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2014
Copy number variation in schizophrenia in Sweden.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., et al. Molecular psychiatry, 2014/07/01, Volume 19, Issue 7, p.762-73, (2014) Read More / View Supplemental Materials
Abstract
Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.Kiskinis, E., Sandoe J., Williams LA, Boulting GL, Moccia R., Wainger BJ, Han S., Peng T., Thams S., Mikkilineni S., Mellin C., Merkle FT, Davis-Dusenbery BN, Ziller M., Oakley D., Ichida J., Di Costanzo S., Atwater N., Maeder ML, Goodwin MJ, et al. Cell stem cell, 2014/06/05, Volume 14, Issue 6, p.781-95, (2014) Read More / View Supplemental Materials
Abstract
Genome-scale neurogenetics: methodology and meaning.McCarroll, SA, Feng G., and Hyman SE Nature neuroscience, 2014/06/01, Volume 17, Issue 6, p.756-63, (2014) Read More / View Supplemental Materials
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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
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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
Analysis of copy number variations at 15 schizophrenia-associated loci.Rees, E., Walters JT, Georgieva L., Isles AR, Chambert KD, Richards AL, Mahoney-Davies G., Legge SE, Moran JL, McCarroll SA, O'Donovan MC, Owen MJ, and Kirov G. The British journal of psychiatry : the journal of mental science, 2014/02/01, Volume 204, Issue 2, p.108-14, (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
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Evidence that duplications of 22q11.2 protect against schizophrenia.Rees, E., Kirov G., Sanders A., Walters JT, Chambert KD, Shi J., Szatkiewicz J., O'Dushlaine C., Richards AL, Green EK, Jones I., Davies G., Legge SE, Moran JL, Pato C., Pato M., Genovese G., Levinson D., Duan J., Moy W., et al. Molecular psychiatry, 2014/01/01, Volume 19, Issue 1, p.37-40, (2014) Read More / View Supplemental Materials
Abstract
2013
Progress in the genetics of polygenic brain disorders: significant new challenges for neurobiology.McCarroll, SA, and Hyman SE Neuron, 2013/10/30, Volume 80, Issue 3, p.578-87, (2013) Read More / View Supplemental Materials
Abstract
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.Ripke, S., O'Dushlaine C., Chambert K., Moran JL, Kähler AK, Akterin S., Bergen SE, Collins AL, Crowley JJ, Fromer M., Kim Y., Lee SH, Magnusson PK, Sanchez N., Stahl EA, Williams S., Wray NR, Xia K., Bettella F., Borglum AD, et al. Nature genetics, 2013/10/01, Volume 45, Issue 10, p.1150-9, (2013) Read More / View Supplemental Materials
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Mapping the Human Reference Genome's Missing Sequence by Three-Way Admixture in Latino Genomes.Genovese, G., Handsaker RE, Li H., Kenny EE, and McCarroll SA American journal of human genetics, 2013/09/05, Volume 93, Issue 3, p.411-21, (2013) Read More / View Supplemental Materials
Abstract
Mutational heterogeneity in cancer and the search for new cancer-associated genes.Lawrence, MS, Stojanov P., Polak P., Kryukov GV, Cibulskis K., Sivachenko A., Carter SL, Stewart C., Mermel CH, Roberts SA, Kiezun A., Hammerman PS, McKenna A., Drier Y., Zou L., Ramos AH, Pugh TJ, Stransky N., Helman E., Kim J., et al. Nature, 2013/07/11, Volume 499, Issue 7457, p.214-8, (2013) Read More / View Supplemental Materials
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Using population admixture to help complete maps of the human genome.Genovese, G., Handsaker RE, Li H., Altemose N., Lindgren AM, Chambert K., Pasaniuc B., Price AL, Reich D., Morton CC, Pollak MR, Wilson JG, and McCarroll SA Nature genetics, 2013/02/24, (2013) Read More / View Supplemental Materials
Abstract
2012
Differential relationship of DNA replication timing to different forms of human mutation and variation.Koren, A., Polak P., Nemesh J., Michaelson JJ, Sebat J., Sunyaev SR, and McCarroll SA American journal of human genetics, 2012/12/07, Volume 91, Issue 6, p.1033-40, (2012) Read More / View Supplemental Materials
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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
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Structural haplotypes and recent evolution of the human 17q21.31 region.Boettger, LM, Handsaker RE, Zody MC, and McCarroll SA Nature genetics, 2012/07/01, (2012) Read More / View Supplemental Materials
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Exploring the variation within.Macosko, EZ, and McCarroll SA Nature genetics, 2012/05/29, Volume 44, Issue 6, p.614-6, (2012) Read More / View Supplemental Materials
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2011
