Lim JY - Search Results

1

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Broeren E, Gitau V, Byrne A, Ajuyah P, Balzotti M, Berg J, Bluske K, Bowen BM, Brown MP, Buchanan A, Burns B, Burns NJ, Chandrasekhar A, Chawla A, Chong J, Chopra M, Clause A, DiStefano M, DiTroia S, Elnagheeb M, Girod A, Goel H, Golden-Grant K, Ha T, Hamosh A, Huang J, Hughes M, Jamuar S, Kam S, Kesari A, Koh AL, Lassiter R, Leigh S, Lemire G, Lim JY, Malhotra A, McCurry H, Milewski B, Moosa S, Murray S, Owens E, Palmer E, Palus B, Patel M, Rajkumar R, Ratliff J, Raymond FL, Assis BDRR, Sajan S, Schlachetzki Z, Schmidt S, Stark Z, Strom S, Taylor J, Thaxton C, Thrush D, Toro S, Tshering K, Vasilevsky N, Wayburn B, Webb R, O'Donnell-Luria A, Coffey AJ. Broeren E, et al. Among authors: lim jy. medRxiv [Preprint]. 2024 Nov 20:2024.11.19.24317561. doi: 10.1101/2024.11.19.24317561. medRxiv. 2024. PMID: 39606380 Free PMC article. Preprint.

2

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

3

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. Among authors: lim jy. 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

4

DEGS1 -related leukodystrophy: a clinical report and review of literature.

Wong MST, Thomas T, Lim JY, Kam S, Teo JX, Ching J, Goh CYJ, Jamuar SS, Lim WK, Koh AL. Wong MST, et al. Among authors: lim wk, lim jy. Clin Dysmorphol. 2023 Jul 1;32(3):106-111. doi: 10.1097/MCD.0000000000000457. Epub 2023 May 1. Clin Dysmorphol. 2023. PMID: 37195341 Review.

5

The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.

Yap JYC, Lim JY, Bhatia A, Tan VKJ, Koo S, Nishimura G, Moosa S, Koh AL, Tan EC, Fong N, Jamuar SS. Yap JYC, et al. Among authors: lim jy. Am J Med Genet A. 2024 Feb;194(2):358-362. doi: 10.1002/ajmg.a.63420. Epub 2023 Oct 6. Am J Med Genet A. 2024. PMID: 37799085

6

Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases.

Fong N, Wei H, Lim JY, Goh CJ, Kam S, Jamuar SS, Tan EC. Fong N, et al. Among authors: lim jy. Am J Med Genet A. 2022 Feb;188(2):672-675. doi: 10.1002/ajmg.a.62555. Epub 2021 Nov 4. Am J Med Genet A. 2022. PMID: 34738299 No abstract available.

7

To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening.

Heng TYJ, Ow JR, Koh AL, Lim JSC, Ong CBK, Goh JCY, Lim JY, Chiou FK, Jamuar SS. Heng TYJ, et al. Among authors: lim jsc, lim jy. Clin Dysmorphol. 2024 Jan 1;33(1):43-49. doi: 10.1097/MCD.0000000000000475. Epub 2023 Oct 13. Clin Dysmorphol. 2024. PMID: 37865865

8

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.

9

Rapid exome sequencing to aid diagnostics in genetic disorders: Implementation and challenges in the Singapore context.

Fong N, Lim JY, Cham B, Kam S, Goh CY, Wei H, Tan YM, Law HY, Lim WK, Tan ES, Tan EC, Jamuar SS. Fong N, et al. Among authors: lim wk, lim jy. Ann Acad Med Singap. 2022 Dec;51(12):798-800. doi: 10.47102/annals-acadmedsg.202252. Ann Acad Med Singap. 2022. PMID: 36592150 Free article. No abstract available.

10

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.

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