Hegde M - Search Results

1

Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status.

Tanner AK, Valencia CA, Rhodenizer D, Espirages M, Da Silva C, Borsuk L, Caldwell S, Gregg E, Grimes E, Lichanska AM, Morris L, Purkayastha A, Weslowski B, Tibbetts C, Lorence MC, Hegde M. Tanner AK, et al. Among authors: hegde m. J Mol Diagn. 2014 May;16(3):350-60. doi: 10.1016/j.jmoldx.2013.12.003. Epub 2014 Feb 8. J Mol Diagn. 2014. PMID: 24517888 Free article.

2

Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.

Valencia CA, Rhodenizer D, Bhide S, Chin E, Littlejohn MR, Keong LM, Rutkowski A, Bonnemann C, Hegde M. Valencia CA, et al. Among authors: hegde m. J Mol Diagn. 2012 May-Jun;14(3):233-46. doi: 10.1016/j.jmoldx.2012.01.009. Epub 2012 Mar 16. J Mol Diagn. 2012. PMID: 22426012 Free PMC article.

3

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: hegde m. PLoS One. 2013;8(1):e53083. doi: 10.1371/journal.pone.0053083. Epub 2013 Jan 11. PLoS One. 2013. PMID: 23326386 Free PMC article.

4

Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.

Tanner AK, Chin EL, Duffner PK, Hegde M. Tanner AK, et al. Among authors: hegde m. Orphanet J Rare Dis. 2012 Jun 15;7:38. doi: 10.1186/1750-1172-7-38. Orphanet J Rare Dis. 2012. PMID: 22704718 Free PMC article.

5

Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.

Chin EL, da Silva C, Hegde M. Chin EL, et al. Among authors: hegde m. BMC Genet. 2013 Feb 19;14:6. doi: 10.1186/1471-2156-14-6. BMC Genet. 2013. PMID: 23418865 Free PMC article.

6

Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.

Hegde M, Bale S, Bayrak-Toydemir P, Gibson J, Jeng LJ, Joseph L, Laser J, Lubin IM, Miller CE, Ross LF, Rothberg PG, Tanner AK, Vitazka P, Mao R. Hegde M, et al. J Mol Diagn. 2015 Mar;17(2):107-17. doi: 10.1016/j.jmoldx.2014.10.004. Epub 2015 Feb 12. J Mol Diagn. 2015. PMID: 25684271 Free PMC article.

7

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

8

Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray.

Chaubey A, Shenoy S, Mathur A, Ma Z, Valencia CA, Reddy Nallamilli BR, Szekeres E Jr, Stansberry L, Liu R, Hegde MR. Chaubey A, et al. J Mol Diagn. 2020 Jun;22(6):823-840. doi: 10.1016/j.jmoldx.2020.03.008. Epub 2020 Apr 25. J Mol Diagn. 2020. PMID: 32344035 Free article.

9

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.

Jones MA, Bhide S, Chin E, Ng BG, Rhodenizer D, Zhang VW, Sun JJ, Tanner A, Freeze HH, Hegde MR. Jones MA, et al. Genet Med. 2011 Nov;13(11):921-32. doi: 10.1097/GIM.0b013e318226fbf2. Genet Med. 2011. PMID: 21811164 Free PMC article.

10

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.

Jones MA, Rhodenizer D, da Silva C, Huff IJ, Keong L, Bean LJ, Coffee B, Collins C, Tanner AK, He M, Hegde MR. Jones MA, et al. Among authors: hegde mr. Mol Genet Metab. 2013 Sep-Oct;110(1-2):78-85. doi: 10.1016/j.ymgme.2013.05.012. Epub 2013 May 28. Mol Genet Metab. 2013. PMID: 23806237

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