Detalhe da pesquisa
1.
Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart.
J Anat
; 2024 Feb 28.
Artigo
Inglês
| MEDLINE | ID: mdl-38419169
2.
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
J Med Genet
; 60(12): 1235-1244, 2023 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-37558402
3.
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(7): e1009679, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34324492
4.
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(9): e1009809, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34547032
5.
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
Genet Med
; 23(1): 103-110, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32820247
6.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 1952-1960, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34113005
7.
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
Genet Med
; 24(4): 965, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-35394427
8.
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 2013, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34522030
9.
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.
J Hum Genet
; 59(6): 300-6, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24646727
10.
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
Genome Med
; 12(1): 76, 2020 08 28.
Artigo
Inglês
| MEDLINE | ID: mdl-32859249
11.
Recent advances in congenital heart disease genomics.
F1000Res
; 6: 869, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28663792
12.
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Nat Genet
; 48(9): 1060-5, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27479907