Wei H - Search Results

1

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. Among authors: wei h. 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

2

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: wei h. Clin Dysmorphol. 2019 Oct;28(4):215-218. doi: 10.1097/MCD.0000000000000290. Clin Dysmorphol. 2019. PMID: 31490282 No abstract available.

3

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. 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.

4

Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.

Wei H, Wee LWY, Born B, Seang S, Koh MJA, Yee R, Lin G, Rafi'ee K, Mey S, Tan EC. Wei H, et al. Am J Med Genet A. 2020 Feb;182(2):296-302. doi: 10.1002/ajmg.a.61447. Epub 2019 Dec 17. Am J Med Genet A. 2020. PMID: 31846207

5

Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene.

Lian S, Ting TW, Lai AHM, Tan ES, Wei H, Cham B, Tan EC. Lian S, et al. Among authors: wei h. J Neurol Sci. 2020 Jul 15;414:116819. doi: 10.1016/j.jns.2020.116819. Epub 2020 Apr 4. J Neurol Sci. 2020. PMID: 32339967

6

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.

7

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

8

CARD14-associated papulosquamous eruption (CAPE) in a toddler responding to treatment with acitretin.

Wong GHZ, Chia SY, Wei H, Rafi'ee K, Koh MJA, Tan EC. Wong GHZ, et al. Among authors: wei h. Pediatr Dermatol. 2021 Jul;38(4):970-972. doi: 10.1111/pde.14638. Epub 2021 Jun 2. Pediatr Dermatol. 2021. PMID: 34075616

9

Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant.

Chia SY, Tan EC, Wei H, Zhao Y, Koh MJA. Chia SY, et al. Among authors: wei h. Eur J Med Genet. 2021 Nov;64(11):104324. doi: 10.1016/j.ejmg.2021.104324. Epub 2021 Aug 27. Eur J Med Genet. 2021. PMID: 34461324

10

MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report.

Chin X, Sreedharan AV, Tan EC, Wei H, Kuan JL, Ho CWW, Lam JCM, Ting TW, Vasanwala RF. Chin X, et al. Among authors: wei h. Front Endocrinol (Lausanne). 2021 Sep 29;12:742495. doi: 10.3389/fendo.2021.742495. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34659124 Free PMC article.

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