Karin van Spaendonck‐Zwarts
A5076363185- Cardiomyopathy and Myosin Studies
- Genomics and Rare Diseases
- Cardiovascular Effects of Exercise
- Takotsubo Cardiomyopathy and Associated Phenomena
- Congenital heart defects research
- Cardiac Structural Anomalies and Repair
- RNA modifications and cancer
- Cardiovascular Issues in Pregnancy
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- Sports injuries and prevention
- Cancer Mechanisms and Therapy
- RNA regulation and disease
- Muscle Physiology and Disorders
- Cardiac Valve Diseases and Treatments
- Histiocytic Disorders and Treatments
- Chromatin Remodeling and Cancer
- Congenital Diaphragmatic Hernia Studies
- Polyomavirus and related diseases
- Neurofibromatosis and Schwannoma Cases
- Congenital Heart Disease Studies
- Cardiac electrophysiology and arrhythmias
- Neurogenetic and Muscular Disorders Research
- Tuberous Sclerosis Complex Research
- Immunodeficiency and Autoimmune Disorders
Royal Brisbane and Women's Hospital
2019-2024
Baylor College of Medicine
2023
American College of Medical Genetics
2023
University of Amsterdam
2014-2020
Amsterdam UMC Location University of Amsterdam
2014-2020
Queensland Health
2020
Amsterdam University Medical Centers
2019
Amsterdam UMC Location Vrije Universiteit Amsterdam
2018
University Medical Center
2018
University Hospital and Clinics
2018
We sought to describe the clinical presentation, management, and 6-month outcomes in women with peripartum cardiomyopathy (PPCM) globally.In 2011, >100 national affiliated member cardiac societies of European Society Cardiology (ESC) were contacted contribute a global registry on PPCM, under auspices ESC EURObservational Research Programme. These tasked identifying centres who could participate this registry. In low-income countries, e.g. Mozambique or Burkina Faso, where there are no due...
We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in the neuroblastoma amplified sequence ( NBAS ) gene. Both presented as infants recurrent episodes triggered fever vomiting, dehydration, elevated transaminases. They had frequent infections, hypogammaglobulinemia, reduced natural killer cells, Pelger–Huët anomaly of their granulocytes. Their facial features were similar pointed chin...
Abstract Recent advancements in next generation sequencing (NGS) technology have led to the identification of giant sarcomere gene, titin ( TTN ), as a major human disease gene. Truncating variants (TTNtv) especially A-band region account for 20% dilated cardiomyopathy (DCM) cases. Much attention has been focused on assessment and interpretation TTNtv disease; however, missense non-frameshifting insertions/deletions (NFS-INDELs) are difficult assess interpret clinical diagnostic workflow....
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...
The first human mutations in GATA6 were described a cohort of patients with persistent truncus arteriosus, and the phenotypic spectrum has expanded since then. This study underscores broad by presenting two de novo mutations, both exhibiting complex cardiac defects, pancreatic, other abnormalities. Furthermore, we provided detailed overview all published genetic variation in/near to date associated phenotypes (n = 78). We conclude that most common mutation structural pancreatic...
The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics resolve variants uncertain significance (VUS) in clinical management patients families with cardiomyopathies, primary arrhythmias, congenital heart disease (CHD).
Abstract Background Schwannomatosis is a disorder characterized by predisposition to multiple benign spinal, peripheral and intracranial nerve sheath tumors (schwannomas (SWNs)). The molecular mechanism of schwannomatosis involves several genes located on chromosome 22q, SMARCB1, LZTR1, NF2 more recently, DGCR8 . Case Presentation: here, we present family with SMARCA4 -associated - this the first report association. proband presented spinal SWN at age 30y whilst her mother (deceased) had 4...