Chin E - Search Results

1

At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.

Balciuniene J, Liu R, Bean L, Guo F, Nallamilli BRR, Guruju N, Chen-Deutsch X, Yousaf R, Fura K, Chin E, Mathur A, Ma Z, Carmichael J, da Silva C, Collins C, Hegde M. Balciuniene J, et al. Among authors: chin e. JAMA Netw Open. 2023 Jul 3;6(7):e2326445. doi: 10.1001/jamanetworkopen.2023.26445. JAMA Netw Open. 2023. PMID: 37523181 Free PMC article.

2

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.

3

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

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

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

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.

6

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.

7

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.

8

Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology.

Gormus U, Chaubey A, Shenoy S, Wong YW, Chan LY, Choo BP, Oraha L, Gousseva A, Persson F, Prensky L, Chin E, Hegde M. Gormus U, et al. Among authors: chin e. Curr Issues Mol Biol. 2021 Aug 17;43(2):958-964. doi: 10.3390/cimb43020068. Curr Issues Mol Biol. 2021. PMID: 34449543 Free PMC article.

9

Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test.

Guo F, Liu R, Pan Y, Collins C, Bean L, Ma Z, Mathur A, Da Silva C, Nallamilli B, Guruju N, Chen-Deutsch X, Yousaf R, Chin E, Balciuniene J, Hegde M. Guo F, et al. Among authors: chin e. Genet Med. 2024 Jan;26(1):100995. doi: 10.1016/j.gim.2023.100995. Epub 2023 Oct 12. Genet Med. 2024. PMID: 37838930

10

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.

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