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2016
Analysis of protein-coding genetic variation in 60,706 humans.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, et al. Nature, 2016/08/17, Volume 536, Issue 7616, p.285-91, (2016) Read More / View Supplemental Materials
Abstract
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.Ruderfer, DM, Hamamsy T., Lek M., Karczewski KJ, Kavanagh D., Samocha KE, Exome Aggregation Consortium, Daly M. J., Macarthur DG, Fromer M., and Purcell SM Nature genetics, 2016/08/17, (2016) Read More / View Supplemental Materials
Abstract
Functional analysis of rare variants found in schizophrenia implicates a critical role for GIT1-PAK3 signaling in neuroplasticity.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, and Haggarty SJ Molecular psychiatry, 2016/07/26, (2016) Read More / View Supplemental Materials
Abstract
Exome Sequencing of Familial Bipolar Disorder.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, et al. JAMA psychiatry, 2016/06/01, Volume 73, Issue 6, p.590-7, (2016) Read More / View Supplemental Materials
Abstract
Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach.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, and Sklar P. The lancet. Psychiatry, 2016/04/01, Volume 3, Issue 4, p.350-7, (2016) Read More / View Supplemental Materials
Abstract
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.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 M. J., Danesh J., et al. Nature neuroscience, 2016/04/01, Volume 19, Issue 4, p.571-7, (2016) Read More / View Supplemental Materials
Abstract
Quantifying prion disease penetrance using large population control cohorts.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., et al. Science translational medicine, 2016/01/20, Volume 8, Issue 322, p.322ra9, (2016) Read More / View Supplemental Materials
Abstract
2015
Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder.Song, J., Bergen SE, Di Florio A., Karlsson R., Charney A., Ruderfer DM, Stahl EA, Members of the International Cohort Collection for Bipolar Disorder(ICCBD), 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., et al. Molecular psychiatry, 2015/10/27, (2015) Read More / View Supplemental Materials
Abstract
Reduced Sleep Spindles in Schizophrenia: A Treatable Endophenotype That Links Risk Genes to Impaired Cognition?Manoach, DS, Pan JQ, Purcell SM, and Stickgold R. Biological psychiatry, 2015/10/14, (2015) Read More / View Supplemental Materials
Abstract
New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis.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., et al. International journal of epidemiology, 2015/08/18, (2015) Read More / View Supplemental Materials
Abstract
Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.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., et al. Translational psychiatry, 2015/07/21, Volume 5, p.e607, (2015) Read More / View Supplemental Materials
Abstract
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.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, et al. Science (New York, N.Y.), 2015/05/08, Volume 348, Issue 6235, p.666-9, (2015) Read More / View Supplemental Materials
Abstract
Second-generation PLINK: rising to the challenge of larger and richer datasets.Chang, CC, Chow CC, Tellier LC, Vattikuti S., Purcell SM, and Lee JJ GigaScience, 2015/01/01, Volume 4, p.7, (2015) Read More / View Supplemental Materials
Abstract
2014
Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence.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 E. S., Sullivan PF, Sklar P., et al. The New England journal of medicine, 2014/11/26, (2014) Read More / View Supplemental Materials
Abstract
A role for noncoding variation in schizophrenia.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, et al. Cell reports, 2014/11/20, Volume 9, Issue 4, p.1417-29, (2014) Read More / View Supplemental Materials
Abstract
