Detalhe da pesquisa
1.
An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality.
Genes Dev
; 32(5-6): 373-388, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29555651
2.
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.
Hum Mol Genet
; 32(7): 1223-1235, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36440963
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
em 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
em Inglês
| MEDLINE | ID: mdl-34547032
5.
Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
Circulation
; 145(8): 606-619, 2022 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35113653
6.
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
J Hum Genet
; 68(4): 273-279, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599954
7.
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
Genet Med
; 23(1): 103-110, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820247
8.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 1952-1960, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113005
9.
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
Am J Med Genet A
; 185(12): 3814-3820, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34254723
10.
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Circ Res
; 124(4): 553-563, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30582441
11.
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
Am J Med Genet A
; 182(8): 1952-1956, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32462814
12.
Flotillins in the intercalated disc are potential modulators of cardiac excitability.
J Mol Cell Cardiol
; 126: 86-95, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30452906
13.
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
Am J Med Genet A
; 179(9): 1836-1845, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301121
14.
Familial co-occurrence of congenital heart defects follows distinct patterns.
Eur Heart J
; 39(12): 1015-1022, 2018 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29106500
15.
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
Genet Med
; 24(4): 965, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394427
16.
A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.
Hum Mutat
; 37(2): 194-200, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26531781
17.
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 2013, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522030
18.
Genetics of congenital heart disease: the contribution of the noncoding regulatory genome.
J Hum Genet
; 61(1): 13-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26223183
19.
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
Hum Mol Genet
; 22(7): 1473-81, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23297363
20.
A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding.
Biochim Biophys Acta
; 1833(4): 833-9, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23147248