2024
Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain
Wen C, Margolis M, Dai R, Zhang P, Przytycki P, Vo D, Bhattacharya A, Matoba N, Tang M, Jiao C, Kim M, Tsai E, Hoh C, Aygün N, Walker R, Chatzinakos C, Clarke D, Pratt H, Peters M, Gerstein M, Daskalakis N, Weng Z, Jaffe A, Kleinman J, Hyde T, Weinberger D, Bray N, Sestan N, Geschwind D, Roeder K, Gusev A, Pasaniuc B, Stein J, Love M, Pollard K, Liu C, Gandal M, Akbarian S, Abyzov A, Ahituv N, Arasappan D, Almagro Armenteros J, Beliveau B, Bendl J, Berretta S, Bharadwaj R, Bicks L, Brennand K, Capauto D, Champagne F, Chatterjee T, Chatzinakos C, Chen Y, Chen H, Cheng Y, Cheng L, Chess A, Chien J, Chu Z, Clement A, Collado-Torres L, Cooper G, Crawford G, Davila-Velderrain J, Deep-Soboslay A, Deng C, DiPietro C, Dracheva S, Drusinsky S, Duan Z, Duong D, Dursun C, Eagles N, Edelstein J, Emani P, Fullard J, Galani K, Galeev T, Gaynor S, Girdhar K, Goes F, Greenleaf W, Grundman J, Guo H, Guo Q, Gupta C, Hadas Y, Hallmayer J, Han X, Haroutunian V, Hawken N, He C, Henry E, Hicks S, Ho M, Ho L, Hoffman G, Huang Y, Huuki-Myers L, Hwang A, Iatrou A, Inoue F, Jajoo A, Jensen M, Jiang L, Jin P, Jin T, Jops C, Jourdon A, Kawaguchi R, Kellis M, Kleopoulos S, Kozlenkov A, Kriegstein A, Kundaje A, Kundu S, Lee C, Lee D, Li J, Li M, Lin X, Liu S, Liu J, Liu J, Liu S, Lou S, Loupe J, Lu D, Ma S, Ma L, Mariani J, Martinowich K, Maynard K, Mazariegos S, Meng R, Myers R, Micallef C, Mikhailova T, Ming G, Mohammadi S, Monte E, Montgomery K, Moore J, Moran J, Mukamel E, Nairn A, Nemeroff C, Ni P, Norton S, Nowakowski T, Omberg L, Page S, Park S, Patowary A, Pattni R, Pertea G, Phalke N, Pinto D, Pjanic M, Pochareddy S, Pollen A, Purmann C, Qin Z, Qu P, Quintero D, Raj T, Rajagopalan A, Reach S, Reimonn T, Ressler K, Ross D, Roussos P, Rozowsky J, Ruth M, Ruzicka W, Sanders S, Schneider J, Scuderi S, Sebra R, Seyfried N, Shao Z, Shedd N, Shieh A, Shin J, Skarica M, Snijders C, Song H, State M, Steyert M, Subburaju S, Sudhof T, Snyder M, Tao R, Therrien K, Tsai L, Urban A, Vaccarino F, van Bakel H, Voloudakis G, Wamsley B, Wang T, Wang S, Wang D, Wang Y, Warrell J, Wei Y, Weimer A, Whalen S, White K, Willsey A, Won H, Wong W, Wu H, Wu F, Wuchty S, Wylie D, Xu S, Yap C, Zeng B, Zhang C, Zhang B, Zhang J, Zhang Y, Zhou X, Ziffra R, Zeier Z, Zintel T. Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain. Science 2024, 384: eadh0829. PMID: 38781368, DOI: 10.1126/science.adh0829.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide association study lociSplicing quantitative trait lociQuantitative trait lociSplicing regulationCross-ancestryTrait lociAssociation studiesRegulatory elementsCellular contextHuman brainTranscriptome regulationCoexpression networkRisk genesAutism spectrum disorderGenesCellular heterogeneityComprehensive landscapeSpectrum disorderIsoformsSplicingIncreased cellular heterogeneityLociNeuronal maturationRegulation
2015
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
