Goh DL - Search Results

1

Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance.

Loscalzo ML, Goh DL, Loeys B, Kent KC, Spevak PJ, Dietz HC. Loscalzo ML, et al. Among authors: goh dl. Am J Med Genet A. 2007 Sep 1;143A(17):1960-7. doi: 10.1002/ajmg.a.31872. Am J Med Genet A. 2007. PMID: 17676603

2

Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm.

Kent KC, Crenshaw ML, Goh DL, Dietz HC. Kent KC, et al. Among authors: goh dl. J Thorac Cardiovasc Surg. 2013 Jul;146(1):158-165.e1. doi: 10.1016/j.jtcvs.2012.09.060. Epub 2012 Oct 23. J Thorac Cardiovasc Surg. 2013. PMID: 23102684 Free PMC article.

3

Targeting heterozygous dominant negative variant of KCNA2 using Gapmer ASO for the treatment of drug-resistant epilepsy.

Huang H, Ma DR, Chan DWS, Ngoh ASF, Yu D, Ng SJ, En Chua JJ, Tan EK, Chin HL, Goh DLM, Soong TW. Huang H, et al. Among authors: goh dlm. Mol Ther Nucleic Acids. 2024 Aug 27;35(4):102316. doi: 10.1016/j.omtn.2024.102316. eCollection 2024 Dec 10. Mol Ther Nucleic Acids. 2024. PMID: 39310880 Free PMC article.

4

Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.

Chin HL, Benton MC, Yang L, Poon KS, Tan KML, Jamuar SS, Foo R, Law HY, Goh DL, Chong SS, de Sessions PF. Chin HL, et al. Among authors: goh dl. Mol Genet Genomic Med. 2024 Jan;12(1):e2285. doi: 10.1002/mgg3.2285. Epub 2023 Sep 23. Mol Genet Genomic Med. 2024. PMID: 37740604 Free PMC article.

5

Non-immune hydrops fetalis caused by Diamond-Blackfan anaemia and a mutation of the RPL15 gene.

Dashraath P, Lim KMX, Chin HL, Sidek A, Lian DWQ, Gosavi A, Koh PL, Biswas A, Goh DLM. Dashraath P, et al. Among authors: goh dlm. Lancet. 2023 Jul 8;402(10396):141. doi: 10.1016/S0140-6736(23)01141-8. Lancet. 2023. PMID: 37422302 No abstract available.

6

Pitfalls in clinical genetics.

Chin HL, Goh DLM. Chin HL, et al. Among authors: goh dlm. Singapore Med J. 2023 Jan;64(1):53-58. doi: 10.4103/singaporemedj.SMJ-2021-329. Singapore Med J. 2023. PMID: 36722517 Free PMC article. Review.

7

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH, Bylstra Y, Teo JX, Kuan JL, Bertin N, Gonzalez-Porta M, Hebrard M, Tirado-Magallanes R, Tan JHJ, Jeyakani J, Li Z, Chai JF, Chong YS, Davila S, Goh LL, Lee ES, Wong E, Wong TY; SG10K_Health Consortium; Prabhakar S, Liu J, Cheng CY, Eisenhaber B, Karnani N, Leong KP, Sim X, Yeo KK, Chambers JC, Tai ES, Tan P, Jamuar SS, Ngeow J, Lim WK. Chan SH, et al. Nat Commun. 2022 Nov 5;13(1):6694. doi: 10.1038/s41467-022-34116-9. Nat Commun. 2022. PMID: 36335097 Free PMC article.

8

Using gene panels in the diagnosis of neuromuscular disorders: A mini-review.

Ng KWP, Chin HL, Chin AXY, Goh DL. Ng KWP, et al. Among authors: goh dl. Front Neurol. 2022 Oct 12;13:997551. doi: 10.3389/fneur.2022.997551. eCollection 2022. Front Neurol. 2022. PMID: 36313509 Free PMC article. Review.

9

Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort.

Nazeha N, Koh AL, Kam S, Lim JY, Goh DLM, Jamuar SS, Graves N. Nazeha N, et al. Among authors: goh dlm. Am J Med Genet A. 2022 Dec;188(12):3482-3491. doi: 10.1002/ajmg.a.62974. Epub 2022 Sep 25. Am J Med Genet A. 2022. PMID: 36156406

10

Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore.

Loh J, Ong PY, Goh DLM, Puhaindran ME, Vellayappan BA, Ow SGW, Chan G, Lee SC. Loh J, et al. Among authors: goh dlm. Hered Cancer Clin Pract. 2022 Jun 13;20(1):23. doi: 10.1186/s13053-022-00230-4. Hered Cancer Clin Pract. 2022. PMID: 35698239 Free PMC article.

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