Detalhe da pesquisa
1.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet;
2024 May 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38815585
2.
Left Atrial Function in Patients with Titin Cardiomyopathy.
J Card Fail;
30(1): 51-60, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37230314
3.
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
4.
The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview.
Europace;
25(11)2023 11 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37967257
5.
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Prenat Diagn;
43(4): 527-543, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36647814
6.
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
7.
Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences.
Eur Heart J;
42(2): 162-174, 2021 01 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33156912
8.
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.
Genet Med;
23(11): 2186-2193, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34194005
9.
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
10.
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
J Med Genet;
57(10): 717-724, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32152250
11.
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Hum Mutat;
41(6): 1091-1111, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32112656
12.
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
J Hum Genet;
65(11): 1003-1017, 2020 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32788638
13.
Metabolic Profiling Associates with Disease Severity in Nonischemic Dilated Cardiomyopathy.
J Card Fail;
26(3): 212-222, 2020 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31541741
14.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Genet Med;
26(2): 101024, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38085215
15.
Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias.
Eur Heart J;
39(10): 864-873, 2018 03 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29377983
16.
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Hum Mutat;
39(9): 1173-1192, 2018 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29907982
17.
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Am J Hum Genet;
94(5): 734-44, 2014 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24726473
18.
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.
Eur Heart J;
37(23): 1815-22, 2016 06 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26497160
19.
Distinct Cardiac Transcriptomic Clustering in Titin and Lamin A/C-Associated Dilated Cardiomyopathy Patients.
Circulation;
142(12): 1230-1232, 2020 09 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32955937
20.
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
Circulation;
142(10): 1021-1024, 2020 09 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32897753