Detalhe da pesquisa
1.
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection.
Annu Rev Genomics Hum Genet
; 23: 223-253, 2022 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044906
2.
Inherited Ventricular Arrhythmia in Zebrafish: Genetic Models and Phenotyping Tools.
Rev Physiol Biochem Pharmacol
; 184: 33-68, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-34533615
3.
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
J Med Genet
; 61(4): 363-368, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38290823
4.
A human importin-ß-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Am J Hum Genet
; 108(6): 1115-1125, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010605
5.
varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.
Bioinformatics
; 39(1)2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36440912
6.
Investigation of Strategies to Block Downstream Effectors of AT1R-Mediated Signalling to Prevent Aneurysm Formation in Marfan Syndrome.
Int J Mol Sci
; 25(9)2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38732244
7.
Structural genomic variants in thoracic aortic disease.
Curr Opin Cardiol
; 38(3): 157-161, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36795406
8.
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.
Am J Med Genet A
; 191(2): 479-489, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380655
9.
Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.
Eur Heart J
; 43(20): 1901-1916, 2022 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35089333
10.
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.
Hum Mutat
; 43(7): 815-831, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35419902
11.
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
Hum Mutat
; 43(12): 1824-1828, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819173
12.
The role of biglycan in the healthy and thoracic aneurysmal aorta.
Am J Physiol Cell Physiol
; 322(6): C1214-C1222, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35476501
13.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Genet Med
; 24(10): 2112-2122, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36053285
14.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499524
15.
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Genet Med
; 24(5): 1045-1053, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35058154
16.
Update on the molecular landscape of thoracic aortic aneurysmal disease.
Curr Opin Cardiol
; 37(3): 201-211, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35175228
17.
Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.
J Med Genet
; 58(11): 778-782, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32900841
18.
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Circulation
; 142(4): 324-338, 2020 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32429735
19.
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.
Am J Hum Genet
; 103(2): 288-295, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032985
20.
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Genet Med
; 23(1): 47-58, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32893267