2019
Synergistic effects of common schizophrenia risk variants
Schrode N, Ho SM, Yamamuro K, Dobbyn A, Huckins L, Matos MR, Cheng E, Deans PJM, Flaherty E, Barretto N, Topol A, Alganem K, Abadali S, Gregory J, Hoelzli E, Phatnani H, Singh V, Girish D, Aronow B, Mccullumsmith R, Hoffman GE, Stahl EA, Morishita H, Sklar P, Brennand KJ. Synergistic effects of common schizophrenia risk variants. Nature Genetics 2019, 51: 1475-1485. PMID: 31548722, PMCID: PMC6778520, DOI: 10.1038/s41588-019-0497-5.Peer-Reviewed Original ResearchMeSH KeywordsChloride ChannelsCRISPR-Cas SystemsFemaleFurinGene EditingGene Expression RegulationGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansInduced Pluripotent Stem CellsMaleMonomeric Clathrin Assembly ProteinsPolymorphism, Single NucleotideQuantitative Trait LociSchizophreniaSNARE ProteinsConceptsExpression quantitative trait lociComplex genetic disorderEQTL genesCommon variantsQuantitative trait lociRisk variantsGene expression differencesPsychiatric disease riskCommon risk variantsPluripotent stem cellsSchizophrenia risk variantsGenetic disordersTrait lociGene perturbationsGenetic approachesExpression differencesGene editingStem cellsGeneralizable phenomenonSynaptic functionGenesVariantsCRISPRLociSpecific effectsInitial Results From An Opioid Dependence Whole Exome Sequencing Study
Gelernter J, Sherva R, Zhao H, Kranzler H, Farrer L. Initial Results From An Opioid Dependence Whole Exome Sequencing Study. European Neuropsychopharmacology 2019, 29: s732. DOI: 10.1016/j.euroneuro.2017.06.056.Peer-Reviewed Original ResearchOpioid dependenceWhole-exome sequencesAfrican AmericansCase/control studySubstance use disordersSensory neuron developmentRisk markersPain perceptionSynaptic responsesWhole-exome sequencing studiesOD diagnosisUse disordersControl studySynaptic plasticityNeuron developmentExome sequencing studiesSynapse functionEuropean AmericansPrdm12Myotonic dystrophyGene-based testsBonferroni correctionCommon risk variantsOD riskRisk variants
2017
A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder
Martin J, Walters R, Demontis D, Mattheisen M, Lee S, Robinson E, Brikell I, Ghirardi L, Larsson H, Lichtenstein P, Eriksson N, Agee M, Alipanahi B, Auton A, Bell R, Bryc K, Elson S, Fontanillas P, Furlotte N, Hinds D, Hromatka B, Huber K, Kleinman A, Litterman N, McIntyre M, Mountain J, Northover C, Pitts S, Sathirapongsasuti J, Sazonova O, Shelton J, Shringarpure S, Tian C, Tung J, Vacic V, Wilson C, Albayrak Ö, Anney R, Vasquez A, Arranz M, Asherson P, Banaschewski T, Banaschewski T, Bau C, Biederman J, Mortensen P, Børglum A, Buitelaar J, Casas M, Charach A, Cormand B, Crosbie J, Dalsgaard S, Daly M, Demontis D, Dempfle A, Doyle A, Ebstein R, Elia J, Faraone S, Faraone S, Föcker M, Franke B, Freitag C, Gelernter J, Gill M, Grevet E, Haavik J, Hakonarson H, Hawi Z, Hebebrand J, Herpertz-Dahlmann B, Hervas A, Hinney A, Hohmann S, Holmans P, Hutz M, Ickowitz A, Johansson S, Kent L, Kittel-Schneider S, Kranzler H, Kuntsi J, Lambregts-Rommelse N, Langley K, Lehmkuhl G, Lesch K, Loo S, Martin J, McGough J, Medland S, Meyer J, Mick E, Middletion F, Miranda A, Mulas F, Mulligan A, Neale B, Nelson S, Nguyen T, O’Donovan M, Oades R, Owen M, Palmason H, Ramos-Quiroga J, Reif A, Renner T, Rhode L, Ribasés M, Rietschel M, Ripke S, Rivero O, Roeyers H, Romanos M, Romanos J, Mota N, Rothenberger A, Sánchez-Mora C, Schachar R, Schäfer H, Scherag A, Schimmelmann B, Sergeant J, Sinzig J, Smalley S, Sonuga-Barke E, Steinhausen H, Sullivan P, Thapar A, Thompsom M, Todorov A, Waldman I, Walitza S, Walters R, Wang Y, Warnke A, Williams N, Witt S, Yang L, Zayats T, Zhang-James Y, Agerbo E, Als T, Bækved-Hansen M, Belliveau R, Børglum A, Bybjerg-Grauholm J, Cerrato F, Chambert K, Churchhouse C, Dalsgaard S, Daly M, Demontis D, Dumont A, Goldstein J, Grove J, Hansen C, Hauberg M, Hollegaard M, Hougaard D, Howrigan D, Huang H, Maller J, Martin A, Martin J, Mattheisen M, Moran J, Mors O, Mortensen P, Neale B, Nordentoft M, Pallesen J, Palmer D, Pedersen C, Pedersen M, Poterba T, Poulsen J, Ripke S, Robinson E, Satterstrom F, Stevens C, Turley P, Walters R, Werge T, Werge T, Mortensen P, Pedersen M, Mors O, Nordentoft M, Hougaard D, Bybjerg-Grauholm J, Wray N, Franke B, Faraone S, O’Donovan M, Thapar A, Børglum A, Neale B. A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder. Biological Psychiatry 2017, 83: 1044-1053. PMID: 29325848, PMCID: PMC5992329, DOI: 10.1016/j.biopsych.2017.11.026.Peer-Reviewed Original ResearchDe novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis
Timberlake AT, Furey CG, Choi J, Nelson-Williams C, Loring E, Galm A, Kahle K, Steinbacher D, Larysz D, Persing J, Lifton R, Bilguvar K, Mane S, Tikhonova I, Castaldi C, Knight J. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2017, 114: e7341-e7347. PMID: 28808027, PMCID: PMC5584457, DOI: 10.1073/pnas.1709255114.Peer-Reviewed Original ResearchConceptsBone morphogenetic proteinRas/ERKDe novo mutationsNovo mutationsRas/ERK pathwayDamaging de novo mutationsHigh locus heterogeneityRare syndromic diseaseCommon risk variantsInhibitor of WntSyndromic craniosynostosesNew genesParent-offspring triosSyndromic diseaseMorphogenetic proteinsNegative regulatorERK pathwayMore cranial suturesGenesMidline craniosynostosisRisk variantsWntLocus heterogeneityMutationsExome sequencing
2012
Whole-exome sequencing of a pedigree segregating asthma
DeWan AT, Egan KB, Hellenbrand K, Sorrentino K, Pizzoferrato N, Walsh KM, Bracken MB. Whole-exome sequencing of a pedigree segregating asthma. BMC Medical Genomics 2012, 13: 95. PMID: 23046476, PMCID: PMC3563469, DOI: 10.1186/1471-2350-13-95.Peer-Reviewed Original ResearchConceptsNon-asthmatic childrenWhole-exome sequencingAsthma candidate genesAsthmatic childrenAsthmaAsthma associationsAffected motherExome sequencingUnaffected fatherAsthma-susceptibility variantsPrediction scoreUnaffected offspringCommon risk variantsRisk variantsCandidate genesChildrenNonsynonymous variantsAffected offspring
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