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2014
Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.Ek, WE, Reznichenko A., Ripke S., Niesler B., Zucchelli M., Rivera NV, Schmidt PT, Pedersen NL, Magnusson P., Talley NJ, Holliday EG, Houghton L., Gazouli M., Karamanolis G., Rappold G., Burwinkel B., Surowy H., Rafter J., Assadi G., Li L., et al. Gut, 2014/09/23, (2014) Read More / View Supplemental Materials
Abstract
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.Goldstein, JI, Fredrik Jarskog L., Hilliard C., Alfirevic A., Duncan L., Fourches D., Huang H., Lek M., Neale BM, Ripke S., Shianna K., Szatkiewicz JP, Tropsha A., van den Oord EJ, Cascorbi I., Dettling M., Gazit E., Goff DC, Holden AL, Kelly DL, et al. Nature communications, 2014/09/04, Volume 5, p.4757, (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
The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort.Robinson, EB, Kirby A., Ruparel K., Yang J., McGrath L., Anttila V., Neale BM, Merikangas K., Lehner T., Sleiman PM, Daly M. J., Gur R., Gur R., and Hakonarson H. Molecular psychiatry, 2014/07/15, (2014) Read More / View Supplemental Materials
Abstract
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.Lim, ET, Würtz P., Havulinna AS, Palta P., Tukiainen T., Rehnström K., Esko T., Mägi R., Inouye M., Lappalainen T., Chan Y., Salem RM, Lek M., Flannick J., Sim X., Manning A., Ladenvall C., Bumpstead S., Hämäläinen E., Aalto K., et al. PLoS genetics, 2014/07/01, Volume 10, Issue 7, p.e1004494, (2014) Read More / View Supplemental Materials
Abstract
Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics.Lundby, A., Rossin EJ, Steffensen AB, Acha MR, Newton-Cheh C., Pfeufer A., Lynch SN, The QT Interval International GWAS Consortium(QT-IGC), Olesen SP, Brunak S., Ellinor PT, Jukema JW, Trompet S., Ford I., Macfarlane PW, Krijthe BP, Hofman A., Uitterlinden AG, Stricker BH, Nathoe HM, et al. Nature methods, 2014/06/22, (2014) Read More / View Supplemental Materials
Abstract
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.Arking, DE, Pulit SL, Crotti L., van der Harst P., Munroe PB, Koopmann TT, Sotoodehnia N., Rossin EJ, Morley M., Wang X., Johnson AD, Lundby A., Gudbjartsson DF, Noseworthy PA, Eijgelsheim M., Bradford Y., Tarasov KV, Dörr M., Müller-Nurasyid M., Lahtinen AM, et al. Nature genetics, 2014/06/22, (2014) Read More / View Supplemental Materials
Abstract
Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense.Lassen, KG, Kuballa P., Conway KL, Patel KK, Becker CE, Peloquin JM, Villablanca EJ, Norman JM, Liu TC, Heath RJ, Becker ML, Fagbami L., Horn H., Mercer J., Yilmaz OH, Jaffe JD, Shamji AF, Bhan AK, Carr SA, Daly M. J., et al. Proceedings of the National Academy of Sciences of the United States of America, 2014/05/12, (2014) Read More / View Supplemental Materials
Abstract
Guidelines for investigating causality of sequence variants in human disease.Macarthur, DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J., Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly M. J., Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, et al. Nature, 2014/04/24, Volume 508, Issue 7497, p.469-76, (2014) Read More / View Supplemental Materials
Abstract
