Chiang JP - Search Results

1

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.

Hirsch Y, Zeevi DA, Lam BL, Scher SY, Bringer R, Cherki B, Cohen CC, Muallem H, Chiang JP, Pantrangi M, Ekstein J, Johansson MM. Hirsch Y, et al. Among authors: chiang jp. Hum Genome Var. 2019 Sep 12;6:45. doi: 10.1038/s41439-019-0076-4. eCollection 2019. Hum Genome Var. 2019. PMID: 31645983 Free PMC article.

2

Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes.

Chiang JP, Luo H, Duan J, Ekstein J, Hirsch Y. Chiang JP, et al. Ophthalmic Genet. 2018 Jan-Feb;39(1):135-136. doi: 10.1080/13816810.2017.1318928. Epub 2017 Jul 20. Ophthalmic Genet. 2018. PMID: 28726569 No abstract available.

3

Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.

Salles MV, Motta FL, Martin R, Filippelli-Silva R, Dias da Silva E, Varela P, Costa KA, Chiang JP, Pesquero JB, Sallum JF. Salles MV, et al. Among authors: chiang jp. Mol Vis. 2018 Aug 1;24:546-559. eCollection 2018. Mol Vis. 2018. PMID: 30093795 Free PMC article.

4

Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy.

Hull S, Kiray G, Chiang JP, Vincent AL. Hull S, et al. Among authors: chiang jp. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):708-717. doi: 10.1002/ajmg.c.31836. Epub 2020 Aug 28. Am J Med Genet C Semin Med Genet. 2020. PMID: 32856788

5

Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation.

Salles MV, Motta FL, Dias da Silva E, Varela P, Costa KA, Filippelli-Silva R, Martin RP, Chiang JP, Pesquero JB, Sallum JMF. Salles MV, et al. Among authors: chiang jp. Invest Ophthalmol Vis Sci. 2017 Nov 1;58(13):5723-5730. doi: 10.1167/iovs.17-22398. Invest Ophthalmol Vis Sci. 2017. PMID: 29114839

6

Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.

Albakri A, Pisuchpen P, Capasso JE, Schneider A, Kopinsky S, Glaser T, Chiang JP, Yomai AA, McNear D, Levin AV. Albakri A, et al. Among authors: chiang jp. Am J Med Genet A. 2023 Apr;191(4):1007-1012. doi: 10.1002/ajmg.a.63108. Epub 2023 Jan 3. Am J Med Genet A. 2023. PMID: 36595661 Free PMC article.

7

Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.

Gupta PR, Kheir W, Peng B, Duan J, Chiang JP, Iannaccone A. Gupta PR, et al. Among authors: chiang jp. Mol Vis. 2022 Aug 16;28:203-219. eCollection 2022. Mol Vis. 2022. PMID: 36284670 Free PMC article.

8

Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population.

Thompson JA, Chiang JP, De Roach JN, McLaren TL, Chen FK, Hoffmann L, Campbell I, Lamey TM. Thompson JA, et al. Among authors: chiang jp. Adv Exp Med Biol. 2019;1185:269-273. doi: 10.1007/978-3-030-27378-1_44. Adv Exp Med Biol. 2019. PMID: 31884623

9

Response to Cody.

Wang NK, Chiang JPW. Wang NK, et al. Among authors: chiang jpw. Genet Med. 2020 Jan;22(1):236-237. doi: 10.1038/s41436-019-0621-z. Epub 2019 Aug 9. Genet Med. 2020. PMID: 31395943 Free PMC article. No abstract available.

10

Increasing evidence of combinatory variant effects calls for revised classification of low-penetrance alleles.

Wang NK, Chiang JPW. Wang NK, et al. Among authors: chiang jpw. Genet Med. 2019 Jun;21(6):1280-1282. doi: 10.1038/s41436-018-0347-3. Epub 2018 Nov 2. Genet Med. 2019. PMID: 30385887 Free PMC article. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

24 results

Search Page