A5009798378- Prenatal Screening and Diagnostics
- Kruppel-like factors research
- Genetic Syndromes and Imprinting
- Diet and metabolism studies
- Cardiovascular Disease and Adiposity
- Bariatric Surgery and Outcomes
- Regulation of Appetite and Obesity
- Fetal and Pediatric Neurological Disorders
- Parvovirus B19 Infection Studies
- Biochemical Analysis and Sensing Techniques
- Adipose Tissue and Metabolism
- Genetics and Physical Performance
- Cardiac electrophysiology and arrhythmias
- Growth Hormone and Insulin-like Growth Factors
- Thyroid Disorders and Treatments
- melanin and skin pigmentation
- Cardiomyopathy and Myosin Studies
- Ion channel regulation and function
- Genetic Associations and Epidemiology
- Congenital Anomalies and Fetal Surgery
- Genomics and Rare Diseases
- Hormonal Regulation and Hypertension
- Obesity, Physical Activity, Diet
- Congenital Diaphragmatic Hernia Studies
Rigshospitalet
2016-2025
Copenhagen University Hospital
2016-2025
Novo Nordisk Foundation
2015-2022
University of Copenhagen
2015-2022
Foundation Center
2021
Novo Nordisk Foundation Center for Basic Metabolic Research
2021
AimsWe studied whether variants previously associated with congenital long QT syndrome (cLQTS) have an effect on the QTc interval in a Danish population sample. Furthermore, we assessed carriers of cLQTS-associated genes are more prone to experience syncope compared non-carriers and increased mortality non-carriers.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline national guideline system facilitating this. Methods Clinical guidelines for WGS were developed implemented by Danish Fetal Medicine Society. Results Guidelines expert consensus following a review 75 studies. Diagnostic yield served as key factor prioritizing various phenotypes, improving diagnostic accuracy informing clinical decisions. Phenotypes include nuchal...
Abstract Objectives To determine the prevalence of Melanocortin-4 Receptor ( MC4R ) mutations in a cohort children and adolescents with overweight or obesity to whether treatment responses differed between carriers noncarriers. Methods Using target region capture sequencing, an mutation screen was performed 1261 Danish enrolled at tertiary multidisciplinary childhood center. Measurements anthropometrics, blood pressure, fasting biochemistry including lipid hormone levels, dual-energy X-ray...
The objective of this study was to introduce non-invasive prenatal testing (NIPT) for fetal autosomal trisomies and gender in a Danish public health setting, using semi-conductor sequencing published open source scripts analysis.Plasma-derived DNA from total 375 pregnant women (divided into three datasets) whole-genome sequenced on the Ion Proton™ platform analyzed pipeline based WISECONDOR aneuploidy detection SeqFF fraction estimation. We furthermore validated sex determination...
<h3>Background</h3> Levels of serum thyroid-stimulating hormone (TSH) indicate thyroid function, because negatively controls TSH release. Genetic variants in the vascular endothelial growth factor A (<i>VEGFA</i>) gene are associated with levels. The aim this study was to characterise association <i>VEGFA</i> a Danish cohort and identify functional variants. <h3>Methods</h3> We performed an locus for circulating levels 8445 individuals. Lead were tested allele-specific effects vitro using...
Silver-Russell syndrome (SRS) is an imprinting disorder characterized by prenatal and postnatal growth retardation, relative macrocephaly, feeding difficulties body asymmetry. Recently, upd(20)mat has been identified in few patients with SRS-like features, suggestive of a new failure. Here, we describe two male upd(20) difficulties, retardation normal cognitive development. During pregnancy, confined placental mosaicism for trisomy 20 was detected one the but not investigated further until...
Background Weight loss after bariatric surgery varies widely between individuals, partly due to genetic differences. In addition, determinants of abdominal obesity have been shown attenuate weight dietary intervention with special attention paid the rs1358980-T risk allele in VEGFA locus. Here we aimed test if updated scores (GRSs) for adiposity measures and are linked following gastric bypass surgery. Methods Five hundred seventy six patients morbid underwent Roux-en-Y bypass. A GRS BMI a...
What's already known about this topic? A reliable result from non‐invasive prenatal testing depends on sufficient amount of fetal DNA and sequencing reads. common fixed lower cutoff value fraction increases the incidence test failures compared with study‐specific values. It is not straightforward to define values What does study add? The examined relationship between Z scores fractions reads as well combination score, fraction, in 35 women carrying a trisomy 21 fetus order optimal possibly...
This study investigated the influence of MC4R variants on treatment effectiveness in a large cohort undergoing an outpatient program. Carriers loss-of-function (LoF) showed lack improvement BMI, contrast to non LoF carriers.