Ng IS - Search Results

1

De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability.

Brett MS, Ng IS, Lim EC, Yong MH, Li Z, Lai A, Tan EC. Brett MS, et al. Among authors: ng is. Gene. 2013 Mar 15;517(1):82-8. doi: 10.1016/j.gene.2012.12.082. Epub 2013 Jan 11. Gene. 2013. PMID: 23313878

2

Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.

Yap CS, Jamuar SS, Lai AHM, Tan ES, Ng I, Ting TW, Tan EC. Yap CS, et al. Gene. 2020 Mar 20;731:144360. doi: 10.1016/j.gene.2020.144360. Epub 2020 Jan 11. Gene. 2020. PMID: 31935506

3

Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.

Brett M, McPherson J, Zang ZJ, Lai A, Tan ES, Ng I, Ong LC, Cham B, Tan P, Rozen S, Tan EC. Brett M, et al. PLoS One. 2014 Apr 1;9(4):e93409. doi: 10.1371/journal.pone.0093409. eCollection 2014. PLoS One. 2014. PMID: 24690944 Free PMC article.

4

De novo trisomy 12p in twin girls with different levels of mosaicism.

Lim EC, Ng IS, Yong MH, Yon HY, Brett MS, Tan EC. Lim EC, et al. Among authors: ng is. Am J Med Genet A. 2013 Jul;161A(7):1702-5. doi: 10.1002/ajmg.a.35943. Epub 2013 May 17. Am J Med Genet A. 2013. PMID: 23686734

5

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.

Lim EC, Brett M, Lai AH, Lee SP, Tan ES, Jamuar SS, Ng IS, Tan EC. Lim EC, et al. Among authors: ng is. Hum Genomics. 2015 Dec 14;9:33. doi: 10.1186/s40246-015-0055-x. Hum Genomics. 2015. PMID: 26666243 Free PMC article.

6

Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes.

Wei H, Lai A, Tan ES, Koh MJA, Ng I, Ting TW, Thomas T, Cham B, Lim JY, Kam S, Goh CYJ, Lin G, Brett M, Chan D, Jamuar SS, Tan EC. Wei H, et al. Arch Dis Child. 2021 Jan;106(1):38-43. doi: 10.1136/archdischild-2020-319177. Epub 2020 Sep 25. Arch Dis Child. 2021. PMID: 32978145

7

The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.

Koh AL, Tan ES, Brett MS, Lai AHM, Jamuar SS, Ng I, Tan EC. Koh AL, et al. Mol Genet Genomic Med. 2019 Apr;7(4):e00581. doi: 10.1002/mgg3.581. Epub 2019 Feb 19. Mol Genet Genomic Med. 2019. PMID: 30784236 Free PMC article.

8

Additional individuals with CHD7 variants in Chinese and other southeast Asian patients.

Wei H, Tan ES, Jamuar S, Lai AHM, Ng I, Tan EC. Wei H, et al. Am J Med Genet A. 2020 Oct;182(10):2461-2465. doi: 10.1002/ajmg.a.61798. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 32804436 No abstract available.

9

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.

Bhatia NS, Lim JY, Bonnard C, Kuan JL, Brett M, Wei H, Cham B, Chin H, Bosso-Lefevre C, Dharuman P, Escande-Beillard N, Devasia AG, Goh CYJ, Kam S, Liew WK, Liew WK, Lin G, Jain K, Ng AY, Subramanian D, Xie M, Tan YM, Tawari NR, Tiang Z, Ting TW, Tohari S, Tong CK, Lezhava A, Ng SB, Law HY, Venkatesh B, Tomar S, Sethi R, Tan G, Shanmugasundaram A, Goh DL, Lai PS, Lai A, Tan ES, Ng I, Reversades B, Tan EC, Foo R, Jamuar SS; SUREKids Working Group. Bhatia NS, et al. Arch Dis Child. 2021 Jan;106(1):31-37. doi: 10.1136/archdischild-2020-319180. Epub 2020 Aug 20. Arch Dis Child. 2021. PMID: 32819910

10

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Jamuar SS, Kuan JL, Brett M, Tiang Z, Tan WL, Lim JY, Liew WK, Javed A, Liew WK, Law HY, Tan ES, Lai A, Ng I, Teo YY, Venkatesh B, Reversade B, Tan EC, Foo R. Jamuar SS, et al. EBioMedicine. 2016 Feb 4;5:211-6. doi: 10.1016/j.ebiom.2016.01.030. eCollection 2016 Mar. EBioMedicine. 2016. PMID: 27077130 Free PMC article.

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