Detalhe da pesquisa
1.
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
J Med Genet
; 60(8): 810-818, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669873
2.
Embryonal sarcoma of the liver in a girl with Cockayne syndrome.
Clin Genet
; 101(3): 375-376, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34878179
3.
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Genet Med
; 22(4): 745-751, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31848469
4.
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
Ophthalmology
; 124(7): 985-991, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28341476
5.
Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Genet Med
; 23(10): 2023, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33353976
6.
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.
Genes (Basel)
; 14(4)2023 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37107549
7.
Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.
J Mol Diagn
; 24(12): 1232-1239, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36191840
8.
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Sci Rep
; 11(1): 20607, 2021 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34663891
9.
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Eur J Hum Genet
; 28(5): 576-586, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31836858