Detalhe da pesquisa
1.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-34906470
2.
Analysis of the reported use of practice-based competencies by North American genetic counselors during the COVID-19 pandemic.
J Genet Couns
; 30(5): 1257-1268, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34523197
3.
Investigating the associations of macular edema in retinitis pigmentosa.
Sci Rep
; 13(1): 14187, 2023 08 30.
Artigo
Inglês
| MEDLINE | ID: mdl-37648803
4.
Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.
Ophthalmic Genet
; 43(3): 332-339, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35057699
5.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
NPJ Genom Med
; 6(1): 53, 2021 Jun 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34188062
6.
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Cold Spring Harb Mol Case Stud
; 6(1)2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32014858