O'Dushlaine C, Rossin L, Lee P, Duncan L, Parikshak N, Newhouse S, Ripke S, Neale B, Purcell S, Posthuma D, Nurnberger J, Lee S, Faraone S, Perlis R, Mowry B, Thapar A, Goddard M, Witte J, Absher D, Agartz I, Akil H, Amin F, Andreassen O, Anjorin A, Anney R, Anttila V, Arking D, Asherson P, Azevedo M, Backlund L, Badner J, Bailey A, Banaschewski T, Barchas J, Barnes M, Barrett T, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen S, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder E, Black D, Blackwood D, Bloss C, Boehnke M, Boomsma D, Breuer R, Bruggeman R, Cormican P, Buccola N, Buitelaar J, Bunney W, Buxbaum J, Byerley W, Byrne E, Caesar S, Cahn W, Cantor R, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Mattheisen M, Cloninger C, Collier D, Cook E, Coon H, Cormand B, Corvin A, Coryell W, Craig D, Craig I, Crosbie J, Cuccaro M, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus E, Degenhardt F, Djurovic S, Donohoe G, Doyle A, Duan J, Dudbridge F, Duketis E, Ebstein R, Edenberg H, Elia J, Ennis S, Etain B, Fanous A, Farmer A, Ferrier I, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer N, Freitag C, Friedl M, Frisén L, Gallagher L, Gejman P, Georgieva L, Gershon E, Giegling I, Gill M, Gordon S, Gordon-Smith K, Green E, Greenwood T, Grice D, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines J, Hakonarson H, Hallmayer J, Hamilton S, Hamshere M, Hansen T, Hartmann A, Hautzinger M, Heath A, Henders A, Herms S, Hickie I, Hipolito M, Hoefels S, Holsboer F, Hoogendijk W, Hottenga J, Hultman C, Hus V, Ingason A, Ising M, Jamain S, Jones E, Jones I, Jones L, Tzeng J, Kähler A, Kahn R, Kandaswamy R, Keller M, Kennedy J, Kenny E, Kent L, Kim Y, Kirov G, Klauck S, Klei L, Knowles J, Kohli M, Koller D, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Längström N, Lathrop M, Lawrence J, Lawson W, Leboyer M, Ledbetter D, Lencz T, Lesch K, Levinson D, Lewis C, Li J, Lichtenstein P, Lieberman J, Lin D, Linszen D, Liu C, Lohoff F, Loo S, Lord C, Lowe J, Lucae S, MacIntyre D, Madden P, Maestrini E, Magnusson P, Mahon P, Maier W, Malhotra A, Mane S, Martin C, Martin N, Matthews K, Mattingsdal M, McCarroll S, McGhee K, McGough J, McGrath P, McGuffin P, McInnis M, McIntosh A, McKinney R, McLean A, McMahon F, McMahon W, McQuillin A, Medeiros H, Medland S, Meier S, Melle I, Meng F, Meyer J, Middeldorp C, Middleton L, Milanova V, Miranda A, Monaco A, Montgomery G, Moran J, Moreno-De-Luca D, Morken G, Morris D, Morrow E, Moskvina V, Muglia P, Mühleisen T, Muir W, Müller-Myhsok B, Murtha M, Myers R, Myin-Germeys I, Neale M, Nelson S, Nievergelt C, Nikolov I, Nimgaonkar V, Nolen W, Nöthen M, Nwulia E, Nyholt D, Oades R, Olincy A, Oliveira G, Olsen L, Ophoff R, Osby U, Owen M, Palotie A, Parr J, Paterson A, Pato C, Pato M, Penninx B, Pergadia M, Pericak-Vance M, Pickard B, Pimm J, Piven J, Potash J, Poustka F, Propping P, Puri V, Quested D, Quinn E, Ramos-Quiroga J, Rasmussen H, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice J, Rietschel M, Roeder K, Roeyers H, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders A, Sanders S, Santangelo S, Sergeant J, Schachar R, Schalling M, Schatzberg A, Scheftner W, Schellenberg G, Scherer S, Schork N, Schulze T, Schumacher J, Schwarz M, Scolnick E, Scott