Mapping copy number variation by population-scale genome sequencing.Mills, RE, Walter K., Stewart C., Handsaker RE, Chen K., Alkan C., Abyzov A., Yoon SC, Ye K., Cheetham RK, Chinwalla A., Conrad DF, Fu Y., Grubert F., Hajirasouliha I., Hormozdiari F., Iakoucheva LM, Iqbal Z., Kang S., Kidd JM, et al. Nature, 2011/02/03, Volume 470, Issue 7332, p.59-65, (2011) Read More / View Supplemental Materials
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2010
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.Speliotes, EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G., Jackson AU, Allen HL, Lindgren CM, Luan J., Mägi R., Randall JC, Vedantam S., Winkler TW, Qi L., Workalemahu T., Heid IM, Steinthorsdottir V., Stringham HM, Weedon MN, Wheeler E., et al. Nature genetics, 2010/11/01, Volume 42, Issue 11, p.937-48, (2010) Read More / View Supplemental Materials
Abstract
Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function.Raychaudhuri, S., Korn JM, McCarroll SA, International Schizophrenia Consortium, Altshuler D., Sklar P., Purcell S., and Daly M. J. PLoS genetics, 2010/09/09, Volume 6, Issue 9, (2010) Read More / View Supplemental Materials
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Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.Voight, BF, Scott LJ, Steinthorsdottir V., Morris AP, Dina C., Welch RP, Zeggini E., Huth C., Aulchenko YS, Thorleifsson G., McCulloch LJ, Ferreira T., Grallert H., Amin N., Wu G., Willer CJ, Raychaudhuri S., McCarroll SA, Langenberg C., Hofmann OM, et al. Nature genetics, 2010/07/01, Volume 42, Issue 7, p.579-89, (2010) Read More / View Supplemental Materials
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2008
Extending genome-wide association studies to copy-number variation.McCarroll, SA Human molecular genetics, 2008/10/15, Volume 17, Issue R2, p.R135-42, (2008) Read More / View Supplemental Materials
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Integrated detection and population-genetic analysis of SNPs and copy number variation.McCarroll, SA, Kuruvilla FG, Korn JM, Cawley S., Nemesh J., Wysoker A., Shapero MH, de Bakker PI, Maller JB, Kirby A., Elliott AL, Parkin M., Hubbell E., Webster T., Mei R., Veitch J., Collins PJ, Handsaker R., Lincoln S., Nizzari M., et al. Nature genetics, 2008/10/01, Volume 40, Issue 10, p.1166-74, (2008) Read More / View Supplemental Materials
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Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.Korn, JM, Kuruvilla FG, McCarroll SA, Wysoker A., Nemesh J., Cawley S., Hubbell E., Veitch J., Collins PJ, Darvishi K., Lee C., Nizzari MM, Gabriel SB, Purcell S., Daly M. J., and Altshuler D. Nature genetics, 2008/10/01, Volume 40, Issue 10, p.1253-60, (2008) Read More / View Supplemental Materials
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Mapping and sequencing of structural variation from eight human genomes.Kidd, JM, Cooper GM, Donahue WF, Hayden HS, Sampas N., Graves T., Hansen N., Teague B., Alkan C., Antonacci F., Haugen E., Zerr T., Yamada NA, Tsang P., Newman TL, Tüzün E., Cheng Z., Ebling HM, Tusneem N., David R., et al. Nature, 2008/05/01, Volume 453, Issue 7191, p.56-64, (2008) Read More / View Supplemental Materials
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2007
Genome-wide detection and characterization of positive selection in human populations.Sabeti, PC, Varilly P., Fry B., Lohmueller J., Hostetter E., Cotsapas C., Xie X., Byrne EH, McCarroll SA, Gaudet R., Schaffner SF, Lander E. S., International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, et al. Nature, 2007/10/18, Volume 449, Issue 7164, p.913-8, (2007) Read More / View Supplemental Materials
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Copy-number variation and association studies of human disease.McCarroll, SA, and Altshuler DM Nature genetics, 2007/07/01, Volume 39, Issue 7 Suppl, p.S37-42, (2007) Read More / View Supplemental Materials
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Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.Winckler, W., Weedon MN, Graham RR, McCarroll SA, Purcell S., Almgren P., Tuomi T., Gaudet D., Boström KB, Walker M., Hitman G., Hattersley AT, McCarthy MI, Ardlie KG, Hirschhorn JN, Daly M. J., Frayling TM, Groop L., and Altshuler D. Diabetes, 2007/03/01, Volume 56, Issue 3, p.685-93, (2007) Read More / View Supplemental Materials
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2006
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.Zody, MC, Garber M., Adams DJ, Sharpe T., Harrow J., Lupski JR, Nicholson C., Searle SM, Wilming L., Young SK, Abouelleil A., Allen NR, Bi W., Bloom T., Borowsky ML, Bugalter BE, Butler J., Chang JL, Chen CK, Cook A., et al. Nature, 2006/04/20, Volume 440, Issue 7087, p.1045-9, (2006) Read More / View Supplemental Materials
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  • Showing 1-29 of 29 Results