Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Shaun Purcell, Ph.D.

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Overview

Research
research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
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  1. R21MD012738 (PURCELL, SHAUN M) Sep 17, 2019 - Jun 30, 2021
    NIH/NIMHD
    Enhanced Measurement and Modeling of Sleep Electrophysiology to Better Understand Sleep Disparities
    Role: Principal Investigator
  2. R21HL145492 (PURCELL, SHAUN M) Apr 1, 2019 - Mar 31, 2021
    NIH/NHLBI
    Sleep Physiology Dynamics: Quantification, Characterization and Genetic Dissection
    Role: Principal Investigator
  3. R01HL146339 (PURCELL, SHAUN M) Jan 22, 2019 - Dec 31, 2021
    NIH/NHLBI
    Leveraging National Sleep Research Resource Data for Personalized Sleep Profiling
    Role: Principal Investigator
  4. R03MH108908 (PURCELL, SHAUN M) Aug 15, 2016 - Jun 30, 2018
    NIH/NIMH
    Genome-wide association study of sleep spindles and related polysomnography measures
    Role: Principal Investigator
  5. R01HG005827 (PURCELL, SHAUN M) Jul 1, 2016 - Jun 30, 2017
    NIH/NHGRI
    Software for the analysis of large-scale genotyping and sequencing studies
    Role: Principal Investigator

Bibliographic
selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Djonlagic I, Mariani S, Fitzpatrick AL, Van Der Klei VMGTH, Johnson DA, Wood AC, Seeman T, Nguyen HT, Prerau MJ, Luchsinger JA, Dzierzewski JM, Rapp SR, Tranah GJ, Yaffe K, Burdick KE, Stone KL, Redline S, Purcell SM. Publisher Correction: Macro and micro sleep architecture and cognitive performance in older adults. Nat Hum Behav. 2020 Dec 16. PMID: 33328625.
    Citations:    
  2. Djonlagic I, Mariani S, Fitzpatrick AL, Van Der Klei VMGTH, Johnson DA, Wood AC, Seeman T, Nguyen HT, Prerau MJ, Luchsinger JA, Dzierzewski JM, Rapp SR, Tranah GJ, Yaffe K, Burdick KE, Stone KL, Redline S, Purcell SM. Macro and micro sleep architecture and cognitive performance in older adults. Nat Hum Behav. 2020 Nov 16. PMID: 33199858.
    Citations:    
  3. Nguyen TH, Dobbyn A, Brown RC, Riley BP, Buxbaum JD, Pinto D, Purcell SM, Sullivan PF, He X, Stahl EA. mTADA is a framework for identifying risk genes from de novo mutations in multiple traits. Nat Commun. 2020 06 10; 11(1):2929. PMID: 32522981.
    Citations:    Fields:    Translation:Humans
  4. Won CHJ, Reid M, Sofer T, Azarbarzin A, Purcell S, White D, Wellman A, Sands S, Redline S. Sex differences in obstructive sleep apnea phenotypes, the multi-ethnic study of atherosclerosis. Sleep. 2020 May 12; 43(5). PMID: 31687772.
    Citations: 2     Fields:    
  5. Sham PC, Purcell SM, Cherny SS, Neale MC, Neale BM. Statistical Power and the Classical Twin Design. Twin Res Hum Genet. 2020 04; 23(2):87-89. PMID: 32638684.
    Citations:    Fields:    
  6. Smagula SF, Sofer T, Guo N, Prerau M, Purcell S, Mariani S, Yaffe K, Redline S, Stone KL. Spectral sleep electroencephalographic correlates of sleep efficiency, and discrepancies between actigraphy and self-reported measures, in older men. J Sleep Res. 2020 Mar 21; e13033. PMID: 32198950.
    Citations:    Fields:    
  7. Ghoshal A, Uygun DS, Yang L, McNally JM, Lopez-Huerta VG, Arias-Garcia MA, Baez-Nieto D, Allen A, Fitzgerald M, Choi S, Zhang Q, Hope JM, Yan K, Mao X, Nicholson TB, Imaizumi K, Fu Z, Feng G, Brown RE, Strecker RE, Purcell SM, Pan JQ. Effects of a patient-derived de novo coding alteration of CACNA1I in mice connect a schizophrenia risk gene with sleep spindle deficits. Transl Psychiatry. 2020 01 23; 10(1):29. PMID: 32066662.
    Citations:    Fields:    
  8. Liang J, Cade BE, He KY, Wang H, Lee J, Sofer T, Williams S, Li R, Chen H, Gottlieb DJ, Evans DS, Guo X, Gharib SA, Hale L, Hillman DR, Lutsey PL, Mukherjee S, Ochs-Balcom HM, Palmer LJ, Rhodes J, Purcell S, Patel SR, Saxena R, Stone KL, Tang W, Tranah GJ, Boerwinkle E, Lin X, Liu Y, Psaty BM, Vasan RS, Cho MH, Manichaikul A, Silverman EK, Barr RG, Rich SS, Rotter JI, Wilson JG, Redline S, Zhu X. Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level. Am J Hum Genet. 2019 11 07; 105(5):1057-1068. PMID: 31668705.
    Citations:    Fields:    Translation:HumansCells
  9. Bigdeli TB, Genovese G, Georgakopoulos P, Meyers JL, Peterson RE, Iyegbe CO, Medeiros H, Valderrama J, Achtyes ED, Kotov R, Stahl EA, Abbott C, Azevedo MH, Belliveau RA, Bevilacqua E, Bromet EJ, Byerley W, Carvalho CB, Chapman SB, DeLisi LE, Dumont AL, O'Dushlaine C, Evgrafov OV, Fochtmann LJ, Gage D, Kennedy JL, Kinkead B, Macedo A, Moran JL, Morley CP, Dewan MJ, Nemesh J, Perkins DO, Purcell SM, Rakofsky JJ, Scolnick EM, Sklar BM, Sklar P, Smoller JW, Sullivan PF, Macciardi F, Marder SR, Gur RC, Gur RE, Braff DL, Nicolini H, Escamilla MA, Vawter MP, Sobell JL, Malaspina D, Lehrer DS, Buckley PF, Rapaport MH, Knowles JA, Fanous AH, Pato MT, McCarroll SA, Pato CN. Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry. Mol Psychiatry. 2020 10; 25(10):2455-2467. PMID: 31591465.