L, Shi J, Shilling P, Shyn S, Silverman J, Slager S, Smalley S, Smit J, Smith E, Sonuga-Barke E, St. Clair D, State M, Steffens M, Steinhausen H, Strauss J, Strohmaier J, Stroup T, Sutcliffe J, Szatmari P, Szelinger S, Thirumalai S, Thompson R, Todorov A, Tozzi F, Treutlein J, Uhr M, van den Oord E, Van Grootheest G, Van Os J, Vicente A, Vieland V, Vincent J, Visscher P, Walsh C, Wassink T, Watson S, Weissman M, Werge T, Wienker T, Wijsman E, Willemsen G, Williams N, Willsey A, Witt S, Xu W, Young A, Yu T, Zammit S, Zandi P, Zhang P, Zitman F, Zöllner S, Devlin B, Kelsoe J, Sklar P, Daly M, O'Donovan M, Craddock N, Kendler K, Weiss L, Wray N, Zhao Z, Geschwind D, Sullivan P, Smoller J, Holmans P, Breen G. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nature Neuroscience 2015, 18: 199-209. PMID: 25599223, PMCID: PMC4378867, DOI: 10.1038/nn.3922.Peer-Reviewed Original ResearchMeSH KeywordsBrainDatabases, GeneticGenetic Predisposition to DiseaseGenome-Wide Association StudyHistonesHumansMental DisordersSignal Transduction
2013
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Lee S, Ripke S, Neale B, Faraone S, Purcell S, Perlis R, Mowry B, Thapar A, Goddard M, Witte J, Absher D, Agartz I, Akil H, Amin F, Andreassen O, Anjorin A, Anney R, Anttila V, Arking D, Asherson P, Azevedo M, Backlund L, Badner J, Bailey A, Banaschewski T, Barchas J, Barnes M, Barrett T, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen S, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder E, Black D, Blackwood D, Bloss C, Boehnke M, Boomsma D, Breen G, Breuer R, Bruggeman R, Cormican P, Buccola N, Buitelaar J, Bunney W, Buxbaum J, Byerley W, Byrne E, Caesar S, Cahn W, Cantor R, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger C, Collier D, Cook E, Coon H, Cormand B, Corvin A, Coryell W, Craig D, Craig I, Crosbie J, Cuccaro M, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus E, Degenhardt F, Djurovic S, Donohoe G, Doyle A, Duan J, Dudbridge F, Duketis E, Ebstein R, Edenberg H, Elia J, Ennis S, Etain B, Fanous A, Farmer A, Ferrier I, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer N, Freitag C, Friedl M, Frisén L, Gallagher L, Gejman P, Georgieva L, Gershon E, Geschwind D, Giegling I, Gill M, Gordon S, Gordon-Smith K, Green E, Greenwood T, Grice D, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines J, Hakonarson H, Hallmayer J, Hamilton S, Hamshere M, Hansen T, Hartmann A, Hautzinger M, Heath A, Henders A, Herms S, Hickie I, Hipolito M, Hoefels S, Holmans P, Holsboer F, Hoogendijk W, Hottenga J, Hultman C, Hus V, Ingason A, Ising M, Jamain S, Jones E, Jones I, Jones L, Tzeng J, Kähler A, Kahn R, Kandaswamy R, Keller M, Kennedy J, Kenny E, Kent L, Kim Y, Kirov G, Klauck S, Klei L, Knowles J, Kohli M, Koller D, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Långström N, Lathrop M, Lawrence J, Lawson W, Leboyer M, Ledbetter D, Lee P, Lencz T, Lesch K, Levinson D, Lewis C, Li J, Lichtenstein P, Lieberman J, Lin D, Linszen D, Liu C, Lohoff F, Loo S, Lord C, Lowe J, Lucae S, MacIntyre D, Madden P, Maestrini E, Magnusson P, Mahon P, Maier W, Malhotra A, Mane