Blar i Faculty of Medicine på tidsskrift "Human Molecular Genetics"
Viser treff 1-7 av 7
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Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios
(Journal article; Peer reviewed, 2020)Parental genetic relatedness may lead to adverse health and fitness outcomes in the offspring. However, the degree to which it affects human delivery timing is unknown. We use genotype data from ≃25 000 parent-offspring ... -
Detailed stratified GWAS analysis for severe COVID-19 in four European populations
(Journal article; Peer reviewed, 2022)Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease ... -
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects
(Journal article; Peer reviewed, 2024)Hepatocyte nuclear factor-4 alpha (HNF-4A) regulates genes with roles in glucose metabolism and β-cell development. Although pathogenic HNF4A variants are commonly associated with maturity-onset diabetes of the young (MODY1; ... -
Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics
(Peer reviewed; Journal article, 2018-02)Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated ... -
Maternal BMI at the start of pregnancy and offspring epigenome-wide DNA methylation: findings from the pregnancy and childhood epigenetics (PACE) consortium
(Peer reviewed; Journal article, 2017-10)Pre-pregnancy maternal obesity is associated with adverse offspring outcomes at birth and later in life. Individual studies have shown that epigenetic modifications such as DNA methylation could contribute. Within the ... -
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions
(Journal article; Peer reviewed, 2021)Ocular pterygium-digital keloid dysplasia (OPDKD) presents in childhood with ingrowth of vascularized connective tissue on the cornea leading to severely reduced vision. Later the patients develop keloids on digits but are ... -
A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity
(Peer reviewed; Journal article, 2019)Although hundreds of genome-wide association studies-implicated loci have been reported for adult obesity-related traits, less is known about the genetics specific for early-onset obesity and with only a few studies conducted ...