Publication Index

2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000

2013

Fu W, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Rieder MJ, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ and Akey JM (2013). Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 493:216-20 [Abstract]

Huyghe JR, Jackson AU, Fogarty MP, Buchkovich ML, Stancakova A, Stringham HM, Sim X, Yang L, Fuchsberger C, Cederberg H, Chines PS, Teslovich TM, Romm JM, Ling H, McMullen I, Ingersoll R, Pugh EW, Doheny KF, Neale BM, Daly MJ, Kuusisto J, Scott LJ, Kang HM, Collins FS, Abecasis GR, Watanabe RM, Boehnke M, Laakso M and Mohlke KL (2013). Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat Genet 45:197-201 [Abstract]

Liang L, Morar N, Dixon AL, Lathrop GM, Abecasis GR, Moffatt MF and Cookson WO (2013). A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines. Genome Res 23:716-26 [Abstract]

Kang J, Huang KC, Xu Z, Wang Y, Abecasis GR and Li Y (2013). AbCD: arbitrary coverage design for sequencing-based genetic studies. Bioinformatics 29:799-801 [Abstract]

Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP Jr, Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, (... 126 other authors ...), Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Leveillard T, Thorsteinsdottir U, Haines JL, Farrer LA, Heid IM and Abecasis GR (2013). Seven new loci associated with age-related macular degeneration. Nat Genet 45:433-9 [Abstract]

Hu Y, Li L, Ehm MG, Bing N, Song K, Nelson MR, Talmud PJ, Hingorani AD, Kumari M, Kivimaki M, Xu CF, Waterworth DM, Whittaker JC, Abecasis GR, Spino C and Kang HM (2013). The benefits of using genetic information to design prevention trials. Am J Hum Genet 92:547-57 [Abstract]

Chen W, Li B, Zeng Z, Sanna S, Sidore C, Busonero F, Kang HM, Li Y and Abecasis GR (2013). Genotype calling and haplotyping in parent-offspring trios. Genome Res 23:142-51 [Abstract]

2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000

2012

Tsoi LC, Spain SL, Knight J, Ellinghaus E, Stuart PE, Capon F, Ding J, Li Y, Tejasvi T, Gudjonsson JE, Kang HM, Allen MH, McManus R, Novelli G, Samuelsson L, Schalkwijk J, (... 168 other authors ...), Liddle J, Perez ML, Potter SC, Ravindrarajah R, Ricketts M, Waller M, Weston P, Widaa S, Whittaker P, Nair RP, Franke A, Barker JN, Abecasis GR, Elder JT and Trembath RC (2012). Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet 44:1341-8 [Abstract] [PDF]

The 1000 Genomes Project (2012). An integrated map of genetic variation from 1,092 human genomes. Nature 491:56-65 [Abstract] [PDF] [Web]

Jun G, Flickinger M, Hetrick KN, Romm JM, Doheny KF, Abecasis GR, Boehnke M and Kang HM (2012). Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data. Am J Hum Genet 91:839-48 [Abstract] [PDF] [Web]

Li B, Chen W, Zhan X, Busonero F, Sanna S, Sidore C, Cucca F, Kang HM and Abecasis GR (2012). A likelihood-based framework for variant calling and de novo mutation detection in families. PLoS Genet 8:e1002944 [Abstract] [PDF] [Web]

Do R, Kathiresan S and Abecasis GR (2012). Exome sequencing and complex disease: practical aspects of rare variant association studies. Hum Mol Genet 21:R1-9 [Abstract] [PDF]

Meirelles OD, Ding J, Tanaka T, Sanna S, Yang HT, Dudekula DB, Cucca F, Ferrucci L, Abecasis G and Schlessinger D (2012). SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits. Eur J Hum Genet : [Abstract]