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.Chan, Y., Lim ET, Sandholm N., Wang SR, McKnight AJ, Ripke S., DIAGRAM Consortium, GENIE Consortium, GIANT Consortium, IIBDGC Consortium, PGC Consortium, Daly M. J., Neale BM, Salem RM, and Hirschhorn JN American journal of human genetics, 2014/03/06, Volume 94, Issue 3, p.437-52, (2014) Read More / View Supplemental Materials
Abstract
Searching for missing heritability: Designing rare variant association studies.Zuk, O., Schaffner SF, Samocha K., Do R., Hechter E., Kathiresan S., Daly M. J., Neale BM, Sunyaev SR, and Lander E. S. Proceedings of the National Academy of Sciences of the United States of America, 2014/01/28, Volume 111, Issue 4, p.E455-64, (2014) Read More / View Supplemental Materials
Abstract
SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease.Fowler, SA, Ananthakrishnan AN, Gardet A., Stevens CR, Korzenik JR, Sands BE, Daly M. J., Xavier RJ, and Yajnik V. Journal of Crohn's & colitis, 2014/01/22, (2014) Read More / View Supplemental Materials
Abstract
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.Gupta, AR, Pirruccello M., Cheng F., Kang HJ, Fernandez TV, Baskin JM, Choi M., Liu L., Ercan-Sencicek AG, Murdoch JD, Klei L., Neale BM, Franjic D., Daly M. J., Lifton RP, De Camilli P., Zhao H., Sestan N., and State MW Molecular autism, 2014/01/01, Volume 5, p.31, (2014) Read More / View Supplemental Materials
Abstract
2013
Common variants associated with plasma triglycerides and risk for coronary artery disease.Do, R., Willer CJ, Schmidt EM, Sengupta S., Gao C., Peloso GM, Gustafsson S., Kanoni S., Ganna A., Chen J., Buchkovich ML, Mora S., Beckmann JS, Bragg-Gresham JL, Chang HY, Demirkan A., Den Hertog HM, Donnelly LA, Ehret GB, Esko T., et al. Nature genetics, 2013/11/01, Volume 45, Issue 11, p.1345-52, (2013) Read More / View Supplemental Materials
Abstract
Response to 'Predicting the diagnosis of autism spectrum disorder using gene pathway analysis'Robinson, EB, Howrigan D., Yang J., Ripke S., Anttila V., Duncan LE, Jostins L., Barrett JC, Medland SE, Macarthur DG, Breen G., O'Donovan MC, Wray NR, Devlin B., Daly M. J., Visscher PM, Sullivan PF, and Neale BM Molecular psychiatry, 2013/10/22, (2013) Read More / View Supplemental Materials
Mutations in eIF4ENIF1 Are Associated With Primary Ovarian Insufficiency.Kasippillai, T., Macarthur DG, Kirby A., Thomas B., Lambalk CB, Daly M. J., and Welt CK The Journal of clinical endocrinology and metabolism, 2013/07/31, (2013) Read More / View Supplemental Materials
Abstract
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.Kirby, A., Gnirke A., Jaffe DB, Barešová V., Pochet N., Blumenstiel B., Ye C., Aird D., Stevens C., Robinson JT, Cabili MN, Gat-Viks I., Kelliher E., Daza R., DeFelice M., Hůlková H., Sovová J., Vylet'al P., Antignac C., Guttman M., et al. Nature genetics, 2013/03/01, Volume 45, Issue 3, p.299-303, (2013) Read More / View Supplemental Materials
Abstract
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
2012
zCall: A Rare Variant Caller for Array-based Genotyping.Goldstein, JI, Crenshaw A., Carey J., Grant G., Maguire J., Fromer M., O'Dushlaine C., Moran JL, Chambert K., Stevens C., Swedish Schizophrenia Consortium, ARRA Autism Sequencing Consortium, Sklar P., Hultman CM, Purcell S., McCarroll S., Sullivan PF, Daly M. J., and Neale BM Bioinformatics (Oxford, England), 2012/07/27, (2012) Read More / View Supplemental Materials
Abstract
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
