Winder TL - 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. 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

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

3

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: winder tl. 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

4

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.

5

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.

6

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. 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.

7

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: winder tl. 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.

8

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia.

Robbins NM, Ozmore JR, Winder TL, Gonzalez-Alegre P, Bardakjian TM. Robbins NM, et al. Among authors: winder tl. Case Rep Neurol Med. 2020 Aug 29;2020:7219514. doi: 10.1155/2020/7219514. eCollection 2020. Case Rep Neurol Med. 2020. PMID: 32908740 Free PMC article.

9

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

Bharucha-Goebel DX, Neil E, Donkervoort S, Dastgir J, Wiggs E, Winder TL, Moore SA, Iannaccone ST, Bönnemann CG. Bharucha-Goebel DX, et al. Among authors: winder tl. Neurology. 2015 Apr 7;84(14):1495-7. doi: 10.1212/WNL.0000000000001440. Epub 2015 Mar 13. Neurology. 2015. PMID: 25770200 Free PMC article. No abstract available.

10

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.

Morales A, Ing A, Antolik C, Austin-Tse C, Baudhuin LM, Bronicki L, Cirino A, Hawley MH, Fietz M, Garcia J, Ho C, Ingles J, Jarinova O, Johnston T, Kelly MA, Kurtz CL, Lebo M, Macaya D, Mahanta L, Maleszewski J, Manrai AK, Murray M, Richard G, Semsarian C, Thomson KL, Winder T, Ware JS, Hershberger RE, Funke BH, Vatta M; ClinGen Cardiovascular Clinical Domain Working Group; Cardiomyopathy Variant Curation Expert Panel. Morales A, et al. J Mol Diagn. 2021 May;23(5):589-598. doi: 10.1016/j.jmoldx.2021.01.014. Epub 2021 Feb 22. J Mol Diagn. 2021. PMID: 33631351 Free PMC article.

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