Morris AP, Voight BF, Teslovich TM, Ferreira T, Segre AV, Steinthorsdottir V, Strawbridge RJ, Khan H, Grallert H, Mahajan A, Prokopenko I, Kang HM, Dina C, Esko T, Fraser RM, Kanoni S, (... 174 other authors ...), Boerwinkle E, Melander O, Kathiresan S, Nilsson PM, Deloukas P, Thorsteinsdottir U, Groop LC, Stefansson K, Hu F, Pankow JS, Dupuis J, Meigs JB, Altshuler D, Boehnke M and McCarthy MI (2012). Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet 44:981-90 [Abstract] [PDF]

Voight BF, Kang HM, Ding J, Palmer CD, Sidore C, Chines PS, Burtt NP, Fuchsberger C, Li Y, Erdmann J, Frayling TM, Heid IM, Jackson AU, Johnson T, Kilpelainen TO, Lindgren CM, Morris AP, Prokopenko I, Randall JC, Saxena R, Soranzo N, Speliotes EK, Teslovich TM, Wheeler E, Maguire J, Parkin M, Potter S, Rayner NW, Robertson N, Stirrups K, Winckler W, Sanna S, Mulas A, Nagaraja R, Cucca F, Barroso I, Deloukas P, Loos RJ, Kathiresan S, Munroe PB, Newton-Cheh C, Pfeufer A, Samani NJ, Schunkert H, Hirschhorn JN, Altshuler D, McCarthy MI, Abecasis GR and Boehnke M (2012). The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet 8:e1002793 [Abstract] [PDF]

Howie B, Fuchsberger C, Stephens M, Marchini J and Abecasis GR (2012). Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet 44:955-9 [Abstract] [PDF]

Voight BF, Peloso GM, Orho-Melander M, Frikke-Schmidt R, Barbalic M, Jensen MK, Hindy G, Holm H, Ding EL, Johnson T, Schunkert H, Samani NJ, Clarke R, Hopewell JC, Thompson JF, Li M, (... 96 other authors ...), Cupples LA, Reilly MP, Melander O, Mannucci PM, Ardissino D, Siscovick D, Elosua R, Stefansson K, O'Donnell CJ, Salomaa V, Rader DJ, Peltonen L, Schwartz SM, Altshuler D and Kathiresan S (2012). Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet 380:572-80 [Abstract] [PDF]

Nelson MR, Wegmann D, Ehm MG, Kessner D, St Jean P, Verzilli C, Shen J, Tang Z, Bacanu SA, Fraser D, Warren L, Aponte J, Zawistowski M, Liu X, Zhang H, Zhang Y, Li J, Li Y, Li L, Woollard P, Topp S, Hall MD, Nangle K, Wang J, Abecasis G, Cardon LR, Zollner S, Whittaker JC, Chissoe SL, Novembre J and Mooser V (2012). An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science 337:100-4 [Abstract] [PDF]

Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altshuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ and Akey JM (2012). Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337:64-9 [Abstract] [PDF]

Manning AK, Hivert MF, Scott RA, Grimsby JL, Bouatia-Naji N, Chen H, Rybin D, Liu CT, Bielak LF, Prokopenko I, Amin N, Barnes D, Cadby G, Hottenga JJ, Ingelsson E, Jackson AU, (... 186 other authors ...), Wilson JF, Witteman JC, Wright AF, Yaghootkar H, Zelenika D, Zemunik T, Zgaga L, Wareham NJ, McCarthy MI, Barroso I, Watanabe RM, Florez JC, Dupuis J, Meigs JB and Langenberg C (2012). A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet 44:659-69 [Abstract] [PDF]

Ellinghaus E, Stuart PE, Ellinghaus D, Nair RP, Debrus S, Raelson JV, Belouchi M, Tejasvi T, Li Y, Tsoi LC, Onken AT, Esko T, Metspalu A, Rahman P, Gladman DD, Bowcock AM, Helms C, Krueger GG, Koks S, Kingo K, Gieger C, Wichmann HE, Mrowietz U, Weidinger S, Schreiber S, Abecasis GR, Elder JT, Weichenthal M and Franke A (2012). Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL. J Invest Dermatol 132:1133-40 [Abstract] [PDF]

