidi
Publication type:
Article

Found: 4

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.

Clinical utility of genomic sequencing: a measurement toolkit.

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.