Detalhe da pesquisa
1.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med
; 24(9): 1899-1908, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35616647
2.
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Genet Med
; 23(11): 2208-2212, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34230634
3.
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Genet Med
; 21(10): 2409, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31114025
4.
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Genet Med
; 21(10): 2239-2247, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30894701