Tan CA - Search Results

1

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.

Winder TL, Tan CA, Klemm S, White H, Westbrook JM, Wang JZ, Entezam A, Truty R, Nussbaum RL, McNally EM, Aradhya S. Winder TL, et al. Among authors: tan ca. Neurol Genet. 2020 Mar 9;6(2):e412. doi: 10.1212/NXG.0000000000000412. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32337338 Free PMC article.

2

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.

3

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.

4

A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy.

Roggenbuck J, Rich K, Morales A, Tan CA, Eck D, King W, Vatta M, Winder T, Elsheikh B, Hershberger RE, Kissel JT. Roggenbuck J, et al. Among authors: tan ca. Mol Genet Genomic Med. 2019 Nov;7(11):e924. doi: 10.1002/mgg3.924. Epub 2019 Sep 5. Mol Genet Genomic Med. 2019. PMID: 31489791 Free PMC article.

5

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. 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

6

Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.

Rich KA, Moscarello T, Siskind C, Brock G, Tan CA, Vatta M, Winder TL, Elsheikh B, Vicini L, Tucker B, Palettas M, Hershberger RE, Kissel JT, Morales A, Roggenbuck J. Rich KA, et al. Among authors: tan ca. Mol Genet Genomic Med. 2020 Oct;8(10):e1460. doi: 10.1002/mgg3.1460. Epub 2020 Aug 20. Mol Genet Genomic Med. 2020. PMID: 32815318 Free PMC article.

7

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: tan ca. Front Neurol. 2021 May 6;12:663911. doi: 10.3389/fneur.2021.663911. eCollection 2021. Front Neurol. 2021. PMID: 34025568 Free PMC article.

8

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR, Stafford DA, Tan CA, Silvis MR, Jamieson K, Keyser A, Nunez PAC, Nicoludis JM, Manders T, Fresard L, Kobayashi Y, Araya CL, Aradhya S, Johnson B, Nykamp K, Reuter JA. Padigepati SR, et al. Among authors: tan ca. Hum Genet. 2024 Aug;143(8):995-1004. doi: 10.1007/s00439-024-02691-0. Epub 2024 Aug 1. Hum Genet. 2024. PMID: 39085601 Free PMC article.

9

Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy.

Roggenbuck J, Morales A, Ellis CA, Dratch L, Stetler M, Tan CA, Bucknor B, Hatchell KE, Aradhya S, Esplin ED, Ting YL, Scherer SS. Roggenbuck J, et al. Among authors: tan ca. J Peripher Nerv Syst. 2024 Sep;29(3):363-367. doi: 10.1111/jns.12651. Epub 2024 Aug 14. J Peripher Nerv Syst. 2024. PMID: 39140136

10

An Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report.

Cohen SA, Tan CA, Bisson R. Cohen SA, et al. Among authors: tan ca. Front Genet. 2016 Mar 16;7:36. doi: 10.3389/fgene.2016.00036. eCollection 2016. Front Genet. 2016. PMID: 27014339 Free PMC article.

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