S, Martin C, Martin N, Mattheisen M, Matthews K, Mattingsdal M, McCarroll S, McGhee K, McGough J, McGrath P, McGuffin P, McInnis M, McIntosh A, McKinney R, McLean A, McMahon F, McMahon W, McQuillin A, Medeiros H, Medland S, Meier S, Melle I, Meng F, Meyer J, Middeldorp C, Middleton L, Milanova V, Miranda A, Monaco A, Montgomery G, Moran J, Moreno-De-Luca D, Morken G, Morris D, Morrow E, Moskvina V, Muglia P, Mühleisen T, Muir W, Müller-Myhsok B, Murtha M, Myers R, Myin-Germeys I, Neale M, Nelson S, Nievergelt C, Nikolov I, Nimgaonkar V, Nolen W, Nöthen M, Nurnberger J, Nwulia E, Nyholt D, O'Dushlaine C, Oades R, Olincy A, Oliveira G, Olsen L, Ophoff R, Osby U, Owen M, Palotie A, Parr J, Paterson A, Pato C, Pato M, Penninx B, Pergadia M, Pericak-Vance M, Pickard B, Pimm J, Piven J, Posthuma D, Potash J, Poustka F, Propping P, Puri V, Quested D, Quinn E, Ramos-Quiroga J, Rasmussen H, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice J, Rietschel M, Roeder K, Roeyers H, Rossin L, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders A, Sanders S, Santangelo S, Sergeant J, Schachar R, Schalling M, Schatzberg A, Scheftner W, Schellenberg G, Scherer S, Schork N, Schulze T, Schumacher J, Schwarz M, Scolnick E, Scott L, Shi J, Shilling P, Shyn S, Silverman J, Slager S, Smalley S, Smit J, Smith E, Sonuga-Barke E, St. Clair D, State M, Steffens M, Steinhausen H, Strauss J, Strohmaier J, Stroup T, Sutcliffe J, Szatmari P, Szelinger S, Thirumalai S, Thompson R, Todorov A, Tozzi F, Treutlein J, Uhr M, van den Oord E, Van Grootheest G, Van Os J, Vicente A, Vieland V, Vincent J, Visscher P, Walsh C, Wassink T, Watson S, Weissman M, Werge T, Wienker T, Wijsman E, Willemsen G, Williams N, Willsey A, Witt S, Xu W, Young A, Yu T, Zammit S, Zandi P, Zhang P, Zitman F, Zöllner S, Devlin B, Kelsoe J, Sklar P, Daly M, O'Donovan M, Craddock N, Sullivan P, Smoller J, Kendler K, Wray N. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics 2013, 45: 984-994. PMID: 23933821, PMCID: PMC3800159, DOI: 10.1038/ng.2711.Peer-Reviewed Original ResearchMeSH KeywordsAdultAttention Deficit Disorder with HyperactivityBipolar DisorderChildChild Development Disorders, PervasiveCrohn DiseaseDepressive Disorder, MajorGenetic HeterogeneityGenetic Predisposition to DiseaseGenome-Wide Association StudyGenome, HumanHumansInheritance PatternsMental DisordersPolymorphism, Single NucleotideSchizophrenia
2011
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism. Neuron 2011, 70: 863-885. PMID: 21658581, PMCID: PMC3939065, DOI: 10.1016/j.neuron.2011.05.002.Peer-Reviewed Original ResearchAdolescentCadherinsCalcium-Binding ProteinsCell Adhesion Molecules, NeuronalChildChild Development Disorders, PervasiveChild, PreschoolChromosomes, Human, Pair 16Chromosomes, Human, Pair 7Chromosomes, Human, XDNA Copy Number VariationsFamily HealthFemaleGene DuplicationGene Expression ProfilingGenome-Wide Association StudyGenotypeHumansMaleNerve Tissue ProteinsNeural Cell Adhesion MoleculesOligonucleotide Array Sequence AnalysisPhenotypeProteinsSiblingsUbiquitin ThiolesteraseUbiquitin-Specific Peptidase 7Williams Syndrome