Hegde MR - Search Results

1

Shen JJ, Wortmann SB, Kluijtmans LAJ, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. Shen JJ, et al. Among authors: hegde mr. Genet Med. 2021 Apr;23(4):793-794. doi: 10.1038/s41436-020-01055-z. Epub 2021 Jan 8. Genet Med. 2021. PMID: 33420347 Free article. No abstract available.

2

The role of clinical response to treatment in determining pathogenicity of genomic variants.

Shen JJ, Wortmann SB, de Boer L, Kluijtmans LAJ, Huigen MCDG, Koch J, Ross S, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. Shen JJ, et al. Among authors: hegde mr. Genet Med. 2021 Mar;23(3):581-585. doi: 10.1038/s41436-020-00996-9. Epub 2020 Oct 22. Genet Med. 2021. PMID: 33087887 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. Among authors: hegde mr. Ann Neurol. 2015 Feb;77(2):206-14. doi: 10.1002/ana.24303. Epub 2014 Dec 17. Ann Neurol. 2015. PMID: 25380242

4

Response to Saul.

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

5

Response to Biesecker and Harrison.

Richards CS, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG/AMP Interpretation of Sequence Variants Work Group 2015. Richards CS, et al. Genet Med. 2018 Dec;20(12):1689-1690. doi: 10.1038/gim.2018.43. Genet Med. 2018. PMID: 29543230 Free article. No abstract available.

6

Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Mao R, Krautscheid P, Graham RP, Ganguly A, Shankar S, Ferber M, Hegde M; ACMG Laboratory Quality Assurance Committee. Mao R, et al. Genet Med. 2021 Oct;23(10):1807-1817. doi: 10.1038/s41436-021-01207-9. Epub 2021 Jun 17. Genet Med. 2021. PMID: 34140662 Free article.

7

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: hegde mr. 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.

8

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

9

Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.

Narravula A, Garber KB, Askree SH, Hegde M, Hall PL. Narravula A, et al. Genet Med. 2017 Jan;19(1):77-82. doi: 10.1038/gim.2016.67. Epub 2016 Jun 16. Genet Med. 2017. PMID: 27308838 Free article.

10

The virtual diagnostic laboratory: a new way of teaching undergraduate medical students about genetic testing.

Bean LJ, Fridovich-Keil J, Hegde M, Rudd MK, Garber KB. Bean LJ, et al. Genet Med. 2011 Nov;13(11):973-7. doi: 10.1097/GIM.0b013e318225ac13. Genet Med. 2011. PMID: 21811165 Free article.

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