Sofat R, Casas JP, Webster AR, Bird AC, Mann SS, Yates JR, Moore AT, Sepp T, Cipriani V, Bunce C, Khan JC, Shahid H, Swaroop A, Abecasis G, Branham KE, Zareparsi S, Bergen AA, Klaver CC, Baas DC, Zhang K, Chen Y, Gibbs D, Weber BH, Keilhauer CN, Fritsche LG, Lotery A, Cree AJ, Griffiths HL, Bhattacharya SS, Chen LL, Jenkins SA, Peto T, Lathrop M, Leveillard T, Gorin MB, Weeks DE, Ortube MC, Ferrell RE, Jakobsdottir J, Conley YP, Rahu M, Seland JH, Soubrane G, Topouzis F, Vioque J, Tomazzoli L, Young I, Whittaker J, Chakravarthy U, de Jong PT, Smeeth L, Fletcher A and Hingorani AD (2012). Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. Int J Epidemiol 41:250-62 [Abstract] [PDF]

Naitza S, Porcu E, Steri M, Taub DD, Mulas A, Xiao X, Strait J, Dei M, Lai S, Busonero F, Maschio A, Usala G, Zoledziewska M, Sidore C, Zara I, Pitzalis M, Loi A, Virdis F, Piras R, Deidda F, Whalen MB, Crisponi L, Concas A, Podda C, Uzzau S, Scheet P, Longo DL, Lakatta E, Abecasis GR, Cao A, Schlessinger D, Uda M, Sanna S and Cucca F (2012). A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. PLoS Genet 8:e1002480 [Abstract] [PDF]

Ellinghaus D, Ellinghaus E, Nair RP, Stuart PE, Esko T, Metspalu A, Debrus S, Raelson JV, Tejasvi T, Belouchi M, West SL, Barker JN, Koks S, Kingo K, Balschun T, Palmieri O, Annese V, Gieger C, Wichmann HE, Kabesch M, Trembath RC, Mathew CG, Abecasis GR, Weidinger S, Nikolaus S, Schreiber S, Elder JT, Weichenthal M, Nothnagel M and Franke A (2012). Combined Analysis of Genome-wide Association Studies for Crohn Disease and Psoriasis Identifies Seven Shared Susceptibility Loci. Am J Hum Genet 90:636-47 [Abstract] [PDF]

2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000

2011

The International Consortium for Blood Pressure Genome-Wide Association Studies (2011). Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 478:103-9 [Abstract] [PDF]

Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, McVean G and Durbin R (2011). The variant call format and VCFtools. Bioinformatics 27:2156-8 [Abstract] [PDF]

Cotsapas C, Voight BF, Rossin E, Lage K, Neale BM, Wallace C, Abecasis GR, Barrett JC, Behrens T, Cho J, De Jager PL, Elder JT, Graham RR, Gregersen P, Klareskog L, Siminovitch KA, van Heel DA, Wijmenga C, Worthington J, Todd JA, Hafler DA, Rich SS and Daly MJ (2011). Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet 7:e1002254 [Abstract] [PDF]

Sanna S, Li B, Mulas A, Sidore C, Kang HM, Jackson AU, Piras MG, Usala G, Maninchedda G, Sassu A, Serra F, Palmas MA, Wood WH 3rd, Njolstad I, Laakso M, Hveem K, Tuomilehto J, Lakka TA, Rauramaa R, Boehnke M, Cucca F, Uda M, Schlessinger D, Nagaraja R and Abecasis GR (2011). Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. PLoS Genet 7:e1002198 [Abstract] [PDF]

Li Y, Sidore C, Kang HM, Boehnke M and Abecasis G (2011). Low coverage sequencing: Implications for the design of complex trait association studies. Genome Res 21:940-51 [Abstract] [PDF]

Zheng J, Li Y, Abecasis GR and Scheet P (2011). A comparison of approaches to account for uncertainty in analysis of imputed genotypes. Genet Epidemiol 35:102-10 [Abstract] [PDF]

