Detalhe da pesquisa
1.
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.
Circ Res
; 130(2): 166-180, 2022 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34886679
2.
ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data.
BMC Bioinformatics
; 24(1): 49, 2023 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36792982
3.
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.
Hum Mol Genet
; 29(4): 566-579, 2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31813956
4.
Insights into the genetic architecture underlying complex, critical congenital heart disease.
Am Heart J
; 254: 166-171, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36115390
5.
Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes.
Am Heart J
; 244: 1-13, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34670123
6.
"Why and how did this happen?": development and evaluation of an information resource for parents of children with CHD.
Cardiol Young
; 30(3): 346-352, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31920192
7.
Management of People With a Fontan Circulation: a Cardiac Society of Australia and New Zealand Position statement.
Heart Lung Circ
; 29(1): 5-39, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735685
8.
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Genet Med
; 21(5): 1111-1120, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293987
9.
Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease.
Am Heart J
; 201: 33-39, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29910053
10.
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
Am J Hum Genet
; 91(3): 489-501, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22939634
11.
Current Practice of Genetic Testing and Counselling in Congenital Heart Disease: An Australian Perspective.
Heart Lung Circ
; 29(11): 1733-1736, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32868177
12.
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Hum Mol Genet
; 21(7): 1513-20, 2012 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22199024
13.
Biological and structural phenotypes associated with neurodevelopmental outcomes in congenital heart disease.
Transl Pediatr
; 12(4): 768-786, 2023 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37181016
14.
Using novel data linkage of congenital heart disease biobank data with administrative health data to identify cardiovascular outcomes to inform genomic analysis.
Int J Popul Data Sci
; 8(1): 2150, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38414539
15.
Congenital heart disease: current knowledge about causes and inheritance.
Med J Aust
; 197(3): 155-9, 2012 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22860792
16.
A new era of genetic testing in congenital heart disease: A review.
Trends Cardiovasc Med
; 32(5): 311-319, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33964404
17.
Somatic mutations in NKX25, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.
Am J Med Genet A
; 155A(10): 2416-21, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22043484
18.
'Big issues' in neurodevelopment for children and adults with congenital heart disease.
Open Heart
; 6(2): e000998, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31354955
19.
Noncanonical Splice-Altering Variants: Hidden Culprits of Congenital Heart Disease.
Circ Genom Precis Med
; 16(3): 232-235, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37194572
20.
Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries.
Congenit Heart Dis
; 13(3): 401-406, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29399970