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.Voight, BF, Peloso GM, Orho-Melander M., Frikke-Schmidt R., Barbalic M., Jensen MK, Hindy G., Hólm H., Ding EL, Johnson T., Schunkert H., Samani NJ, Clarke R., Hopewell JC, Thompson JF, Li M., Thorleifsson G., Newton-Cheh C., Musunuru K., Pirruccello JP, et al. Lancet, 2012/05/17, (2012) Read More / View Supplemental Materials
Abstract
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries.Talkowski, ME, Rosenfeld JA, Blumenthal I., Pillalamarri V., Chiang C., Heilbut A., Ernst C., Hanscom C., Rossin E., Lindgren AM, Pereira S., Ruderfer D., Kirby A., Ripke S., Harris DJ, Lee JH, Ha K., Kim HG, Solomon BD, Gropman AL, et al. Cell, 2012/04/27, Volume 149, Issue 3, p.525-37, (2012) Read More / View Supplemental Materials
Abstract
Patterns and rates of exonic de novo mutations in autism spectrum disorders.Neale, BM, Kou Y., Liu L., Ma'ayan A., Samocha KE, Sabo A., Lin CF, Stevens C., Wang LS, Makarov V., Polak P., Yoon S., Maguire J., Crawford EL, Campbell NG, Geller ET, Valladares O., Schafer C., Liu H., Zhao T., et al. Nature, 2012/04/04, (2012) Read More / View Supplemental Materials
Abstract
2011
A genome-wide scan for common variants affecting the rate of age-related cognitive decline.De Jager, PL, Shulman JM, Chibnik LB, Keenan BT, Raj T., Wilson RS, Yu L., Leurgans SE, Tran D., Aubin C., Anderson CD, Biffi A., Corneveaux JJ, Huentelman MJ, Alzheimer's Disease Neuroimaging Initiative, Rosand J., Daly M. J., Myers AJ, Reiman EM, Bennett DA, et al. Neurobiology of aging, 2011/11/03, (2011) Read More / View Supplemental Materials
Abstract
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.Raychaudhuri, S., Iartchouk O., Chin K., Tan PL, Tai AK, Ripke S., Gowrisankar S., Vemuri S., Montgomery K., Yu Y., Reynolds R., Zack DJ, Campochiaro B., Campochiaro P., Katsanis N., Daly M. J., and Seddon JM Nature genetics, 2011/10/23, Volume 43, Issue 12, p.1232-6, (2011) Read More / View Supplemental Materials
Abstract
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.Rivas, MA, Beaudoin M., Gardet A., Stevens C., Sharma Y., Zhang CK, Boucher G., Ripke S., Ellinghaus D., Burtt N., Fennell T., Kirby A., Latiano A., Goyette P., Green T., Halfvarson J., Haritunians T., Korn JM, Kuruvilla F., Lagacé C., et al. Nature genetics, 2011/10/09, Volume 43, Issue 11, p.1066-73, (2011) Read More / View Supplemental Materials
Abstract
Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction.Shea, J., Agarwala V., Philippakis AA, Maguire J., Banks E., DePristo M., Thomson B., Guiducci C., Onofrio RC, Kathiresan S., Gabriel S., Burtt NP, Daly M. J., Groop L., Altshuler D., and Myocardial Infarction Genetics Consortium Nature genetics, 2011/07/24, Volume 43, Issue 8, p.801-5, (2011) Read More / View Supplemental Materials
Abstract
A framework for variation discovery and genotyping using next-generation DNA sequencing data.DePristo, MA, Banks E., Poplin R., Garimella KV, Maguire JR, Hartl C., Philippakis AA, del Angel G., Rivas MA, Hanna M., McKenna A., Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K., Gabriel SB, Altshuler D., and Daly M. J. Nature genetics, 2011/05/01, Volume 43, Issue 5, p.491-8, (2011) Read More / View Supplemental Materials
Abstract
Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology.Rossin, EJ, Lage K., Raychaudhuri S., Xavier RJ, Tatar D., Benita Y., International Inflammatory Bowel Disease Genetics Constortium, Cotsapas C., and Daly M. J. PLoS genetics, 2011/01/13, Volume 7, Issue 1, p.e1001273, (2011) Read More / View Supplemental Materials
Abstract
2010
LRRK2 is involved in the IFN-gamma response and host response to pathogens.Gardet, A., Benita Y., Li C., Sands BE, Ballester I., Stevens C., Korzenik JR, Rioux JD, Daly M. J., Xavier RJ, and Podolsky DK Journal of immunology (Baltimore, Md. : 1950), 2010/11/01, Volume 185, Issue 9, p.5577-85, (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
Abstract
Integrating common and rare genetic variation in diverse human populations.International HapMap 3, Consortium, Altshuler DM, Gibbs RA, Peltonen L., Altshuler DM, Gibbs RA, Peltonen L., Dermitzakis E., Schaffner SF, Yu F., Peltonen L., Dermitzakis E., Bonnen PE, Altshuler DM, Gibbs RA, de Bakker PI, Deloukas P., Gabriel SB, Gwilliam R., Hunt S., et al. Nature, 2010/09/02, Volume 467, Issue 7311, p.52-8, (2010) Read More / View Supplemental Materials
Abstract
Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.Segrè, AV, DIAGRAM Consortium, investigators MAGIC, Groop L., Mootha VK, Daly M. J., and Altshuler D. PLoS genetics, 2010/08/12, Volume 6, Issue 8, (2010) Read More / View Supplemental Materials
Abstract
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
Abstract
Genetic resistance to diet-induced obesity in chromosome substitution strains of mice.Burrage, LC, Baskin-Hill AE, Sinasac DS, Singer JB, Croniger CM, Kirby A., Kulbokas E. J., Daly M. J., Lander E. S., Broman KW, and Nadeau JH Mammalian genome : official journal of the International Mammalian Genome Society, 2010/04/01, Volume 21, Issue 3-4, p.115-29, (2010) Read More / View Supplemental Materials
Abstract
The landscape of somatic copy-number alteration across human cancers.Beroukhim, R., Mermel CH, Porter D., Wei G., Raychaudhuri S., Donovan J., Barretina J., Boehm JS, Dobson J., Urashima M., Mc Henry KT, Pinchback RM, Ligon AH, Cho YJ, Haery L., Greulich H., Reich M., Winckler W., Lawrence MS, Weir BA, et al. Nature, 2010/02/18, Volume 463, Issue 7283, p.899-905, (2010) 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
Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.Smith, JG, Lowe JK, Kovvali S., Maller JB, Salit J., Daly M. J., Stoffel M., Altshuler DM, Friedman JM, Breslow JL, and Newton-Cheh C. Heart rhythm : the official journal of the Heart Rhythm Society, 2009/05/01, Volume 6, Issue 5, p.634-41, (2009) Read More / View Supplemental Materials
Abstract
2008
Genetic architecture of complex traits: large phenotypic effects and pervasive epistasis.Shao, H., Burrage LC, Sinasac DS, Hill AE, Ernest SR, O'Brien W., Courtland HW, Jepsen KJ, Kirby A., Kulbokas E. J., Daly M. J., Broman KW, Lander E. S., and Nadeau JH Proceedings of the National Academy of Sciences of the United States of America, 2008/12/16, Volume 105, Issue 50, p.19910-4, (2008) Read More / View Supplemental Materials
Abstract
Genetic mapping in human disease.Altshuler, D., Daly M. J., and Lander E. S. Science (New York, N.Y.), 2008/11/07, Volume 322, Issue 5903, p.881-8, (2008) Read More / View Supplemental Materials
Abstract
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.Choy, E., Yelensky R., Bonakdar S., Plenge RM, Saxena R., De Jager PL, Shaw SY, Wolfish CS, Slavik JM, Cotsapas C., Rivas M., Dermitzakis ET, Cahir-McFarland E., Kieff E., Hafler D., Daly M. J., and Altshuler D. PLoS genetics, 2008/11/01, Volume 4, Issue 11, p.e1000287, (2008) Read More / View Supplemental Materials