    Citations: 5     Fields:    
  10. Szatkiewicz JP, Fromer M, Nonneman RJ, Ancalade N, Johnson JS, Stahl EA, Rees E, Bergen SE, Hultman CM, Kirov G, O'Donovan M, Owen M, Holmans P, Sklar P, Sullivan PF, Purcell SM, Crowley JJ, Ruderfer DM. Characterization of Single Gene Copy Number Variants in Schizophrenia. Biol Psychiatry. 2020 04 15; 87(8):736-744. PMID: 31767120.
    Citations: 1     Fields:    
  11. Wang H, Lane JM, Jones SE, Dashti HS, Ollila HM, Wood AR, van Hees VT, Brumpton B, Winsvold BS, Kantojärvi K, Palviainen T, Cade BE, Sofer T, Song Y, Patel K, Anderson SG, Bechtold DA, Bowden J, Emsley R, Kyle SD, Little MA, Loudon AS, Scheer FAJL, Purcell SM, Richmond RC, Spiegelhalder K, Tyrrell J, Zhu X, Hublin C, Kaprio JA, Kristiansson K, Sulkava S, Paunio T, Hveem K, Nielsen JB, Willer CJ, Zwart JA, Strand LB, Frayling TM, Ray D, Lawlor DA, Rutter MK, Weedon MN, Redline S, Saxena R. Genome-wide association analysis of self-reported daytime sleepiness identifies 42 loci that suggest biological subtypes. Nat Commun. 2019 08 13; 10(1):3503. PMID: 31409809.
    Citations: 5     Fields:    Translation:Humans
  12. Barfield R, Wang H, Liu Y, Brody JA, Swenson B, Li R, Bartz TM, Sotoodehnia N, Chen YI, Cade BE, Chen H, Patel SR, Zhu X, Gharib SA, Johnson WC, Rotter JI, Saxena R, Purcell S, Lin X, Redline S, Sofer T. Epigenome-wide association analysis of daytime sleepiness in the Multi-Ethnic Study of Atherosclerosis reveals African-American-specific associations. Sleep. 2019 08 01; 42(8). PMID: 31139831.
    Citations:    Fields:    Translation:HumansCells
  13. Huckins LM, Dobbyn A, Ruderfer DM, Hoffman G, Wang W, Pardiñas AF, Rajagopal VM, Als TD, T Nguyen H, Girdhar K, Boocock J, Roussos P, Fromer M, Kramer R, Domenici E, Gamazon ER, Purcell S, Demontis D, Børglum AD, Walters JTR, O'Donovan MC, Sullivan P, Owen MJ, Devlin B, Sieberts SK, Cox NJ, Im HK, Sklar P, Stahl EA. Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nat Genet. 2019 Jun; 51(6):1068. PMID: 31086353.
    Citations:    Fields:    
  14. Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman JRI, Gaspar HA, de Leeuw CA, Steinberg S, Pavlides JMW, Trzaskowski M, Byrne EM, Pers TH, Holmans PA, Richards AL, Abbott L, Agerbo E, Akil H, Albani D, Alliey-Rodriguez N, Als TD, Anjorin A, Antilla V, Awasthi S, Badner JA, Bækvad-Hansen M, Barchas JD, Bass N, Bauer M, Belliveau R, Bergen SE, Pedersen CB, Bøen E, Boks MP, Boocock J, Budde M, Bunney W, Burmeister M, Bybjerg-Grauholm J, Byerley W, Casas M, Cerrato F, Cervantes P, Chambert K, Charney AW, Chen D, Churchhouse C, Clarke TK, Coryell W, Craig DW, Cruceanu C, Curtis D, Czerski PM, Dale AM, de Jong S, Degenhardt F, Del-Favero J, DePaulo JR, Djurovic S, Dobbyn AL, Dumont A, Elvsåshagen T, Escott-Price V, Fan CC, Fischer SB, Flickinger M, Foroud TM, Forty L, Frank J, Fraser C, Freimer NB, Frisén L, Gade K, Gage D, Garnham J, Giambartolomei C, Pedersen MG, Goldstein J, Gordon SD, Gordon-Smith K, Green EK, Green MJ, Greenwood TA, Grove J, Guan W, Guzman-Parra J, Hamshere ML, Hautzinger M, Heilbronner U, Herms S, Hipolito M, Hoffmann P, Holland D, Huckins L, Jamain S, Johnson JS, Juréus A, Kandaswamy R, Karlsson R, Kennedy JL, Kittel-Schneider S, Knowles JA, Kogevinas M, Koller AC, Kupka R, Lavebratt C, Lawrence J, Lawson WB, Leber M, Lee PH, Levy SE, Li JZ, Liu C, Lucae S, Maaser A, MacIntyre DJ, Mahon PB, Maier W, Martinsson L, McCarroll S, McGuffin P, McInnis MG, McKay JD, Medeiros H, Medland SE, Meng F, Milani L, Montgomery GW, Morris DW, Mühleisen TW, Mullins N, Nguyen H, Nievergelt CM, Adolfsson AN, Nwulia EA, O'Donovan C, Loohuis LMO, Ori APS, Oruc L, Ösby U, Perlis RH, Perry A, Pfennig A, Potash JB, Purcell SM, Regeer EJ, Reif A, Reinbold CS, Rice JP, Rivas F, Rivera M, Roussos P, Ruderfer DM, Ryu E, Sánchez-Mora C, Schatzberg AF, Scheftner WA, Schork NJ, Shannon Weickert C, Shehktman T, Shilling PD, Sigurdsson E, Slaney C, Smeland OB, Sobell JL, Søholm Hansen C, Spijker AT, St Clair D, Steffens M, Strauss JS, Streit F, Strohmaier J, Szelinger S, Thompson RC, Thorgeirsson TE, Treutlein J, Vedder H, Wang W, Watson SJ, Weickert TW, Witt SH, Xi S, Xu W, Young AH, Zandi P, Zhang P, Zöllner S, Adolfsson R, Agartz I, Alda M, Backlund L, Baune BT, Bellivier F, Berrettini WH, Biernacka JM, Blackwood DHR, Boehnke M, Børglum AD, Corvin A, Craddock N, Daly MJ, Dannlowski U, Esko T, Etain B, Frye M, Fullerton JM, Gershon ES, Gill M, Goes F, Grigoroiu-Serbanescu M, Hauser J, Hougaard DM, Hultman CM, Jones I, Jones LA, Kahn RS, Kirov G, Landén M, Leboyer M, Lewis CM, Li QS, Lissowska J, Martin NG, Mayoral F, McElroy SL, McIntosh AM, McMahon FJ, Melle I, Metspalu A, Mitchell PB, Morken G, Mors O, Mortensen PB, Müller-Myhsok B, Myers RM, Neale BM, Nimgaonkar V, Nordentoft M, Nöthen MM, O'Donovan MC, Oedegaard KJ, Owen MJ, Paciga SA, Pato C, Pato MT, Posthuma D, Ramos-Quiroga JA, Ribasés M, Rietschel M, Rouleau GA, Schalling M, Schofield PR, Schulze TG, Serretti A, Smoller JW, Stefansson H, Stefansson K, Stordal E, Sullivan PF, Turecki G, Vaaler AE, Vieta E, Vincent JB, Werge T, Nurnberger JI, Wray NR, Di Florio A, Edenberg HJ, Cichon S, Ophoff RA, Scott LJ, Andreassen OA, Kelsoe J, Sklar P. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nat Genet. 2019 05; 51(5):793-803. PMID: 31043756.
