Kam S - 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: kam s. 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

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: kam s. 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

3

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: kam s. 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.

4

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: kam s. 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

5

Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia.

Tzen EY, Lim JY, Cheah SM, Choo JTL, Kam S, Ng ZM, Thomas B, Jamuar S, Koh AL, Tan EC. Tzen EY, et al. Among authors: kam s. Mol Syndromol. 2023 Feb;14(1):21-29. doi: 10.1159/000525434. Epub 2022 Jul 21. Mol Syndromol. 2023. PMID: 36777711 Free PMC article.

6

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: kam s. Clin Dysmorphol. 2023 Jul 1;32(3):106-111. doi: 10.1097/MCD.0000000000000457. Epub 2023 May 1. Clin Dysmorphol. 2023. PMID: 37195341 Review.

7

Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective.

Balakrishnan ID, Bylstra Y, Fong N, Chai NBS, Kam S, Khoo CY, Chan LLH, Koh AS, Tang HC, Lim E, Tan JL, Lim WK, Pua CJ, Sim D, Cook SA, Tan ES, Yeo KK, Jamuar SS. Balakrishnan ID, et al. Among authors: kam s. Genet Med Open. 2024 Jul 24;2:101877. doi: 10.1016/j.gimo.2024.101877. eCollection 2024. Genet Med Open. 2024. PMID: 39669619 Free PMC article.

8

Alternating hemiplegia of childhood presenting as recurrent apnoea in a term newborn infant.

Koh NYT, Lim JYX, Kam S, Visruthan NK, Koh AL, Lee JH, Thomas T. Koh NYT, et al. Among authors: kam s. Ann Acad Med Singap. 2021 Feb;50(2):174-176. doi: 10.47102/annals-acadmedsg.2020414. Ann Acad Med Singap. 2021. PMID: 33733261 Free article. 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: kam s. 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

RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.

Chan CM, Tan TE, Jain K, Bylstra Y, Mathur RS, Tang RWC, Lee BJH, Jamuar SS, Kam S, Vithana EN, Lim WK, Fenner BJ. Chan CM, et al. Among authors: kam s. Retina. 2023 Oct 1;43(10):1788-1796. doi: 10.1097/IAE.0000000000003874. Retina. 2023. PMID: 37418643

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