Abstract
Common variants at CD40 and other loci confer risk of rheumatoid arthritis.Raychaudhuri, S., Remmers EF, Lee AT, Hackett R., Guiducci C., Burtt NP, Gianniny L., Korman BD, Padyukov L., Kurreeman FA, Chang M., Catanese JJ, Ding B., Wong S., van der Helm-van Mil AH, Neale BM, Coblyn J., Cui J., Tak PP, Wolbink GJ, et al. Nature genetics, 2008/10/01, Volume 40, Issue 10, p.1216-23, (2008) Read More / View Supplemental Materials
Abstract
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
Abstract
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
Abstract
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.Graham, RR, Cotsapas C., Davies L., Hackett R., Lessard CJ, Leon JM, Burtt NP, Guiducci C., Parkin M., Gates C., Plenge RM, Behrens TW, Wither JE, Rioux JD, Fortin PR, Graham DC, Wong AK, Vyse TJ, Daly M. J., Altshuler D., et al. Nature genetics, 2008/09/01, Volume 40, Issue 9, p.1059-61, (2008) Read More / View Supplemental Materials
Abstract
2007
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.Plenge, RM, Cotsapas C., Davies L., Price AL, de Bakker PI, Maller J., Pe'er I., Burtt NP, Blumenstiel B., DeFelice M., Parkin M., Barry R., Winslow W., Healy C., Graham RR, Neale BM, Izmailova E., Roubenoff R., Parker AN, Glass R., et al. Nature genetics, 2007/12/01, Volume 39, Issue 12, p.1477-82, (2007) Read More / View Supplemental Materials
Abstract
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
Abstract
Risk alleles for multiple sclerosis identified by a genomewide study.International Multiple Sclerosis Genetics, Consortium, Hafler DA, Compston A., Sawcer S., Lander E. S., Daly M. J., De Jager PL, de Bakker PI, Gabriel SB, Mirel DB, Ivinson AJ, Pericak-Vance MA, Gregory SG, Rioux JD, McCauley JL, Haines JL, Barcellos LF, Cree B., Oksenberg JR, and Hauser SL The New England journal of medicine, 2007/08/30, Volume 357, Issue 9, p.851-62, (2007) Read More / View Supplemental Materials
Abstract
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.and of Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, Novartis Institutes BioMedical Rese, Saxena R., Voight BF, Lyssenko V., Burtt NP, de Bakker PI, Chen H., Roix JJ, Kathiresan S., Hirschhorn JN, Daly M. J., Hughes TE, Groop L., Altshuler D., Almgren P., Florez JC, Meyer J., Ardlie K., Bengtsson Boström K., Isomaa B., et al. Science (New York, N.Y.), 2007/06/01, Volume 316, Issue 5829, p.1331-6, (2007) Read More / View Supplemental Materials
Abstract
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.Graham, RR, Kyogoku C., Sigurdsson S., Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth T., Ortmann WA, Hom G., Bauer JW, Gillett C., Burtt N., Cunninghame Graham DS, Onofrio R., Petri M., Gunnarsson I., Svenungsson E., Rönnblom L., Nordmark G., et al. Proceedings of the National Academy of Sciences of the United States of America, 2007/04/17, Volume 104, Issue 16, p.6758-63, (2007) Read More / View Supplemental Materials
Abstract
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
Abstract