    Citations: 74     Fields:    Translation:Humans
  15. Cade BE, Chen H, Stilp AM, Louie T, Ancoli-Israel S, Arens R, Barfield R, Below JE, Cai J, Conomos MP, Evans DS, Frazier-Wood AC, Gharib SA, Gleason KJ, Gottlieb DJ, Hillman DR, Johnson WC, Lederer DJ, Lee J, Loredo JS, Mei H, Mukherjee S, Patel SR, Post WS, Purcell SM, Ramos AR, Reid KJ, Rice K, Shah NA, Sofer T, Taylor KD, Thornton TA, Wang H, Yaffe K, Zee PC, Hanis CL, Palmer LJ, Rotter JI, Stone KL, Tranah GJ, Wilson JG, Sunyaev SR, Laurie CC, Zhu X, Saxena R, Lin X, Redline S. Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep. PLoS Genet. 2019 04; 15(4):e1007739. PMID: 30990817.
    Citations: 2     Fields:    Translation:Humans
  16. Azarbarzin A, Sands SA, Stone KL, Taranto-Montemurro L, Messineo L, Terrill PI, Ancoli-Israel S, Ensrud K, Purcell S, White DP, Redline S, Wellman A. The hypoxic burden of sleep apnoea predicts cardiovascular disease-related mortality: the Osteoporotic Fractures in Men Study and the Sleep Heart Health Study. Eur Heart J. 2019 04 07; 40(14):1149-1157. PMID: 30376054.
    Citations: 21     Fields:    Translation:Humans
  17. Huckins LM, Dobbyn A, Ruderfer DM, Hoffman G, Wang W, Pardiñas AF, Rajagopal VM, Als TD, T Nguyen H, Girdhar K, Boocock J, Roussos P, Fromer M, Kramer R, Domenici E, Gamazon ER, Purcell S, Demontis D, Børglum AD, Walters JTR, O'Donovan MC, Sullivan P, Owen MJ, Devlin B, Sieberts SK, Cox NJ, Im HK, Sklar P, Stahl EA. Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nat Genet. 2019 04; 51(4):659-674. PMID: 30911161.
    Citations: 11     Fields:    Translation:HumansCells
  18. Dashti HS, Jones SE, Wood AR, Lane JM, van Hees VT, Wang H, Rhodes JA, Song Y, Patel K, Anderson SG, Beaumont RN, Bechtold DA, Bowden J, Cade BE, Garaulet M, Kyle SD, Little MA, Loudon AS, Luik AI, Scheer FAJL, Spiegelhalder K, Tyrrell J, Gottlieb DJ, Tiemeier H, Ray DW, Purcell SM, Frayling TM, Redline S, Lawlor DA, Rutter MK, Weedon MN, Saxena R. Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates. Nat Commun. 2019 03 07; 10(1):1100. PMID: 30846698.
    Citations: 24     Fields:    Translation:Humans
  19. Lane JM, Jones SE, Dashti HS, Wood AR, Aragam KG, van Hees VT, Strand LB, Winsvold BS, Wang H, Bowden J, Song Y, Patel K, Anderson SG, Beaumont RN, Bechtold DA, Cade BE, Haas M, Kathiresan S, Little MA, Luik AI, Loudon AS, Purcell S, Richmond RC, Scheer FAJL, Schormair B, Tyrrell J, Winkelman JW, Winkelmann J, Hveem K, Zhao C, Nielsen JB, Willer CJ, Redline S, Spiegelhalder K, Kyle SD, Ray DW, Zwart JA, Brumpton B, Frayling TM, Lawlor DA, Rutter MK, Weedon MN, Saxena R. Biological and clinical insights from genetics of insomnia symptoms. Nat Genet. 2019 03; 51(3):387-393. PMID: 30804566.
    Citations: 11     Fields:    Translation:HumansCells
  20. Wang H, Cade BE, Sofer T, Sands SA, Chen H, Browning SR, Stilp AM, Louie TL, Thornton TA, Johnson WC, Below JE, Conomos MP, Evans DS, Gharib SA, Guo X, Wood AC, Mei H, Yaffe K, Loredo JS, Ramos AR, Barrett-Connor E, Ancoli-Israel S, Zee PC, Arens R, Shah NA, Taylor KD, Tranah GJ, Stone KL, Hanis CL, Wilson JG, Gottlieb DJ, Patel SR, Rice K, Post WS, Rotter JI, Sunyaev SR, Cai J, Lin X, Purcell SM, Laurie CC, Saxena R, Redline S, Zhu X. Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans. Hum Mol Genet. 2019 02 15; 28(4):675-687. PMID: 30403821.
