Chin E - Search Results

1

DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.

Johnson R, Otway R, Chin E, Horvat C, Ohanian M, Wilcox JAL, Su Z, Prestes P, Smolnikov A, Soka M, Guo G, Rath E, Chakravorty S, Chrzanowski L, Hayward CS, Keogh AM, Macdonald PS, Giannoulatou E, Chang ACY, Oates EC, Charchar F, Seidman JG, Seidman CE, Hegde M, Fatkin D. Johnson R, et al. Among authors: chin e. Circ Genom Precis Med. 2023 Oct;16(5):421-430. doi: 10.1161/CIRCGEN.123.004221. Epub 2023 Sep 6. Circ Genom Precis Med. 2023. PMID: 37671549 Free PMC article.

2

Microarray-based mutation detection in the dystrophin gene.

Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME. Hegde MR, et al. Among authors: chin el. Hum Mutat. 2008 Sep;29(9):1091-9. doi: 10.1002/humu.20831. Hum Mutat. 2008. PMID: 18663755 Free PMC article.

3

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications.

Tayeh MK, Chin EL, Miller VR, Bean LJ, Coffee B, Hegde M. Tayeh MK, et al. Genet Med. 2009 Apr;11(4):232-40. doi: 10.1097/GIM.0b013e318195e191. Genet Med. 2009. PMID: 19282776 Free article.

4

A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.

Hjelm LN, Chin EL, Hegde MR, Coffee BW, Bean LJ. Hjelm LN, et al. J Mol Diagn. 2010 Sep;12(5):607-10. doi: 10.2353/jmoldx.2010.100011. Epub 2010 Jul 15. J Mol Diagn. 2010. PMID: 20639189 Free PMC article.

5

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

6

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: chin e. 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.

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: chin e. 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

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. 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.

9

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.

10

Detection limit of intragenic deletions with targeted array comparative genomic hybridization.

Askree SH, Chin EL, Bean LH, Coffee B, Tanner A, Hegde M. Askree SH, et al. BMC Genet. 2013 Dec 5;14:116. doi: 10.1186/1471-2156-14-116. BMC Genet. 2013. PMID: 24304607 Free PMC article.

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