Detalhe da pesquisa
1.
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.
J Med Genet
; 61(1): 47-56, 2023 Dec 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37495270
2.
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Eur J Hum Genet
; 32(2): 190-199, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37872275