    Citations: 4     Fields:    Translation:Humans
  21. Charney AW, Stahl EA, Green EK, Chen CY, Moran JL, Chambert K, Belliveau RA, Forty L, Gordon-Smith K, Lee PH, Bromet EJ, Buckley PF, Escamilla MA, Fanous AH, Fochtmann LJ, Lehrer DS, Malaspina D, Marder SR, Morley CP, Nicolini H, Perkins DO, Rakofsky JJ, Rapaport MH, Medeiros H, Sobell JL, Backlund L, Bergen SE, Juréus A, Schalling M, Lichtenstein P, Knowles JA, Burdick KE, Jones I, Jones LA, Hultman CM, Perlis R, Purcell SM, McCarroll SA, Pato CN, Pato MT, Di Florio A, Craddock N, Landén M, Smoller JW, Ruderfer DM, Sklar P. Contribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Cases. Biol Psychiatry. 2019 07 15; 86(2):110-119. PMID: 30686506.
    Citations: 2     Fields:    Translation:Humans
  22. Özbek U, Lin HM, Lin Y, Weeks DE, Chen W, Shaffer JR, Purcell SM, Feingold E. Statistics for X-chromosome associations. Genet Epidemiol. 2018 09; 42(6):539-550. PMID: 29900581.
    Citations:    Fields:    Translation:HumansCells
  23. Wray NR, Ripke S, Mattheisen M, Trzaskowski M, Byrne EM, Abdellaoui A, Adams MJ, Agerbo E, Air TM, Andlauer TMF, Bacanu SA, Bækvad-Hansen M, Beekman AFT, Bigdeli TB, Binder EB, Blackwood DRH, Bryois J, Buttenschøn HN, Bybjerg-Grauholm J, Cai N, Castelao E, Christensen JH, Clarke TK, Coleman JIR, Colodro-Conde L, Couvy-Duchesne B, Craddock N, Crawford GE, Crowley CA, Dashti HS, Davies G, Deary IJ, Degenhardt F, Derks EM, Direk N, Dolan CV, Dunn EC, Eley TC, Eriksson N, Escott-Price V, Kiadeh FHF, Finucane HK, Forstner AJ, Frank J, Gaspar HA, Gill M, Giusti-Rodríguez P, Goes FS, Gordon SD, Grove J, Hall LS, Hannon E, Hansen CS, Hansen TF, Herms S, Hickie IB, Hoffmann P, Homuth G, Horn C, Hottenga JJ, Hougaard DM, Hu M, Hyde CL, Ising M, Jansen R, Jin F, Jorgenson E, Knowles JA, Kohane IS, Kraft J, Kretzschmar WW, Krogh J, Kutalik Z, Lane JM, Li Y, Li Y, Lind PA, Liu X, Lu L, MacIntyre DJ, MacKinnon DF, Maier RM, Maier W, Marchini J, Mbarek H, McGrath P, McGuffin P, Medland SE, Mehta D, Middeldorp CM, Mihailov E, Milaneschi Y, Milani L, Mill J, Mondimore FM, Montgomery GW, Mostafavi S, Mullins N, Nauck M, Ng B, Nivard MG, Nyholt DR, O'Reilly PF, Oskarsson H, Owen MJ, Painter JN, Pedersen CB, Pedersen MG, Peterson RE, Pettersson E, Peyrot WJ, Pistis G, Posthuma D, Purcell SM, Quiroz JA, Qvist P, Rice JP, Riley BP, Rivera M, Saeed Mirza S, Saxena R, Schoevers R, Schulte EC, Shen L, Shi J, Shyn SI, Sigurdsson E, Sinnamon GBC, Smit JH, Smith DJ, Stefansson H, Steinberg S, Stockmeier CA, Streit F, Strohmaier J, Tansey KE, Teismann H, Teumer A, Thompson W, Thomson PA, Thorgeirsson TE, Tian C, Traylor M, Treutlein J, Trubetskoy V, Uitterlinden AG, Umbricht D, Van der Auwera S, van Hemert AM, Viktorin A, Visscher PM, Wang Y, Webb BT, Weinsheimer SM, Wellmann J, Willemsen G, Witt SH, Wu Y, Xi HS, Yang J, Zhang F, Arolt V, Baune BT, Berger K, Boomsma DI, Cichon S, Dannlowski U, de Geus ECJ, DePaulo JR, Domenici E, Domschke K, Esko T, Grabe HJ, Hamilton SP, Hayward C, Heath AC, Hinds DA, Kendler KS, Kloiber S, Lewis G, Li QS, Lucae S, Madden PFA, Magnusson PK, Martin NG, McIntosh AM, Metspalu A, Mors O, Mortensen PB, Müller-Myhsok B, Nordentoft M, Nöthen MM, O'Donovan MC, Paciga SA, Pedersen NL, Penninx BWJH, Perlis RH, Porteous DJ, Potash JB, Preisig M, Rietschel M, Schaefer C, Schulze TG, Smoller JW, Stefansson K, Tiemeier H, Uher R, Völzke H, Weissman MM, Werge T, Winslow AR, Lewis CM, Levinson DF, Breen G, Børglum AD, Sullivan PF. Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nat Genet. 2018 05; 50(5):668-681. PMID: 29700475.
