Westbrook MJ - Search Results

1

Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders.

Tan CA, Westbrook MJ, Truty R, Kvitek DJ, Kennemer M, Winder TL, Shieh PB. Tan CA, et al. Among authors: westbrook mj. Genet Test Mol Biomarkers. 2020 Oct;24(10):616-624. doi: 10.1089/gtmb.2019.0282. Epub 2020 Jul 23. Genet Test Mol Biomarkers. 2020. PMID: 32721234

2

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.

Bowen BM, Truty R, Aradhya S, Bristow SL, Johnson BA, Morales A, Tan CA, Westbrook MJ, Winder TL, Chavez JC. Bowen BM, et al. Among authors: westbrook mj. Front Neurol. 2021 May 6;12:663911. doi: 10.3389/fneur.2021.663911. eCollection 2021. Front Neurol. 2021. PMID: 34025568 Free PMC article.

3

Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.

McKnight D, Bristow SL, Truty RM, Morales A, Stetler M, Westbrook MJ, Robinson K, Riethmaier D, Borlot F, Kellogg M, Hwang ST, Berg A, Aradhya S. McKnight D, et al. Among authors: westbrook mj. Neurol Genet. 2021 Dec 16;8(1):e650. doi: 10.1212/NXG.0000000000000650. eCollection 2022 Feb. Neurol Genet. 2021. PMID: 34926809 Free PMC article.

4

Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.

Tan CA, Rabideau M, Blevins A, Westbrook MJ, Ekstein T, Nykamp K, Deucher A, Harper A, Demmer L. Tan CA, et al. Among authors: westbrook mj. Am J Med Genet A. 2016 Jun;170(6):1580-4. doi: 10.1002/ajmg.a.37611. Epub 2016 Mar 8. Am J Med Genet A. 2016. PMID: 26955893 Review.

5

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S. Nykamp K, et al. Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Genet Med. 2017. PMID: 28492532 Free PMC article.

6

Correction: Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S. Nykamp K, et al. Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9. Genet Med. 2020. PMID: 31346256 Free PMC article.

7

Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.

Brothers KB, East KM, Kelley WV, Wright MF, Westbrook MJ, Rich CA, Bowling KM, Lose EJ, Bebin EM, Simmons S, Myers JA, Barsh G, Myers RM, Cooper GM, Pulley JM, Rothstein MA, Clayton EW. Brothers KB, et al. Among authors: westbrook mj. Genet Med. 2017 Mar;19(3):337-344. doi: 10.1038/gim.2016.110. Epub 2016 Aug 25. Genet Med. 2017. PMID: 27561086 Free PMC article.

8

Patient awareness and approval for an opt-out genomic biorepository.

Brothers KB, Westbrook MJ, Wright MF, Myers JA, Morrison DR, Madison JL, Pulley JM, Clayton EW. Brothers KB, et al. Among authors: westbrook mj. Per Med. 2013 Jun;10(4):10.2217/pme.13.34. doi: 10.2217/pme.13.34. Per Med. 2013. PMID: 24416062 Free PMC article.

9

Premetazoan genome evolution and the regulation of cell differentiation in the choanoflagellate Salpingoeca rosetta.

Fairclough SR, Chen Z, Kramer E, Zeng Q, Young S, Robertson HM, Begovic E, Richter DJ, Russ C, Westbrook MJ, Manning G, Lang BF, Haas B, Nusbaum C, King N. Fairclough SR, et al. Among authors: westbrook mj. Genome Biol. 2013 Feb 18;14(2):R15. doi: 10.1186/gb-2013-14-2-r15. Genome Biol. 2013. PMID: 23419129 Free PMC article.

10

Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing.

Westbrook MJ, Wright MF, Van Driest SL, McGregor TL, Denny JC, Zuvich RL, Clayton EW, Brothers KB. Westbrook MJ, et al. Genet Med. 2013 May;15(5):325-31. doi: 10.1038/gim.2012.147. Epub 2012 Nov 29. Genet Med. 2013. PMID: 23196672 Free PMC article. Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

13 results

Search Page

Filters