A second major histocompatibility complex susceptibility locus for multiple sclerosis.Yeo, TW, De Jager PL, Gregory SG, Barcellos LF, Walton A., Goris A., Fenoglio C., Ban M., Taylor CJ, Goodman RS, Walsh E., Wolfish CS, Horton R., Traherne J., Beck S., Trowsdale J., Caillier SJ, Ivinson AJ, Green T., Pobywajlo S., et al. Annals of neurology, 2007/03/01, Volume 61, Issue 3, p.228-36, (2007) Read More / View Supplemental Materials
Abstract
2006
Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia.Mutsuddi, M., Morris DW, Waggoner SG, Daly M. J., Scolnick EM, and Sklar P. American journal of human genetics, 2006/11/01, Volume 79, Issue 5, p.903-9, (2006) Read More / View Supplemental Materials
Abstract
Transferability of tag SNPs in genetic association studies in multiple populations.de Bakker, PI, Burtt NP, Graham RR, Guiducci C., Yelensky R., Drake JA, Bersaglieri T., Penney KL, Butler J., Young S., Onofrio RC, Lyon HN, Stram DO, Haiman CA, Freedman ML, Zhu X., Cooper R., Groop L., Kolonel LN, Henderson BE, et al. Nature genetics, 2006/11/01, Volume 38, Issue 11, p.1298-303, (2006) Read More / View Supplemental Materials
Abstract
Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals.Saxena, R., Gianniny L., Burtt NP, Lyssenko V., Giuducci C., Sjögren M., Florez JC, Almgren P., Isomaa B., Orho-Melander M., Lindblad U., Daly M. J., Tuomi T., Hirschhorn JN, Ardlie KG, Groop LC, and Altshuler D. Diabetes, 2006/10/01, Volume 55, Issue 10, p.2890-5, (2006) Read More / View Supplemental Materials
Abstract
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.de Bakker, PI, McVean G., Sabeti PC, Miretti MM, Green T., Marchini J., Ke X., Monsuur AJ, Whittaker P., Delgado M., Morrison J., Richardson A., Walsh EC, Gao X., Galver L., Hart J., Hafler DA, Pericak-Vance M., Todd JA, Daly M. J., et al. Nature genetics, 2006/10/01, Volume 38, Issue 10, p.1166-72, (2006) Read More / View Supplemental Materials
Abstract
Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19.Tello-Ruiz, MK, Curley C., DelMonte T., Giallourakis C., Kirby A., Miller K., Wild G., Cohen A., Langelier D., Latiano A., Wedemeyer N., Lander E., Schreiber S., Annese V., Daly M. J., and Rioux JD European journal of human genetics : EJHG, 2006/06/01, Volume 14, Issue 6, p.780-90, (2006) Read More / View Supplemental Materials
Abstract
2005
Genome sequence, comparative analysis and haplotype structure of the domestic dog.Lindblad-Toh, K., Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, Kamal M., Clamp M., Chang JL, Kulbokas EJ 3rd, Zody MC, Mauceli E., Xie X., Breen M., Wayne RK, Ostrander EA, Ponting CP, Galibert F., Smith DR, de Jong PJ, Kirkness E., et al. Nature, 2005/12/08, Volume 438, Issue 7069, p.803-19, (2005) Read More / View Supplemental Materials
Abstract
Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia.Petryshen, TL, Middleton FA, Tahl AR, Rockwell GN, Purcell S., Aldinger KA, Kirby A., Morley CP, McGann L., Gentile KL, Waggoner SG, Medeiros HM, Carvalho C., Macedo A., Albus M., Maier W., Trixler M., Eichhammer P., Schwab SG, Wildenauer DB, et al. Molecular psychiatry, 2005/12/01, Volume 10, Issue 12, p.1074-88, 1057, (2005) Read More / View Supplemental Materials
Abstract
Two quantitative trait loci for prepulse inhibition of startle identified on mouse chromosome 16 using chromosome substitution strains.Petryshen, TL, Kirby A., Hammer RP Jr, Purcell S., O'Leary SB, Singer JB, Hill AE, Nadeau JH, Daly M. J., and Sklar P. Genetics, 2005/12/01, Volume 171, Issue 4, p.1895-904, (2005) Read More / View Supplemental Materials
