Lai PS - Search Results

1

Training in clinical genetics and genetic counseling in Asia.

Cutiongco-de la Paz EM, Chung BH, Faradz SMH, Thong MK, David-Padilla C, Lai PS, Lin SP, Chen YH, Sura T, Laurino M. Cutiongco-de la Paz EM, et al. Among authors: lai ps. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):177-186. doi: 10.1002/ajmg.c.31703. Epub 2019 Apr 29. Am J Med Genet C Semin Med Genet. 2019. PMID: 31037827 Review.

2

Development of clinical genetics in Asia.

Chung B, Willis B, Lai PS. Chung B, et al. Among authors: lai ps. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):150-154. doi: 10.1002/ajmg.c.31700. Epub 2019 Apr 29. Am J Med Genet C Semin Med Genet. 2019. PMID: 31037834

3

Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia.

Wasant P, Padilla C, Lam S, Thong MK, Lai PS. Wasant P, et al. Among authors: lai ps. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):155-165. doi: 10.1002/ajmg.c.31701. Epub 2019 May 3. Am J Med Genet C Semin Med Genet. 2019. PMID: 31050142

4

Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy.

Tomar S, Moorthy V, Sethi R, Chai J, Low PS, Hong STK, Lai PS. Tomar S, et al. Among authors: lai ps. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):230-244. doi: 10.1002/ajmg.c.31704. Epub 2019 May 13. Am J Med Genet C Semin Med Genet. 2019. PMID: 31081998 Review.

5

Comparative study on deletions of the dystrophin gene in three Asian populations.

Lai PS, Takeshima Y, Adachi K, Van Tran K, Nguyen HT, Low PS, Matsuo M. Lai PS, et al. J Hum Genet. 2002;47(10):552-5. doi: 10.1007/s100380200084. J Hum Genet. 2002. PMID: 12376747

6

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Tomar S, Sethi R, Sundar G, Quah TC, Quah BL, Lai PS. Tomar S, et al. Among authors: lai ps. PLoS One. 2017 Jun 2;12(6):e0178776. doi: 10.1371/journal.pone.0178776. eCollection 2017. PLoS One. 2017. PMID: 28575107 Free PMC article.

7

Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.

Hettiarachchi D, Panchal H, Lai PS, Dissanayake VHW. Hettiarachchi D, et al. Among authors: lai ps. BMC Med Genet. 2020 Aug 20;21(1):164. doi: 10.1186/s12881-020-01094-y. BMC Med Genet. 2020. PMID: 32819291 Free PMC article.

8

Spinal muscular atrophy carriers with two SMN1 copies.

Ar Rochmah M, Awano H, Awaya T, Harahap NIF, Morisada N, Bouike Y, Saito T, Kubo Y, Saito K, Lai PS, Morioka I, Iijima K, Nishio H, Shinohara M. Ar Rochmah M, et al. Among authors: lai ps. Brain Dev. 2017 Nov;39(10):851-860. doi: 10.1016/j.braindev.2017.06.002. Epub 2017 Jul 1. Brain Dev. 2017. PMID: 28676237

9

Ethnic variations of a retinoblastoma susceptibility gene (RB1) polymorphism in eight Asian populations.

Kadam-Pai P, Su XY, Miranda JJ, Soemantri A, Saha N, Heng CK, Lai PS. Kadam-Pai P, et al. Among authors: lai ps. J Genet. 2003 Apr-Aug;82(1-2):33-7. doi: 10.1007/BF02715879. J Genet. 2003. PMID: 14631100

10

Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing.

Tomar S, Sethi R, Lai PS. Tomar S, et al. Among authors: lai ps. Eur J Hum Genet. 2019 Sep;27(9):1389-1397. doi: 10.1038/s41431-019-0412-7. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053788 Free PMC article.

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