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.Gusev, A., Lee SH, Trynka G., Finucane H., Vilhjálmsson BJ, Xu H., Zang C., Ripke S., Bulik-Sullivan B., Stahl E., Schizophrenia Working Group of the Psychiatric Genomics Consortium, SWE-SCZ Consortium, Kähler AK, Hultman CM, Purcell SM, McCarroll SA, Daly M., Pasaniuc B., Sullivan PF, Neale BM, et al. American journal of human genetics, 2014/11/06, Volume 95, Issue 5, p.535-52, (2014) Read More / View Supplemental Materials
Abstract
No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia.Ruderfer, DM, Lim ET, Genovese G., Moran JL, Hultman CM, Sullivan PF, McCarroll SA, Holmans P., Sklar P., and Purcell SM European journal of human genetics : EJHG, 2014/11/05, (2014) Read More / View Supplemental Materials
Abstract
A framework for the interpretation of de novo mutation in human disease.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 Jr, Gibbs RA, et al. Nature genetics, 2014/08/03, (2014) Read More / View Supplemental Materials
Abstract
No association between RORA polymorphisms and PTSD in two independent samples.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, and Veterans Affairs Mid-Atlantic Mental Illness Research, Education Clinical Center Workgroup, Beckham J., Hauser MA, and Koenen KC Molecular psychiatry, 2014/07/22, (2014) Read More / View Supplemental Materials
Statistical power and significance testing in large-scale genetic studies.Sham, PC, and Purcell SM Nature reviews. Genetics, 2014/05/01, Volume 15, Issue 5, p.335-46, (2014) Read More / View Supplemental Materials
Abstract
Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data.Fromer, M., and Purcell SM Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.], 2014/04/24, Volume 81, p.7.23.1-7.23.21, (2014) Read More / View Supplemental Materials
Abstract
Genetic modifiers and subtypes in schizophrenia: investigations of age at onset, severity, sex and family history.Bergen, SE, O'Dushlaine CT, Lee PH, Fanous AH, Ruderfer DM, Ripke S., International Schizophrenia Consortium, Swedish Schizophrenia Consortium, Sullivan PF, Smoller JW, Purcell SM, and Corvin A. Schizophrenia research, 2014/04/01, Volume 154, Issue 1-3, p.48-53, (2014) Read More / View Supplemental Materials
Abstract
Genetic Association Analysis of 300 Genes Identifies a Risk Haplotype in SLC18A2 for Posttraumatic Stress Disorder in two Independent Samples.Solovieff, N., Roberts AL, Ratanatharathorn A., Haloosim M., De Vivo I., King AP, Liberzon I., Aiello A., Uddin M., Wildman DE, Galea S., Smoller JW, Purcell SM, and Koenen KC Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology, 2014/02/14, (2014) Read More / View Supplemental Materials
Abstract
De novo mutations in schizophrenia implicate synaptic networks.Fromer, M., Pocklington AJ, Kavanagh DH, Williams HJ, Dwyer S., Gormley P., Georgieva L., Rees E., Palta P., Ruderfer DM, Carrera N., Humphreys I., Johnson JS, Roussos P., Barker DD, Banks E., Milanova V., Grant SG, Hannon E., Rose SA, et al. Nature, 2014/02/13, Volume 506, Issue 7487, p.179-84, (2014) Read More / View Supplemental Materials
Abstract
A polygenic burden of rare disruptive mutations in schizophrenia.Purcell, SM, Moran JL, Fromer M., Ruderfer D., Solovieff N., Roussos P., O'Dushlaine C., Chambert K., Bergen SE, Kähler A., Duncan L., Stahl E., Genovese G., Fernández E., Collins MO, Komiyama NH, Choudhary JS, Magnusson PK, Banks E., Shakir K., et al. Nature, 2014/02/13, Volume 506, Issue 7487, p.185-90, (2014) Read More / View Supplemental Materials
Abstract
Comorbidity of Severe Psychotic Disorders With Measures of Substance Use.Hartz, SM, Pato CN, Medeiros H., Cavazos-Rehg P., Sobell JL, Knowles JA, Bierut LJ, Pato MT, for the Genomic Psychiatry Cohort Consortium, Abbott C., Azevedo MH, Belliveau R., Bevilacqua E., Bromet EJ, Buckley PF, Dewan MJ, Escamilla MA, Fanous AH, Fochtmann LJ, Kinkead R., et al. JAMA psychiatry, 2014/01/01, (2014) Read More / View Supplemental Materials
Abstract
2013
Pleiotropy in complex traits: challenges and strategies.Solovieff, N., Cotsapas C., Lee PH, Purcell SM, and Smoller JW Nature reviews. Genetics, 2013/07/01, Volume 14, Issue 7, p.483-95, (2013) Read More / View Supplemental Materials