    Citations: 213     Fields:    Translation:Humans
  24. Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Müller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stancáková A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu Y, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, Farook VS, Fowler SP, Freedman BI, Griswold M, Hale DE, Hicks PJ, Khor CC, Kumar S, Lehne B, Thuillier D, Lim WY, Liu J, Loh M, Musani SK, Puppala S, Scott WR, Yengo L, Tan ST, Taylor HA, Thameem F, Wilson G, Wong TY, Njølstad PR, Levy JC, Mangino M, Bonnycastle LL, Schwarzmayr T, Fadista J, Surdulescu GL, Herder C, Groves CJ, Wieland T, Bork-Jensen J, Brandslund I, Christensen C, Koistinen HA, Doney ASF, Kinnunen L, Esko T, Farmer AJ, Hakaste L, Hodgkiss D, Kravic J, Lyssenko V, Hollensted M, Jørgensen ME, Jørgensen T, Ladenvall C, Justesen JM, Käräjämäki A, Kriebel J, Rathmann W, Lannfelt L, Lauritzen T, Narisu N, Linneberg A, Melander O, Milani L, Neville M, Orho-Melander M, Qi L, Qi Q, Roden M, Rolandsson O, Swift A, Rosengren AH, Stirrups K, Wood AR, Mihailov E, Blancher C, Carneiro MO, Maguire J, Poplin R, Shakir K, Fennell T, DePristo M, de Angelis MH, Deloukas P, Gjesing AP, Jun G, Nilsson P, Murphy J, Onofrio R, Thorand B, Hansen T, Meisinger C, Hu FB, Isomaa B, Karpe F, Liang L, Peters A, Huth C, O'Rahilly SP, Palmer CNA, Pedersen O, Rauramaa R, Tuomilehto J, Salomaa V, Watanabe RM, Syvänen AC, Bergman RN, Bharadwaj D, Bottinger EP, Cho YS, Chandak GR, Chan JCN, Chia KS, Daly MJ, Ebrahim SB, Langenberg C, Elliott P, Jablonski KA, Lehman DM, Jia W, Ma RCW, Pollin TI, Sandhu M, Tandon N, Froguel P, Barroso I, Teo YY, Zeggini E, Loos RJF, Small KS, Ried JS, DeFronzo RA, Grallert H, Glaser B, Metspalu A, Wareham NJ, Walker M, Banks E, Gieger C, Ingelsson E, Im HK, Illig T, Franks PW, Buck G, Trakalo J, Buck D, Prokopenko I, Mägi R, Lind L, Farjoun Y, Owen KR, Gloyn AL, Strauch K, Tuomi T, Kooner JS, Lee JY, Park T, Donnelly P, Morris AD, Hattersley AT, Bowden DW, Collins FS, Atzmon G, Chambers JC, Spector TD, Laakso M, Strom TM, Bell GI, Blangero J, Duggirala R, Tai ES, McVean G, Hanis CL, Wilson JG, Seielstad M, Frayling TM, Meigs JB, Cox NJ, Sladek R, Lander ES, Gabriel S, Mohlke KL, Meitinger T, Groop L, Abecasis G, Scott LJ, Morris AP, Kang HM, Altshuler D, Burtt NP, Florez JC, Boehnke M, McCarthy MI. Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci Data. 2018 01 23; 5:180002. PMID: 29360107.
    Citations:    Fields:    
  25. Nguyen HT, Bryois J, Kim A, Dobbyn A, Huckins LM, Munoz-Manchado AB, Ruderfer DM, Genovese G, Fromer M, Xu X, Pinto D, Linnarsson S, Verhage M, Smit AB, Hjerling-Leffler J, Buxbaum JD, Hultman C, Sklar P, Purcell SM, Lage K, He X, Sullivan PF, Stahl EA. Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders. Genome Med. 2017 Dec 20; 9(1):114. PMID: 29262854.
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  28. Fernández E, Collins MO, Frank RAW, Zhu F, Kopanitsa MV, Nithianantharajah J, Lemprière SA, Fricker D, Elsegood KA, McLaughlin CL, Croning MDR, Mclean C, Armstrong JD, Hill WD, Deary IJ, Cencelli G, Bagni C, Fromer M, Purcell SM, Pocklington AJ, Choudhary JS, Komiyama NH, Grant SGN. Arc Requires PSD95 for Assembly into Postsynaptic Complexes Involved with Neural Dysfunction and Intelligence. Cell Rep. 2017 Oct 17; 21(3):679-691. PMID: 29045836.
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  30. Green EK, Di Florio A, Forty L, Gordon-Smith K, Grozeva D, Fraser C, Richards AL, Moran JL, Purcell S, Sklar P, Kirov G, Owen MJ, O'Donovan MC, Craddock N, Jones L, Jones IR. Genome-wide significant locus for Research Diagnostic Criteria Schizoaffective Disorder Bipolar type. Am J Med Genet B Neuropsychiatr Genet. 2017 Dec; 174(8):767-771. PMID: 28851079.
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  40. Fromer M, Roussos P, Sieberts SK, Johnson JS, Kavanagh DH, Perumal TM, Ruderfer DM, Oh EC, Topol A, Shah HR, Klei LL, Kramer R, Pinto D, Gümüs ZH, Cicek AE, Dang KK, Browne A, Lu C, Xie L, Readhead B, Stahl EA, Xiao J, Parvizi M, Hamamsy T, Fullard JF, Wang YC, Mahajan MC, Derry JM, Dudley JT, Hemby SE, Logsdon BA, Talbot K, Raj T, Bennett DA, De Jager PL, Zhu J, Zhang B, Sullivan PF, Chess A, Purcell SM, Shinobu LA, Mangravite LM, Toyoshiba H, Gur RE, Hahn CG, Lewis DA, Haroutunian V, Peters MA, Lipska BK, Buxbaum JD, Schadt EE, Hirai K, Roeder K, Brennand KJ, Katsanis N, Domenici E, Devlin B, Sklar P. Gene expression elucidates functional impact of polygenic risk for schizophrenia. Nat Neurosci. 2016 11; 19(11):1442-1453. PMID: 27668389.
    Citations: 171     Fields:    Translation:Humans
  41. Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91. PMID: 27535533.
    Citations: 2707     Fields:    Translation:Humans
  42. Ruderfer DM, Hamamsy T, Lek M, Karczewski KJ, Kavanagh D, Samocha KE, Daly MJ, MacArthur DG, Fromer M, Purcell SM. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nat Genet. 2016 10; 48(10):1107-11. PMID: 27533299.
    Citations: 48     Fields:    Translation:Humans
  43. Kim MJ, Biag J, Fass DM, Lewis MC, Zhang Q, Fleishman M, Gangwar SP, Machius M, Fromer M, Purcell SM, McCarroll SA, Rudenko G, Premont RT, Scolnick EM, Haggarty SJ. Functional analysis of rare variants found in schizophrenia implicates a critical role for GIT1-PAK3 signaling in neuroplasticity. Mol Psychiatry. 2017 03; 22(3):417-429. PMID: 27457813.