Abstract
Calibrating a coalescent simulation of human genome sequence variation.Schaffner, SF, Foo C., Gabriel S., Reich D., Daly M. J., and Altshuler D. Genome research, 2005/11/01, Volume 15, Issue 11, p.1576-83, (2005) Read More / View Supplemental Materials
Abstract
A high-density screen for linkage in multiple sclerosis.Sawcer, S., Ban M., Maranian M., Yeo TW, Compston A., Kirby A., Daly M. J., De Jager PL, Walsh E., Lander E. S., Rioux JD, Hafler DA, Ivinson A., Rimmler J., Gregory SG, Schmidt S., Pericak-Vance MA, Akesson E., Hillert J., Datta P., et al. American journal of human genetics, 2005/09/01, Volume 77, Issue 3, p.454-67, (2005) Read More / View Supplemental Materials
Abstract
Association of DLG5 R30Q variant with inflammatory bowel disease.Daly, M. J., Pearce AV, Farwell L., Fisher SA, Latiano A., Prescott NJ, Forbes A., Mansfield J., Sanderson J., Langelier D., Cohen A., Bitton A., Wild G., Lewis CM, Annese V., Mathew CG, and Rioux JD European journal of human genetics : EJHG, 2005/07/01, Volume 13, Issue 7, p.835-9, (2005) Read More / View Supplemental Materials
Abstract
Support for involvement of neuregulin 1 in schizophrenia pathophysiology.Petryshen, TL, Middleton FA, Kirby A., Aldinger KA, Purcell S., Tahl AR, Morley CP, McGann L., Gentile KL, Rockwell GN, Medeiros HM, Carvalho C., Macedo A., Dourado A., Valente J., Ferreira CP, Patterson NJ, Azevedo MH, Daly M. J., Pato CN, et al. Molecular psychiatry, 2005/04/01, Volume 10, Issue 4, p.366-74, 328, (2005) Read More / View Supplemental Materials
Abstract
Genome-wide association studies for common diseases and complex traits.Hirschhorn, JN, and Daly M. J. Nature reviews. Genetics, 2005/02/01, Volume 6, Issue 2, p.95-108, (2005) Read More / View Supplemental Materials
Abstract
2004
Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci.Rioux, JD, Karinen H., Kocher K., McMahon SG, Kärkkäinen P., Janatuinen E., Heikkinen M., Julkunen R., Pihlajamäki J., Naukkarinen A., Kosma VM, Daly M. J., Lander E. S., and Laakso M. American journal of medical genetics. Part A, 2004/11/01, Volume 130A, Issue 4, p.345-50, (2004) Read More / View Supplemental Materials
Abstract
Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping.Sawcer, SJ, Maranian M., Singlehurst S., Yeo T., Compston A., Daly M. J., De Jager PL, Gabriel S., Hafler DA, Ivinson AJ, Lander E. S., Rioux JD, Walsh E., Gregory SG, Schmidt S., Pericak-Vance MA, Barcellos L., Hauser SL, Oksenberg JR, Kenealy SJ, et al. Human molecular genetics, 2004/09/01, Volume 13, Issue 17, p.1943-9, (2004) Read More / View Supplemental Materials
Abstract
Methods for high-density admixture mapping of disease genes.Patterson, N., Hattangadi N., Lane B., Lohmueller KE, Hafler DA, Oksenberg JR, Hauser SL, Smith MW, O'Brien SJ, Altshuler D., Daly M. J., and Reich D. American journal of human genetics, 2004/05/01, Volume 74, Issue 5, p.979-1000, (2004) Read More / View Supplemental Materials
Abstract
2000
Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arraysLindblad-Toh, K., Tanenbaum D. M., Daly M. J., Winchester E., Lui W. O., Villapakkam A., Stanton S. E., Larsson C., Hudson T. J., Johnson B. E., Lander E. S., and Meyerson M. Nature Biotechnology, 2000/09//, Volume 18, Issue 9, p.1001 - 5, (2000) Read More / View Supplemental Materials
Abstract
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