Lim JY - Search Results

1

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: lim jy. 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

2

Left Ventricular Non-compaction: Is It Genetic?

Ting TW, Jamuar SS, Brett MS, Tan ES, Cham BW, Lim JY, Law HY, Tan EC, Choo JT, Lai AH. Ting TW, et al. Among authors: lim jy. Pediatr Cardiol. 2015 Dec;36(8):1565-72. doi: 10.1007/s00246-015-1222-5. Epub 2015 Jun 25. Pediatr Cardiol. 2015. PMID: 26108892 Review.

3

DICER1 deletion and 14q32 microdeletion syndrome: an additional case and a review of the literature.

Ting TW, Brett MS, Cham BW, Lim JY, Law HY, Tan EC, Lai AH, Jamuar SS. Ting TW, et al. Among authors: lim jy. Clin Dysmorphol. 2016 Jan;25(1):37-40. doi: 10.1097/MCD.0000000000000105. Clin Dysmorphol. 2016. PMID: 26513514 Review. No abstract available.

4

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. Among authors: lim jy. 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.

5

Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature.

Bhatia NS, Lim JY, Brett MS, Tan EC, Law HY, Thomas B, Choo J, Lai AHM, Jamuar SS. Bhatia NS, et al. Among authors: lim jy. Clin Dysmorphol. 2019 Jan;28(1):53-56. doi: 10.1097/MCD.0000000000000245. Clin Dysmorphol. 2019. PMID: 30507726 Review. No abstract available.

6

Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype.

Chew YR, Lim JY, Teoh OH, Chen CK, Foo R, Lai AH, Jamuar SS. Chew YR, et al. Among authors: lim jy. Clin Dysmorphol. 2019 Jul;28(3):167-169. doi: 10.1097/MCD.0000000000000264. Clin Dysmorphol. 2019. PMID: 30921097 No abstract available.

7

A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.

Lim JY, Bhatia NS, Vasanwala RF, Chay PL, Lim KBL, Khoo PC, Schwarze U, Jamuar SS. Lim JY, et al. Among authors: lim kbl. Clin Dysmorphol. 2019 Jul;28(3):120-125. doi: 10.1097/MCD.0000000000000279. Clin Dysmorphol. 2019. PMID: 30985308 Review.

8

Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.

Ting CY, Bhatia NS, Lim JY, Goh CJ, Vasanwala RF, Ong CC, Seow WT, Yeow VK, Ting TW, Ng IS, Jamuar SS. Ting CY, et al. Among authors: lim jy. Eur J Med Genet. 2020 Feb;63(2):103652. doi: 10.1016/j.ejmg.2019.04.009. Epub 2019 Apr 13. Eur J Med Genet. 2020. PMID: 30986546 Review.

9

TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome.

Si-Min Ng P, Khan S, Lim JY, Chew-Yin Goh J, Lin GX, Wei H, Tan EC, Jamuar SS. Si-Min Ng P, et al. Among authors: lim jy. Clin Dysmorphol. 2019 Oct;28(4):215-218. doi: 10.1097/MCD.0000000000000290. Clin Dysmorphol. 2019. PMID: 31490282 No abstract available.

10

Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant.

Wei H, Krishnappa J, Lin G, Kavalloor N, Lim JY, Goh CJ, Jamuar SS, Thomas T, Tan EC. Wei H, et al. Among authors: lim jy. Am J Med Genet A. 2020 Mar;182(3):576-578. doi: 10.1002/ajmg.a.61444. Epub 2019 Dec 12. Am J Med Genet A. 2020. PMID: 31833200 No abstract available.

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