    Citations: 8     Fields:    Translation:HumansCells
  44. Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Müller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stancáková A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu Y, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, Farook VS, Fowler SP, Freedman BI, Griswold M, Hale DE, Hicks PJ, Khor CC, Kumar S, Lehne B, Thuillier D, Lim WY, Liu J, van der Schouw YT, Loh M, Musani SK, Puppala S, Scott WR, Yengo L, Tan ST, Taylor HA, Thameem F, Wilson G, Wong TY, Njølstad PR, Levy JC, Mangino M, Bonnycastle LL, Schwarzmayr T, Fadista J, Surdulescu GL, Herder C, Groves CJ, Wieland T, Bork-Jensen J, Brandslund I, Christensen C, Koistinen HA, Doney ASF, Kinnunen L, Esko T, Farmer AJ, Hakaste L, Hodgkiss D, Kravic J, Lyssenko V, Hollensted M, Jørgensen ME, Jørgensen T, Ladenvall C, Justesen JM, Käräjämäki A, Kriebel J, Rathmann W, Lannfelt L, Lauritzen T, Narisu N, Linneberg A, Melander O, Milani L, Neville M, Orho-Melander M, Qi L, Qi Q, Roden M, Rolandsson O, Swift A, Rosengren AH, Stirrups K, Wood AR, Mihailov E, Blancher C, Carneiro MO, Maguire J, Poplin R, Shakir K, Fennell T, DePristo M, de Angelis MH, Deloukas P, Gjesing AP, Jun G, Nilsson P, Murphy J, Onofrio R, Thorand B, Hansen T, Meisinger C, Hu FB, Isomaa B, Karpe F, Liang L, Peters A, Huth C, O'Rahilly SP, Palmer CNA, Pedersen O, Rauramaa R, Tuomilehto J, Salomaa V, Watanabe RM, Syvänen AC, Bergman RN, Bharadwaj D, Bottinger EP, Cho YS, Chandak GR, Chan JCN, Chia KS, Daly MJ, Ebrahim SB, Langenberg C, Elliott P, Jablonski KA, Lehman DM, Jia W, Ma RCW, Pollin TI, Sandhu M, Tandon N, Froguel P, Barroso I, Teo YY, Zeggini E, Loos RJF, Small KS, Ried JS, DeFronzo RA, Grallert H, Glaser B, Metspalu A, Wareham NJ, Walker M, Banks E, Gieger C, Ingelsson E, Im HK, Illig T, Franks PW, Buck G, Trakalo J, Buck D, Prokopenko I, Mägi R, Lind L, Farjoun Y, Owen KR, Gloyn AL, Strauch K, Tuomi T, Kooner JS, Lee JY, Park T, Donnelly P, Morris AD, Hattersley AT, Bowden DW, Collins FS, Atzmon G, Chambers JC, Spector TD, Laakso M, Strom TM, Bell GI, Blangero J, Duggirala R, Tai ES, McVean G, Hanis CL, Wilson JG, Seielstad M, Frayling TM, Meigs JB, Cox NJ, Sladek R, Lander ES, Gabriel S, Burtt NP, Mohlke KL, Meitinger T, Groop L, Abecasis G, Florez JC, Scott LJ, Morris AP, Kang HM, Boehnke M, Altshuler D, McCarthy MI. The genetic architecture of type 2 diabetes. Nature. 2016 08 04; 536(7614):41-47. PMID: 27398621.
    Citations: 256     Fields:    Translation:Humans
  45. Goes FS, Pirooznia M, Parla JS, Kramer M, Ghiban E, Mavruk S, Chen YC, Monson ET, Willour VL, Karchin R, Flickinger M, Locke AE, Levy SE, Scott LJ, Boehnke M, Stahl E, Moran JL, Hultman CM, Landén M, Purcell SM, Sklar P, Zandi PP, McCombie WR, Potash JB. Exome Sequencing of Familial Bipolar Disorder. JAMA Psychiatry. 2016 Jun 01; 73(6):590-7. PMID: 27120077.
    Citations: 30     Fields:    Translation:Humans
  46. Dunn EC, Wiste A, Radmanesh F, Almli LM, Gogarten SM, Sofer T, Faul JD, Kardia SL, Smith JA, Weir DR, Zhao W, Soare TW, Mirza SS, Hek K, Tiemeier H, Goveas JS, Sarto GE, Snively BM, Cornelis M, Koenen KC, Kraft P, Purcell S, Ressler KJ, Rosand J, Wassertheil-Smoller S, Smoller JW. GENOME-WIDE ASSOCIATION STUDY (GWAS) AND GENOME-WIDE BY ENVIRONMENT INTERACTION STUDY (GWEIS) OF DEPRESSIVE SYMPTOMS IN AFRICAN AMERICAN AND HISPANIC/LATINA WOMEN. Depress Anxiety. 2016 Apr; 33(4):265-80. PMID: 27038408.
    Citations: 17     Fields:    Translation:Humans
  47. Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietiläinen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Körkkö J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lönnqvist J, Männikkö M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, St Clair D, Veijola J, Walters JT, Williams H, Sullivan PF, Hurles ME, O'Donovan MC, Palotie A, Owen MJ, Barrett JC. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat Neurosci. 2016 Apr; 19(4):571-7. PMID: 26974950.
    Citations: 84     Fields:    Translation:Humans
  48. Ruderfer DM, Charney AW, Readhead B, Kidd BA, Kähler AK, Kenny PJ, Keiser MJ, Moran JL, Hultman CM, Scott SA, Sullivan PF, Purcell SM, Dudley JT, Sklar P. Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach. Lancet Psychiatry. 2016 Apr; 3(4):350-7. PMID: 26915512.
    Citations: 31     Fields:    Translation:Humans
  49. Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM, Daly MJ, MacArthur DG. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20; 8(322):322ra9. PMID: 26791950.
    Citations: 74     Fields:    Translation:Humans
  50. Song J, Bergen SE, Di Florio A, Karlsson R, Charney A, Ruderfer DM, Stahl EA, Chambert KD, Moran JL, Gordon-Smith K, Forty L, Green EK, Jones I, Jones L, Scolnick EM, Sklar P, Smoller JW, Lichtenstein P, Hultman C, Craddock N, Landén M, Smoller JW, Perlis RH, Lee PH, Castro VM, Hoffnagle AG, Sklar P, Stahl EA, Purcell SM, Ruderfer DM, Charney AW, Roussos P, Michele Pato CP, Medeiros H, Sobel J, Craddock N, Jones I, Forty L, Florio AD, Green E, Jones L, Gordon-Smith K, Landen M, Hultman C, Jureus A, Bergen S, McCarroll S, Moran J, Smoller JW, Chambert K, Belliveau RA. Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder. Mol Psychiatry. 2016 09; 21(9):1290-7. PMID: 26503763.
