Hegde MR - Search Results

1

A homozygous mutation in MSH6 causes Turcot syndrome.

Hegde MR, Chong B, Blazo ME, Chin LH, Ward PA, Chintagumpala MM, Kim JY, Plon SE, Richards CS. Hegde MR, et al. Clin Cancer Res. 2005 Jul 1;11(13):4689-93. doi: 10.1158/1078-0432.CCR-04-2025. Clin Cancer Res. 2005. PMID: 16000562

2

Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.

Hegde M, Blazo M, Chong B, Prior T, Richards C. Hegde M, et al. J Mol Diagn. 2005 Oct;7(4):525-34. doi: 10.1016/S1525-1578(10)60584-3. J Mol Diagn. 2005. PMID: 16237223 Free PMC article.

3

Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.

Wu G, Wu W, Hegde M, Fawkner M, Chong B, Love D, Su LK, Lynch P, Snow K, Richards CS. Wu G, et al. Genet Test. 2001 Winter;5(4):281-90. doi: 10.1089/109065701753617408. Genet Test. 2001. PMID: 11960572

4

Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol.

Hegde M, Lewis RA, Richards CS. Hegde M, et al. Genet Test. 2002 Spring;6(1):7-14. doi: 10.1089/109065702760093852. Genet Test. 2002. PMID: 12180081

5

Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome.

Wangler MF, Chavan R, Hicks MJ, Nuchtern JG, Hegde M, Plon SE, Thompson PA. Wangler MF, et al. J Pediatr Hematol Oncol. 2013 May;35(4):323-8. doi: 10.1097/MPH.0b013e318282db11. J Pediatr Hematol Oncol. 2013. PMID: 23426006 Free PMC article.

6

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

Chong B, Hegde M, Fawkner M, Simonet S, Cassinelli H, Coker M, Kanis J, Seidel J, Tau C, Tüysüz B, Yüksel B, Love D; International Hyperphosphatasia Collaborative Group. Chong B, et al. J Bone Miner Res. 2003 Dec;18(12):2095-104. doi: 10.1359/jbmr.2003.18.12.2095. J Bone Miner Res. 2003. PMID: 14672344 Free article.

7

Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.

Richards CS, Palomaki GE, Hegde M. Richards CS, et al. Genet Med. 2016 Dec;18(12):1290-1294. doi: 10.1038/gim.2016.59. Epub 2016 Jun 2. Genet Med. 2016. PMID: 27253733 Free article.

8

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. O'Daniel JM, et al. Genet Med. 2017 May;19(5):575-582. doi: 10.1038/gim.2016.152. Epub 2016 Nov 3. Genet Med. 2017. PMID: 27811861 Free PMC article.

9

An Educational Assessment of Evidence Used for Variant Classification: A Report of the Association for Molecular Pathology.

Lyon E, Temple-Smolkin RL, Hegde M, Gastier-Foster JM, Palomaki GE, Richards CS. Lyon E, et al. J Mol Diagn. 2022 Jun;24(6):555-565. doi: 10.1016/j.jmoldx.2021.12.014. Epub 2022 Apr 13. J Mol Diagn. 2022. PMID: 35429647 Free article. Review.

10

Hierarchical mutation screening protocol for the BRCA1 gene.

Hegde MR, Chong B, Fawkner MJ, Leary J, Shelling AN, Culling B, Winship I, Love DR. Hegde MR, et al. Hum Mutat. 2000 Nov;16(5):422-30. doi: 10.1002/1098-1004(200011)16:5<422::AID-HUMU7>3.0.CO;2-3. Hum Mutat. 2000. PMID: 11058900

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