2024
80. IMPLICATION OF COMPLEX STRUCTURAL GENOME VARIATION IN THE GENETIC ARCHITECTURE OF NEUROPSYCHIATRIC DISORDERS: INSIGHTS FROM HUMAN POPULATION ANALYSIS AND FROM POSTMORTEM BRAINS OF INDIVIDUALS WITH PSYCHIATRIC DISORDERS
Zhou B, Arthur J, Guo H, Kim T, Huang Y, Pattni R, Song G, Palejev D, Dohna H, Roussos P, Kundaje A, Hallmayer J, Snyder M, Wong, Urban A. 80. IMPLICATION OF COMPLEX STRUCTURAL GENOME VARIATION IN THE GENETIC ARCHITECTURE OF NEUROPSYCHIATRIC DISORDERS: INSIGHTS FROM HUMAN POPULATION ANALYSIS AND FROM POSTMORTEM BRAINS OF INDIVIDUALS WITH PSYCHIATRIC DISORDERS. European Neuropsychopharmacology 2024, 87: 93. DOI: 10.1016/j.euroneuro.2024.08.194.Peer-Reviewed Original ResearchWhole-genome sequencingComplex structural variationsHuman genomeMarker SNPsContinental populationsRisk allelesShort-read whole-genome sequencingSingle-nuclei RNA-seqFunctional genomics dataComplex genetic architectureDNA sequence variantsComplex genetic componentPost-mortem brainsPopulation-scale studiesDifferentially expressed genesVariant typeIntegration of genotypesStructural variationsGWAS lociGenome biologyCandidate lociIndividual genomesLinkage analysisGenomic analysisGenomic data
2020
Genetic Stroke Syndromes
Falcone G, Amin H. Genetic Stroke Syndromes. 2020, 123-133. DOI: 10.1007/978-3-030-52552-1_10.Peer-Reviewed Original Research
2017
Multiplexed enrichment of rare DNA variants via sequence-selective and temperature-robust amplification
Wu LR, Chen SX, Wu Y, Patel AA, Zhang DY. Multiplexed enrichment of rare DNA variants via sequence-selective and temperature-robust amplification. Nature Biomedical Engineering 2017, 1: 714-723. PMID: 29805844, PMCID: PMC5969535, DOI: 10.1038/s41551-017-0126-5.Peer-Reviewed Original Research
2016
Genetic variants in CETP increase risk of intracerebral hemorrhage
Anderson CD, Falcone GJ, Phuah C, Radmanesh F, Brouwers HB, Battey TW, Biffi A, Peloso GM, Liu DJ, Ayres AM, Goldstein JN, Viswanathan A, Greenberg SM, Selim M, Meschia JF, Brown DL, Worrall BB, Silliman SL, Tirschwell DL, Flaherty ML, Kraft P, Jagiella JM, Schmidt H, Hansen BM, Jimenez‐Conde J, Giralt‐Steinhauer E, Elosua R, Cuadrado‐Godia E, Soriano C, van Nieuwenhuizen K, Klijn CJ, Rannikmae K, Samarasekera N, Salman R, Sudlow CL, Deary IJ, Morotti A, Pezzini A, Pera J, Urbanik A, Pichler A, Enzinger C, Norrving B, Montaner J, Fernandez‐Cadenas I, Delgado P, Roquer J, Lindgren A, Slowik A, Schmidt R, Kidwell CS, Kittner SJ, Waddy SP, Langefeld CD, Abecasis G, Willer CJ, Kathiresan S, Woo D, Rosand J, Consortium O. Genetic variants in CETP increase risk of intracerebral hemorrhage. Annals Of Neurology 2016, 80: 730-740. PMID: 27717122, PMCID: PMC5115931, DOI: 10.1002/ana.24780.Peer-Reviewed Original ResearchConceptsGenetic variantsCandidate gene analysisDNA sequence variantsGlobal Lipids Genetics ConsortiumDNA sequencesOngoing therapeutic developmentsSequence variantsIndependent variantsNominal associationCETP locusGenetics ConsortiumEuropean ancestryCETP variantsLociTherapeutic developmentVariantsGenetic risk scoreCETPDiscovery cohortGenetic scoreAncestryReplicationSequenceAnn NeurolAdverse cerebrovascular outcomes
2000
Identification of polymorphisms in the GABAB receptor gene and linkage study of attention‐deficit hyperactivity disorder
Barr C, Feng Y, Wigg K, Roberts W, Malone M, Schachar R, Tannock R, Gruen J, Goei V, Kennedy J. Identification of polymorphisms in the GABAB receptor gene and linkage study of attention‐deficit hyperactivity disorder. International Journal Of Genomics 2000, 1: 194-201. DOI: 10.1002/1438-826x(200012)1:5/6<194::aid-gnfd194>3.0.co;2-2.Peer-Reviewed Original ResearchDNA sequence variantsReceptor geneInteresting candidate genesIdentification of polymorphismsChromosome locationDNA sequencesCandidate genesReceptor 1 geneGenetic linkageGenetic relationshipsLinkage analysisSequence variantsGenesGABAB receptor geneChromosome 6pCommon variantsHuman leukocyte antigen (HLA) regionLinkage studiesComorbid reading disabilitiesAntigen regionPhenotypeGenetic linkNumber of neurotransmittersReceptorsRole
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