Ankala A - Search Results

1

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.

Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Knight Johnson A, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Brandt T, et al. Among authors: ankala a. Genet Med. 2020 Feb;22(2):336-344. doi: 10.1038/s41436-019-0655-2. Epub 2019 Sep 19. Genet Med. 2020. PMID: 31534211 Free article.

2

Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.

Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Johnson AK, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Brandt T, et al. Among authors: ankala a. Genet Med. 2020 Mar;22(3):670-671. doi: 10.1038/s41436-019-0725-5. Genet Med. 2020. PMID: 31844178 Free article.

3

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

Ankala A, da Silva C, Gualandi F, Ferlini A, Bean LJ, Collins C, Tanner AK, Hegde MR. Ankala A, et al. Ann Neurol. 2015 Feb;77(2):206-14. doi: 10.1002/ana.24303. Epub 2014 Dec 17. Ann Neurol. 2015. PMID: 25380242

4

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.

Xue Y, Ankala A, Wilcox WR, Hegde MR. Xue Y, et al. Among authors: ankala a. Genet Med. 2015 Jun;17(6):444-51. doi: 10.1038/gim.2014.122. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232854 Free article. Review.

5

Response to Saul.

Xue Y, Ankala A, Wilcox WR, Hegde MR. Xue Y, et al. Among authors: ankala a. Genet Med. 2015 Sep;17(9):761. doi: 10.1038/gim.2015.114. Genet Med. 2015. PMID: 26331192 Free article. No abstract available.

6

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

Mandelker D, Schmidt RJ, Ankala A, McDonald Gibson K, Bowser M, Sharma H, Duffy E, Hegde M, Santani A, Lebo M, Funke B. Mandelker D, et al. Among authors: ankala a. Genet Med. 2016 Dec;18(12):1282-1289. doi: 10.1038/gim.2016.58. Epub 2016 May 26. Genet Med. 2016. PMID: 27228465 Free article.

7

Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.

Ankala A, Jain N, Hubbard B, Alexander JJ, Shankar SP. Ankala A, et al. Am J Med Genet A. 2018 Aug;176(8):1778-1783. doi: 10.1002/ajmg.a.38855. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055036

8

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M. Nallamilli BRR, et al. Among authors: ankala a. Ann Clin Transl Neurol. 2018 Dec 1;5(12):1574-1587. doi: 10.1002/acn3.649. eCollection 2018 Dec. Ann Clin Transl Neurol. 2018. PMID: 30564623 Free PMC article.

9

Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

Valencia CA, Ankala A, Rhodenizer D, Bhide S, Littlejohn MR, Keong LM, Rutkowski A, Sparks S, Bonnemann C, Hegde M. Valencia CA, et al. Among authors: ankala a. PLoS One. 2013;8(1):e53083. doi: 10.1371/journal.pone.0053083. Epub 2013 Jan 11. PLoS One. 2013. PMID: 23326386 Free PMC article.

10

Gamut of genetic testing for neonatal care.

Ankala A, Hegde MR. Ankala A, et al. Clin Perinatol. 2015 Jun;42(2):217-26, vii. doi: 10.1016/j.clp.2015.02.001. Epub 2015 Mar 31. Clin Perinatol. 2015. PMID: 26042901 Review.

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