Detalhe da pesquisa
1.
Clinical utility of exome sequencing in infantile heart failure.
Genet Med
; 22(2): 423-426, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31527676
2.
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Genet Med
; 22(4): 736-744, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31780822
3.
Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother.
Am J Med Genet A
; 176(5): 1249-1252, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681100
4.
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Genet Med
; 19(10): 1171-1178, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28425981