Abstract
Antidepressant response and polygenes.Purcell, SM Biological psychiatry, 2013/04/01, Volume 73, Issue 7, p.600-1, (2013) Read More / View Supplemental Materials
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.Lim, ET, Raychaudhuri S., Sanders SJ, Stevens C., Sabo A., Macarthur DG, Neale BM, Kirby A., Ruderfer DM, Fromer M., Lek M., Liu L., Flannick J., Ripke S., Nagaswamy U., Muzny D., Reid JG, Hawes A., Newsham I., Wu Y., et al. Neuron, 2013/01/23, Volume 77, Issue 2, p.235-42, (2013) Read More / View Supplemental Materials
Abstract
Mosaic copy number variation in schizophrenia.Ruderfer, DM, Chambert K., Moran J., Talkowski M., Chen ES, Gigek C., Gusella JF, Blackwood DH, Corvin A., Gurling HM, Hultman CM, Kirov G., Magnusson P., O'Donovan MC, Owen MJ, Pato C., St Clair D., Sullivan PF, Purcell SM, Sklar P., et al. European journal of human genetics : EJHG, 2013/01/16, (2013) Read More / View Supplemental Materials
Abstract
2012
Multi-locus genome-wide association analysis supports the role of glutamatergic synaptic transmission in the etiology of major depressive disorder.Lee, PH, Perlis RH, Jung JY, Byrne EM, Rueckert E., Siburian R., Haddad S., Mayerfeld CE, Heath AC, Pergadia ML, Madden PA, Boomsma DI, Penninx BW, Sklar P., Martin NG, Wray NR, Purcell SM, and Smoller JW Translational psychiatry, 2012/11/13, Volume 2, p.e184, (2012) Read More / View Supplemental Materials
Abstract
Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth.Fromer, M., Moran JL, Chambert K., Banks E., Bergen SE, Ruderfer DM, Handsaker RE, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G., Sullivan PF, Hultman CM, Sklar P., and Purcell SM American journal of human genetics, 2012/10/05, Volume 91, Issue 4, p.597-607, (2012) Read More / View Supplemental Materials
Abstract
Cis-acting regulation of brain-specific ANK3 gene expression by a genetic variant associated with bipolar disorder.Rueckert, EH, Barker D., Ruderfer D., Bergen SE, O'Dushlaine C., Luce CJ, Sheridan SD, Theriault KM, Chambert K., Moran J., Purcell SM, Madison JM, Haggarty SJ, and Sklar P. Molecular psychiatry, 2012/07/31, (2012) Read More / View Supplemental Materials
Abstract
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.Bergen, SE, O'Dushlaine CT, Ripke S., Lee PH, Ruderfer DM, Akterin S., Moran JL, Chambert KD, Handsaker RE, Backlund L., Osby U., McCarroll S., Landen M., Scolnick EM, Magnusson PK, Lichtenstein P., Hultman CM, Purcell SM, Sklar P., and Sullivan PF Molecular psychiatry, 2012/06/12, (2012) Read More / View Supplemental Materials
Abstract
Exome sequencing and the genetic basis of complex traits.Kiezun, A., Garimella K., Do R., Stitziel NO, Neale BM, McLaren PJ, Gupta N., Sklar P., Sullivan PF, Moran JL, Hultman CM, Lichtenstein P., Magnusson P., Lehner T., Shugart YY, Price AL, de Bakker PI, Purcell SM, and Sunyaev SR Nature genetics, 2012/05/29, Volume 44, Issue 6, p.623-30, (2012) Read More / View Supplemental Materials
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies.Pasaniuc, B., Rohland N., McLaren PJ, Garimella K., Zaitlen N., Li H., Gupta N., Neale BM, Daly M. J., Sklar P., Sullivan PF, Bergen S., Moran JL, Hultman CM, Lichtenstein P., Magnusson P., Purcell SM, Haas DW, Liang L., Sunyaev S., et al. Nature genetics, 2012/05/20, Volume 44, Issue 6, p.631-5, (2012) Read More / View Supplemental Materials
Abstract
INRICH: Interval-based Enrichment Analysis for Genome Wide Association Studies.Lee, PH, O'Dushlaine C., Thomas B., and Purcell SM Bioinformatics (Oxford, England), 2012/04/17, (2012) Read More / View Supplemental Materials
Abstract
2009
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.Raychaudhuri, S., Plenge RM, Rossin EJ, Ng AC, International Schizophrenia Consortium, Purcell SM, Sklar P., Scolnick EM, Xavier RJ, Altshuler D., and Daly M. J. PLoS genetics, 2009/06/01, Volume 5, Issue 6, p.e1000534, (2009) Read More / View Supplemental Materials
Abstract
  • Showing 1-38 of 38 Results