2024
Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes
Olfson E, Farhat L, Liu W, Vitulano L, Zai G, Lima M, Parent J, Polanczyk G, Cappi C, Kennedy J, Fernandez T. Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes. Nature Communications 2024, 15: 5870. PMID: 38997333, PMCID: PMC11245598, DOI: 10.1038/s41467-024-50247-7.Peer-Reviewed Original ResearchConceptsDNA sequencesRisk genesHigh-confidence risk genesWhole-exome DNA sequencingSequencing of familiesIdentified de novoLysine demethylase 5BDNA variantsTrio cohortBiological pathwaysGenesSequencing cohortGenetic factorsChildhood neurodevelopmental disordersAttention-deficit/hyperactivity disorderSequenceVariantsADHD riskNeurodevelopmental disordersKDM5BDNAMutationsFamilyLysineDiscovery
2013
Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome
Singh R, Smith E, Fathzadeh M, Liu W, Go G, Subrahmanyan L, Faramarzi S, McKenna W, Mani A. Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome. Human Mutation 2013, 34: 1221-1225. PMID: 23703864, PMCID: PMC3745535, DOI: 10.1002/humu.22360.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedCase-Control StudiesCoronary DiseaseEuropeFemaleGenetic Predisposition to DiseaseGenetic VariationGlycosylationHumansLow Density Lipoprotein Receptor-Related Protein-6MaleMetabolic SyndromeMiddle AgedMutationPedigreePhylogenySequence AlignmentUnited StatesWnt ProteinsYoung AdultConceptsCoronary artery diseaseMetabolic syndromeLRP6 mutationFamilial coronary artery diseaseArtery diseaseDisease populationSyndromeConserved glycosylation siteNovel mutationsFunction mutationsPropeller domainRare mutationsEuropean controlsLRP6MutationsCritical roleMetabolic traitsWhite AmericansPrevalenceDisease