The Role of Ultra-Rare Coding Variants In ADHD
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.06.042
Abstract: Abstract Attention-Deficit Hyperactivity Disorder (ADHD) is a highly heritable childhood behavioural disorder affecting 3-6% of school-age children, and has a heritability of around 0.80. The SNP heritability, estimating the amount of risk attributed to common… read more here.
Keywords: ultra rare; adhd cases; role; variants adhd ... See more keywords
Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis.
Sign Up to like & getrecommendations! Published in 2022 at "American journal of respiratory and critical care medicine"
DOI: 10.1164/rccm.202110-2439oc
Abstract: RATIONALE Genetic studies of Idiopathic Pulmonary Fibrosis (IPF) have improved our understanding of this disease, but not all causal loci have been identified. OBJECTIVE To identify genes enriched with rare deleterious variants in IPF and… read more here.
Keywords: pulmonary fibrosis; deleterious variants; rare deleterious; variants kif15 ... See more keywords
Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients
Sign Up to like & getrecommendations! Published in 2020 at "PLoS ONE"
DOI: 10.1371/journal.pone.0239083
Abstract: Genes in the noncanonical WNT signaling pathway controlling planar cell polarity have been linked to the neural tube defect myelomeningocele. We hypothesized that some genes in the WNT signaling network have a higher mutational burden… read more here.
Keywords: wnt signaling; signaling genes; deleterious variants; 511 myelomeningocele ... See more keywords