Search details
1.
Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
Hum Mol Genet
; 2023 Oct 31.
Article
in English
| MEDLINE | ID: mdl-37930186
2.
A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.
Ophthalmology
; 2024 Feb 01.
Article
in English
| MEDLINE | ID: mdl-38309476
3.
Human photoreceptor cells from different macular subregions have distinct transcriptional profiles.
Hum Mol Genet
; 30(16): 1543-1558, 2021 07 28.
Article
in English
| MEDLINE | ID: mdl-34014299
4.
Exome-based investigation of the genetic basis of human pigmentary glaucoma.
BMC Genomics
; 22(1): 477, 2021 Jun 26.
Article
in English
| MEDLINE | ID: mdl-34174832
5.
Spectacle: An interactive resource for ocular single-cell RNA sequencing data analysis.
Exp Eye Res
; 200: 108204, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32910939
6.
Primary congenital and developmental glaucomas.
Hum Mol Genet
; 26(R1): R28-R36, 2017 08 01.
Article
in English
| MEDLINE | ID: mdl-28549150
7.
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
Hum Mol Genet
; 25(1): 44-56, 2016 Jan 01.
Article
in English
| MEDLINE | ID: mdl-26494905
8.
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.
Ophthalmology
; 124(9): 1314-1331, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28559085
9.
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.
Ophthalmology
; 123(1): 9-18, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26507665
10.
A targeted sequencing study of glutamatergic candidate genes in suicide attempters with bipolar disorder.
Am J Med Genet B Neuropsychiatr Genet
; 171(8): 1080-1087, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27480506
11.
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
Hum Mol Genet
; 22(25): 5136-45, 2013 Dec 20.
Article
in English
| MEDLINE | ID: mdl-23918662
12.
Cordova: web-based management of genetic variation data.
Bioinformatics
; 30(23): 3438-9, 2014 Dec 01.
Article
in English
| MEDLINE | ID: mdl-25123904
13.
Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq.
Exp Eye Res
; 129: 93-106, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25446321
14.
Advancing genetic testing for deafness with genomic technology.
J Med Genet
; 50(9): 627-34, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23804846
15.
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.
Proc Natl Acad Sci U S A
; 108(34): E569-76, 2011 Aug 23.
Article
in English
| MEDLINE | ID: mdl-21825139
16.
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).
Proc Natl Acad Sci U S A
; 108(10): 4218-23, 2011 Mar 08.
Article
in English
| MEDLINE | ID: mdl-21368133
17.
Prioritization of retinal disease genes: an integrative approach.
Hum Mutat
; 34(6): 853-9, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23508994
18.
AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Hum Mutat
; 34(4): 539-45, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23280582
19.
Exon-level expression profiling of ocular tissues.
Exp Eye Res
; 111: 105-11, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23500522
20.
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.
Proc Natl Acad Sci U S A
; 107(49): 21104-9, 2010 Dec 07.
Article
in English
| MEDLINE | ID: mdl-21078986