    Citations: 10     Fields:    Translation:Humans
  51. Manoach DS, Pan JQ, Purcell SM, Stickgold R. Reduced Sleep Spindles in Schizophrenia: A Treatable Endophenotype That Links Risk Genes to Impaired Cognition? Biol Psychiatry. 2016 10 15; 80(8):599-608. PMID: 26602589.
    Citations: 39     Fields:    Translation:HumansAnimals
  52. Vilhjálmsson BJ, Yang J, Finucane HK, Gusev A, Lindström S, Ripke S, Genovese G, Loh PR, Bhatia G, Do R, Hayeck T, Won HH, Kathiresan S, Pato M, Pato C, Tamimi R, Stahl E, Zaitlen N, Pasaniuc B, Belbin G, Kenny EE, Schierup MH, De Jager P, Patsopoulos NA, McCarroll S, Daly M, Purcell S, Chasman D, Neale B, Goddard M, Visscher PM, Kraft P, Patterson N, Price AL. Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. Am J Hum Genet. 2015 Oct 01; 97(4):576-92. PMID: 26430803.
    Citations: 154     Fields:    Translation:Humans
  53. Lee SH, Byrne EM, Hultman CM, Kähler A, Vinkhuyzen AA, Ripke S, Andreassen OA, Frisell T, Gusev A, Hu X, Karlsson R, Mantzioris VX, McGrath JJ, Mehta D, Stahl EA, Zhao Q, Kendler KS, Sullivan PF, Price AL, O'Donovan M, Okada Y, Mowry BJ, Raychaudhuri S, Wray NR, Byerley W, Cahn W, Cantor RM, Cichon S, Cormican P, Curtis D, Djurovic S, Escott-Price V, Gejman PV, Georgieva L, Giegling I, Hansen TF, Ingason A, Kim Y, Konte B, Lee PH, McIntosh A, McQuillin A, Morris DW, Nöthen MM, O'Dushlaine C, Olincy A, Olsen L, Pato CN, Pato MT, Pickard BS, Posthuma D, Rasmussen HB, Rietschel M, Rujescu D, Schulze TG, Silverman JM, Thirumalai S, Werge T, Agartz I, Amin F, Azevedo MH, Bass N, Black DW, Blackwood DH, Bruggeman R, Buccola NG, Choudhury K, Cloninger RC, Corvin A, Craddock N, Daly MJ, Datta S, Donohoe GJ, Duan J, Dudbridge F, Fanous A, Freedman R, Freimer NB, Friedl M, Gill M, Gurling H, De Haan L, Hamshere ML, Hartmann AM, Holmans PA, Kahn RS, Keller MC, Kenny E, Kirov GK, Krabbendam L, Krasucki R, Lawrence J, Lencz T, Levinson DF, Lieberman JA, Lin DY, Linszen DH, Magnusson PK, Maier W, Malhotra AK, Mattheisen M, Mattingsdal M, McCarroll SA, Medeiros H, Melle I, Milanova V, Myin-Germeys I, Neale BM, Ophoff RA, Owen MJ, Pimm J, Purcell SM, Puri V, Quested DJ, Rossin L, Ruderfer D, Sanders AR, Shi J, Sklar P, St Clair D, Stroup TS, Van Os J, Visscher PM, Wiersma D, Zammit S, Bridges SL, Choi HK, Coenen MJ, de Vries N, Dieud P, Greenberg JD, Huizinga TW, Padyukov L, Siminovitch KA, Tak PP, Worthington J, De Jager PL, Denny JC, Gregersen PK, Klareskog L, Mariette X, Plenge RM, van Laar M, van Riel P. New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis. Int J Epidemiol. 2015 Oct; 44(5):1706-21. PMID: 26286434.
    Citations: 19     Fields:    Translation:Humans
  54. Finucane HK, Bulik-Sullivan B, Gusev A, Trynka G, Reshef Y, Loh PR, Anttila V, Xu H, Zang C, Farh K, Ripke S, Day FR, Purcell S, Stahl E, Lindstrom S, Perry JR, Okada Y, Raychaudhuri S, Daly MJ, Patterson N, Neale BM, Price AL. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat Genet. 2015 Nov; 47(11):1228-35. PMID: 26414678.
    Citations: 313     Fields:    Translation:HumansCells
  55. Russo M, Mahon K, Shanahan M, Ramjas E, Solon C, Purcell SM, Burdick KE. The relationship between sleep quality and neurocognition in bipolar disorder. J Affect Disord. 2015 Nov 15; 187:156-62. PMID: 26339925.
    Citations: 5     Fields:    Translation:Humans
  56. Rees E, Kirov G, Walters JT, Richards AL, Howrigan D, Kavanagh DH, Pocklington AJ, Fromer M, Ruderfer DM, Georgieva L, Carrera N, Gormley P, Palta P, Williams H, Dwyer S, Johnson JS, Roussos P, Barker DD, Banks E, Milanova V, Rose SA, Chambert K, Mahajan M, Scolnick EM, Moran JL, Tsuang MT, Glatt SJ, Chen WJ, Hwu HG, Neale BM, Palotie A, Sklar P, Purcell SM, McCarroll SA, Holmans P, Owen MJ, O'Donovan MC. Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia. Transl Psychiatry. 2015 Jul 21; 5:e607. PMID: 26196440.
    Citations: 15     Fields:    Translation:Humans
  57. Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J, Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG. Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science. 2015 May 08; 348(6235):666-9. PMID: 25954003.
    Citations: 77     Fields:    Translation:HumansCells
  58. Chang CC, Chow CC, Tellier LC, Vattikuti S, Purcell SM, Lee JJ. Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience. 2015; 4:7. PMID: 25722852.
