Search details
1.
Genome Sequencing for Diagnosing Rare Diseases.
N Engl J Med
; 390(21): 1985-1997, 2024 Jun 06.
Article
in English
| MEDLINE | ID: mdl-38838312
2.
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK).
Genet Med
; 24(2): 332-343, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34906470
3.
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Genet Med
; 22(6): 1079-1087, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32037395
4.
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.
Genet Med
; 21(3): 694-704, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30072743
5.
Retinal Manifestations in Spinocerebellar Ataxia Type 3.
J Neuroophthalmol
; 2022 Dec 08.
Article
in English
| MEDLINE | ID: mdl-36729871
6.
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Genet Med
; 17(4): 253-261, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25412400
7.
Generation of a human induced pluripotent stem cell line (OGIi001) from peripheral blood mononuclear cells of a healthy male donor.
Stem Cell Res
; 74: 103280, 2024 02.
Article
in English
| MEDLINE | ID: mdl-38134577
8.
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease.
NPJ Genom Med
; 9(1): 31, 2024 May 27.
Article
in English
| MEDLINE | ID: mdl-38802398
9.
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Res Sq
; 2024 Feb 09.
Article
in English
| MEDLINE | ID: mdl-38405922
10.
Disparities in Inherited Retinal Degenerations.
Semin Ophthalmol
; 38(2): 201-206, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-36536519
11.
RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY.
Retin Cases Brief Rep
; 17(5): 533-537, 2023 Sep 01.
Article
in English
| MEDLINE | ID: mdl-37643038
12.
Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome.
Ophthalmic Genet
; 44(2): 198-203, 2023 04.
Article
in English
| MEDLINE | ID: mdl-35834361
13.
Structure-based network analysis predicts mutations associated with inherited retinal disease.
medRxiv
; 2023 Jul 06.
Article
in English
| MEDLINE | ID: mdl-37461650
14.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
medRxiv
; 2023 Aug 13.
Article
in English
| MEDLINE | ID: mdl-38328047
15.
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.
Cold Spring Harb Mol Case Stud
; 8(7)2022 12.
Article
in English
| MEDLINE | ID: mdl-36376065
16.
A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Article
in English
| MEDLINE | ID: mdl-34728537
17.
Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.
Ophthalmic Genet
; 43(3): 332-339, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35057699
18.
Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa.
Genes (Basel)
; 12(12)2021 11 23.
Article
in English
| MEDLINE | ID: mdl-34946802
19.
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.
Invest Ophthalmol Vis Sci
; 62(7): 27, 2021 06 01.
Article
in English
| MEDLINE | ID: mdl-34185059
20.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
NPJ Genom Med
; 6(1): 53, 2021 Jun 29.
Article
in English
| MEDLINE | ID: mdl-34188062