A5081348074- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Cardiac Valve Diseases and Treatments
- Genomics and Rare Diseases
- Congenital heart defects research
- Congenital Heart Disease Studies
- Cardiac Structural Anomalies and Repair
- Genomic variations and chromosomal abnormalities
- Connective tissue disorders research
- Cardiac electrophysiology and arrhythmias
- Cardiac pacing and defibrillation studies
- Mental Health Research Topics
- Neurogenetic and Muscular Disorders Research
- Cardiac Arrhythmias and Treatments
- Genomics and Chromatin Dynamics
- Aortic Disease and Treatment Approaches
- Metabolism and Genetic Disorders
- Epigenetics and DNA Methylation
- Ion channel regulation and function
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- Cancer-related Molecular Pathways
- Aortic aneurysm repair treatments
- Viral Infections and Immunology Research
- Congenital Diaphragmatic Hernia Studies
Leiden University Medical Center
2016-2025
Leiden University
2014-2024
VA Greater Los Angeles Healthcare System
2023
TU Dresden
2023
Cedars-Sinai Medical Center
2023
Erasmus MC
2023
University Medical Center Groningen
2018-2020
University of Groningen
2018
Amsterdam UMC Location University of Amsterdam
2008-2016
University of Amsterdam
2010-2013
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability first described in 2014 with a report of 13 individuals constitutive heterozygous DNMT3A variants. Here we have undertaken detailed clinical study 55 de novoDNMT3A variants, including previously reported individuals. An and were >80% TBRS designated major associations. Additional frequent associations (reported 20-80% individuals) included evolving facial...
Knowledge on mechanisms involved in early prediction of response to antidepressant medication may help optimize clinical decision making. Recent studies regarding pharmacotherapy implicate resilience-like and involvement positive, rather than negative emotions. The aim the current study is examine contribution change positive affect pharmacotherapy. Positive emotions were measured at baseline during first week pharmacotherapy, using experience sampling techniques. association between...
Interpretation of missense variants can be especially difficult when the variant is also found in control populations. This what we encountered for LMNA c.992G>A (p.(Arg331Gln)) variant. Therefore, to evaluate effect this variant, combined an evaluation clinical data with functional experiments and morphological studies.Clinical 23 probands 35 family members carrying were retrospectively collected. A time-to-event analysis was performed compare course disease carriers other mutations....
Abstract Background We previously associated HIST1H1E mutations causing Rahman syndrome with a specific genome-wide methylation pattern. Results Methylome analysis from peripheral blood samples of six affected subjects led us to identify hypomethylated profile. This “episignature” was enriched for genes involved in neuronal system development and function. A computational classifier yielded full sensitivity specificity detecting syndrome. Applying this model cohort undiagnosed probands...
Abstract One of the recently recognized microdeletion syndromes is 16p11.2 deletion syndrome (593 kb; ∼29.5 Mb to ∼30.1 Mb), associated with developmental delay, autism spectrum disorder, epilepsy, and obesity. Less frequently reported a smaller 220 kb deletion, adjacent distal this which has been referred as atypical (220 ∼28.74 ∼28.95 Mb). We describe three patients update manifestations in two sibs who have described possibly new entity Journal 1997 [Bakker Hennekam (1997); Am J Med Genet...
Neuromuscular disorders (NMDs) are clinically and genetically heterogeneous. Accurate molecular genetic diagnosis can improve clinical management, provides appropriate counseling testing of relatives, allows potential therapeutic trials.To establish the utility panel-based whole exome sequencing (WES) in NMDs a population with children adults various neuromuscular symptoms.Clinical sequencing, followed by diagnostic interpretation variants genes associated NMDs, was performed cohort 396...
Biallelic damaging variants in ALPK3, encoding alpha-protein kinase 3, cause pediatric-onset cardiomyopathy with manifestations that are incompletely defined.We analyzed clinical of biallelic ALPK3 19 pediatric patients, including nine previously published cases. Among these, 11 loss-of-function (LoF) variants, seven compound LoF and deleterious missense one homozygous variant were identified. 18 live-born 8 exhibited neonatal dilated (44.4%; 95% CI: 21.5%-69.2%) subsequently transitioned...
Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports D-TGA patients with rare variants individual genes, majority cases remain genetically elusive. Familial recurrence patterns and observation that most sporadic suggest polygenic inheritance for disorder, yet this remains unexplored. Objective: We sought to study role common single nucleotide polymorphisms (SNPs)...
PurposePathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features described for 11 patients (likely) pathogenic sequence variants. This study aims to further delineate the spectrum of SETD1B-related syndrome based on characterizing an expanded patient cohort.MethodsWe perform in-depth characterization cohort 36 unpublished individuals variants, describing their...
Highlights•Impaired strain can identify both right and left ventricular involvement in ARVC•Biventricular assessment is crucial as patients present LV only•Patients be grouped into normal, discordant (LV or RV) impaired (both) strain•Involvement of one ventricles associated with mortality arrhythmias•Biventricular impairment has prognostic value across ARVC diagnosis spectrumAbstractDespite arrhythmogenic cardiomyopathy (ARVC) being predominantly a (RV) disease, concomitant (LV) been...
ABSTRACT In the presented case of familial mitral valve prolapse, whole exome sequencing was used to reveal a missense variant in PDLIM7 gene. This gene is considered possible novel candidate for MVP based on knock‐out mice and zebrafish showing abnormalities.
Article Abstract Background: Although some depression trials have included quality of life (QoL) as an outcome measure, assessments were retrospective and relatively infrequent. Because QoL varies in relation to everyday experience, intensive time-sampling approaches may be useful. Method: The experience sampling method (ESM) was used assess effects antidepressant treatment on the life, measured from moment daily (mQoL), related aspects experience. Primary care patients with a...
Purpose Although a familial distribution has been documented, the genetic aetiology of mitral valve prolapse (MVP) is largely unknown, with only four genes identified so far: FLNA , DCHS1 DZIP1 and PLD1 . The aim this study was to evaluate yield in known causative identify possible novel associated MVP using heart gene panel based on exome sequencing. Methods Patients were referred for counselling when positive family history reported and/or Barlow’s disease diagnosed. In total, 101 probands...
Abstract Genetic missense variants in TNNI3K, encoding troponin‐I interacting kinase, have been associated with dilated cardiomyopathy (DCM) and observed families supraventricular tachycardias (SVT). Previously, a family harboring the TNNI3K ‐c.1615A > G (p.Thr539Ala) variant presented congenital junctional ectopic tachycardia (CJET), an arrhythmia that arises from atrioventricular (AV) node His bundle. However, this was relatively small four‐generational limited genetic testing ( N = 3)....
Truncating titin variants (TTNtvs) are the most prevalent cause of inherited dilated cardiomyopathy. Occurrence different ventricular arrhythmia (VA) subtypes, including premature complexes (PVCs), nonsustained tachycardia (NSVT), and sustained monomorphic VT (SMVT), has been reported. The aim this study was to analyze prognostic relevance distinct VA subtypes among TTNtv carriers their underlying arrhythmogenic substrates. Twenty-two referred for ablation SMVT (n = 14) or frequent PVCs 8)...