Hegde MR - Search Results

1

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.

Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR. Jones MA, et al. Among authors: hegde mr. Am J Hum Genet. 2012 Feb 10;90(2):363-8. doi: 10.1016/j.ajhg.2011.12.024. Epub 2012 Feb 2. Am J Hum Genet. 2012. PMID: 22305527 Free PMC article.

2

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. Among authors: hegde mr. Genet Med. 2011 Nov;13(11):921-32. doi: 10.1097/GIM.0b013e318226fbf2. Genet Med. 2011. PMID: 21811164 Free PMC article.

3

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

4

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium; Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Enns GM, et al. Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20. Genet Med. 2014. PMID: 24651605 Free PMC article.

5

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.

Lieu MT, Ng BG, Rush JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY. Lieu MT, et al. Mol Genet Metab. 2013 Dec;110(4):484-9. doi: 10.1016/j.ymgme.2013.09.016. Epub 2013 Oct 4. Mol Genet Metab. 2013. PMID: 24144945 Free PMC article.

6

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.

Zhang W, James PM, Ng BG, Li X, Xia B, Rong J, Asif G, Raymond K, Jones MA, Hegde M, Ju T, Cummings RD, Clarkson K, Wood T, Boerkoel CF, Freeze HH, He M. Zhang W, et al. Clin Chem. 2016 Jan;62(1):208-17. doi: 10.1373/clinchem.2015.243279. Epub 2015 Oct 1. Clin Chem. 2016. PMID: 26430078 Free PMC article.

7

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.

8

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. BMC Genet. 2013 Feb 19;14:6. doi: 10.1186/1471-2156-14-6. BMC Genet. 2013. PMID: 23418865 Free PMC article.

9

Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.

Chin E, Bean L, Coffee B, Hegde MR. Chin E, et al. Among authors: hegde mr. Hum Genet. 2009 Aug;126(2):329. doi: 10.1007/s00439-009-0717-7. Hum Genet. 2009. PMID: 19644708 No abstract available.

10

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH. Ng BG, et al. Among authors: hegde mr. Am J Hum Genet. 2012 Apr 6;90(4):685-8. doi: 10.1016/j.ajhg.2012.02.010. Epub 2012 Mar 22. Am J Hum Genet. 2012. PMID: 22444671 Free PMC article.

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