Jamuar SS - Search Results

1

Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.

Huang Z, Zhang D, Thompson JA, Jamuar SS, Roshandel D, Jennings L, Mellough C, Charng J, Chen SC, McLaren TL, Lamey TM, Chelva E, De Roach JN, Chan CM, McLenachan S, Chen FK. Huang Z, et al. Among authors: jamuar ss. Ophthalmic Genet. 2021 Jun;42(3):266-275. doi: 10.1080/13816810.2021.1891551. Epub 2021 Feb 24. Ophthalmic Genet. 2021. PMID: 33624564

2

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: jamuar ss. Retina. 2023 Oct 1;43(10):1788-1796. doi: 10.1097/IAE.0000000000003874. Retina. 2023. PMID: 37418643

3

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW. Jamuar SS, et al. Nat Genet. 2017 Apr;49(4):606-612. doi: 10.1038/ng.3804. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250456 Free PMC article.

4

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. Among authors: jamuar ss. 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.

5

Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?

Koh AL, Bonnard C, Lim JY, Liew WK, Thoon KC, Thomas T, Ali NAB, Ng AYJ, Tohari S, Phua KB, Venkatesh B, Reversade B, Jamuar SS. Koh AL, et al. Among authors: jamuar ss. Am J Med Genet A. 2020 Sep;182(9):2010-2020. doi: 10.1002/ajmg.a.61758. Epub 2020 Jul 13. Am J Med Genet A. 2020. PMID: 32657013

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: jamuar ss. 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

Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1.

Lin G, Wei H, Lai AHM, Tan ES, Lim JY, Cham B, Ling S, Jamuar SS, Tan EC. Lin G, et al. Among authors: jamuar ss. J Pediatr Genet. 2021 Oct 19;12(2):135-140. doi: 10.1055/s-0041-1736457. eCollection 2023 Jun. J Pediatr Genet. 2021. PMID: 37090834 Free PMC article.

8

Clinical and radiological findings in Pallister-Killian syndrome.

Jamuar S, Lai A, Unger S, Nishimura G. Jamuar S, et al. Eur J Med Genet. 2012 Mar;55(3):167-72. doi: 10.1016/j.ejmg.2012.01.019. Epub 2012 Feb 10. Eur J Med Genet. 2012. PMID: 22387057

9

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.

10

Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation.

Brett M, Lai AH, Ting TW, Tan AM, Foo R, Jamuar S, Tan EC. Brett M, et al. Am J Med Genet A. 2017 Feb;173(2):550-552. doi: 10.1002/ajmg.a.38026. Epub 2016 Oct 19. Am J Med Genet A. 2017. PMID: 27759915 No abstract available.

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