    Citations: 1123     Fields:    
  59. Genovese G, Kähler AK, Handsaker RE, Lindberg J, Rose SA, Bakhoum SF, Chambert K, Mick E, Neale BM, Fromer M, Purcell SM, Svantesson O, Landén M, Höglund M, Lehmann S, Gabriel SB, Moran JL, Lander ES, Sullivan PF, Sklar P, Grönberg H, Hultman CM, McCarroll SA. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med. 2014 Dec 25; 371(26):2477-87. PMID: 25426838.
    Citations: 583     Fields:    Translation:HumansCells
  60. Roussos P, Mitchell AC, Voloudakis G, Fullard JF, Pothula VM, Tsang J, Stahl EA, Georgakopoulos A, Ruderfer DM, Charney A, Okada Y, Siminovitch KA, Worthington J, Padyukov L, Klareskog L, Gregersen PK, Plenge RM, Raychaudhuri S, Fromer M, Purcell SM, Brennand KJ, Robakis NK, Schadt EE, Akbarian S, Sklar P. A role for noncoding variation in schizophrenia. Cell Rep. 2014 Nov 20; 9(4):1417-29. PMID: 25453756.
    Citations: 78     Fields:    Translation:HumansCells
  61. Gusev A, Lee SH, Trynka G, Finucane H, Vilhjálmsson BJ, Xu H, Zang C, Ripke S, Bulik-Sullivan B, Stahl E, Kähler AK, Hultman CM, Purcell SM, McCarroll SA, Daly M, Pasaniuc B, Sullivan PF, Neale BM, Wray NR, Raychaudhuri S, Price AL. Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am J Hum Genet. 2014 Nov 06; 95(5):535-52. PMID: 25439723.
    Citations: 189     Fields:    Translation:Humans
  62. Ruderfer DM, Lim ET, Genovese G, Moran JL, Hultman CM, Sullivan PF, McCarroll SA, Holmans P, Sklar P, Purcell SM. No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia. Eur J Hum Genet. 2015 Apr; 23(4):555-7. PMID: 25370044.
    Citations: 15     Fields:    Translation:Humans
  63. Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, Illmann C, McGrath LM, Mayerfeld C, Arepalli S, Barlassina C, Barr CL, Bellodi L, Benarroch F, Berrió GB, Bienvenu OJ, Black DW, Bloch MH, Brentani H, Bruun RD, Budman CL, Camarena B, Campbell DD, Cappi C, Silgado JC, Cavallini MC, Chavira DA, Chouinard S, Cook EH, Cookson MR, Coric V, Cullen B, Cusi D, Delorme R, Denys D, Dion Y, Eapen V, Egberts K, Falkai P, Fernandez T, Fournier E, Garrido H, Geller D, Gilbert DL, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Hardy J, Heiman GA, Hemmings SM, Herrera LD, Hezel DM, Hoekstra PJ, Jankovic J, Kennedy JL, King RA, Konkashbaev AI, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Lupoli S, Macciardi F, Maier W, Manunta P, Marconi M, McCracken JT, Mesa Restrepo SC, Moessner R, Moorjani P, Morgan J, Muller H, Murphy DL, Naarden AL, Nurmi E, Ochoa WC, Ophoff RA, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner T, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosário MC, Rosenberg D, Ruhrmann S, Sabatti C, Salvi E, Sampaio AS, Samuels J, Sandor P, Service SK, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Turiel M, Valencia Duarte AV, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Weale M, Weiss R, Wendland JR, Westenberg HG, Shugart YY, Hounie AG, Miguel EC, Nicolini H, Wagner M, Ruiz-Linares A, Cath DC, McMahon W, Posthuma D, Oostra BA, Nestadt G, Rouleau GA, Purcell S, Jenike MA, Heutink P, Hanna GL, Conti DV, Arnold PD, Freimer NB, Stewart SE, Knowles JA, Cox NJ, Pauls DL. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. Am J Psychiatry. 2015 Jan; 172(1):82-93. PMID: 25158072.
    Citations: 25     Fields:    Translation:Humans
  64. De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014 Nov 13; 515(7526):209-15. PMID: 25363760.
    Citations: 677     Fields:    Translation:HumansCells
  65. Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, Palotie A, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Neale BM, Daly MJ. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 Sep; 46(9):944-50. PMID: 25086666.
    Citations: 291     Fields:    Translation:Humans
  66. Georgieva L, Rees E, Moran JL, Chambert KD, Milanova V, Craddock N, Purcell S, Sklar P, McCarroll S, Holmans P, O'Donovan MC, Owen MJ, Kirov G. De novo CNVs in bipolar affective disorder and schizophrenia. Hum Mol Genet. 2014 Dec 15; 23(24):6677-83. PMID: 25055870.
    Citations: 24     Fields:    Translation:HumansCells
  67. Guffanti G, Ashley-Koch AE, Roberts AL, Garrett ME, Solovieff N, Ratanatharathorn A, De Vivo I, Dennis M, Ranu H, Smoller JW, Liu Y, Purcell SM, Beckham J, Hauser MA, Koenen KC. No association between RORA polymorphisms and PTSD in two independent samples. Mol Psychiatry. 2014 Oct; 19(10):1056-7. PMID: 25048002.
    Citations: 6     Fields:    Translation:Humans
  68. Sham PC, Purcell SM. Statistical power and significance testing in large-scale genetic studies. Nat Rev Genet. 2014 May; 15(5):335-46. PMID: 24739678.
    Citations: 157     Fields:    Translation:Humans
  69. Szatkiewicz JP, O'Dushlaine C, Chen G, Chambert K, Moran JL, Neale BM, Fromer M, Ruderfer D, Akterin S, Bergen SE, Kähler A, Magnusson PK, Kim Y, Crowley JJ, Rees E, Kirov G, O'Donovan MC, Owen MJ, Walters J, Scolnick E, Sklar P, Purcell S, Hultman CM, McCarroll SA, Sullivan PF. Copy number variation in schizophrenia in Sweden. Mol Psychiatry. 2014 Jul; 19(7):762-73. PMID: 24776740.
    Citations: 96     Fields:    Translation:Humans
  70. Fromer M, Purcell SM. Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data. Curr Protoc Hum Genet. 2014 Apr 24; 81:7.23.1-21. PMID: 24763994.
    Citations: 43     Fields:    
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