Johnson T, Gaunt TR, Newhouse SJ, Padmanabhan S, Tomaszewski M, Kumari M, Morris RW, Tzoulaki I, O'Brien ET, Poulter NR, Sever P, Shields DC, Thom S, Wannamethee SG, Whincup PH, Brown MJ, (... 74 other authors ...), Laan M, Kuh D, Humphries SE, Nyberg F, Cusi D, Roberts R, Newton-Cheh C, Franke L, Stanton AV, Dominiczak AF, Farrall M, Hingorani AD, Samani NJ, Caulfield MJ and Munroe PB (2011). Blood Pressure Loci Identified with a Gene-Centric Array. Am J Hum Genet 89:688-700 [Abstract]

McKay GJ, Patterson CC, Chakravarthy U, Dasari S, Klaver CC, Vingerling JR, Ho L, de Jong PT, Fletcher AE, Young IS, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J, Hingorani AD, Sofat R, Dean M, Sawitzke J, Seddon JM, Peter I, Webster AR, Moore AT, Yates JR, Cipriani V, Fritsche LG, Weber BH, Keilhauer CN, Lotery AJ, Ennis S, Klein ML, Francis PJ, Stambolian D, Orlin A, Gorin MB, Weeks DE, Kuo CL, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Wright AF, Hayward C, Baird PN, Guymer RH, Attia J, Thakkinstian A and Silvestri G (2011). Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. Hum Mutat 32:1407-16 [Abstract]

Mitchell GF, Verwoert GC, Tarasov KV, Isaacs A, Smith AV, Yasmin, Rietzschel ER, Tanaka T, Liu Y, Parsa A, Najjar SS, O'Shaughnessy KM, Sigurdsson S, De Buyzere ML, Larson MG, Sie MP, (... 45 other authors ...), Oostra BA, Ding J, Gibson Q, Uitterlinden AG, Abecasis GR, Cockcroft JR, Gudnason V, De Backer GG, Ferrucci L, Harris TB, Shuldiner AR, van Duijn CM, Levy D, Lakatta EG and Witteman JC (2011). Common Genetic Variation in the 3-BCL11B Gene Desert Is Associated with Carotid-Femoral Pulse Wave Velocity and Excess Cardiovascular Disease Risk: The AortaGen Consortium. Circ Cardiovasc Genet : [Abstract]

Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, Van der Harst P, Holm H, Sanna S, Kavousi M, Baumeister SE, Coin LJ, Deng G, Gieger C, Heard-Costa NL, Hottenga JJ, Kuhnel B, (... 106 other authors ...), Waterworth DM, Watkins H, Whitfield JB, Witteman JC, Wolffenbuttel BH, Fox CS, Ala-Korpela M, Stefansson K, Vollenweider P, Volzke H, Schadt EE, Scott J, Jarvelin MR, Elliott P and Kooner JS (2011). Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet 43:1131-8 [Abstract]

Wain LV, Verwoert GC, O'Reilly PF, Shi G, Johnson T, Johnson AD, Bochud M, Rice KM, Henneman P, Smith AV, Ehret GB, Amin N, Larson MG, Mooser V, Hadley D, Dorr M, (... 194 other authors ...), Boehnke M, Ridker PM, Jarvelin MR, Chakravarti A, Abecasis GR, Gudnason V, Newton-Cheh C, Levy D, Munroe PB, Psaty BM, Caulfield MJ, Rao DC, Tobin MD, Elliott P and van Duijn CM (2011). Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet 43:1005-11 [Abstract]

Bis JC, Kavousi M, Franceschini N, Isaacs A, Abecasis GR, Schminke U, Post WS, Smith AV, Cupples LA, Markus HS, Schmidt R, Huffman JE, Lehtimaki T, Baumert J, Munzel T, Heckbert SR, (... 63 other authors ...), Klopp N, Schmidt H, Wilson JF, Viikari J, Koenig W, Blankenberg S, Newman AB, Witteman J, Heiss G, Duijn C, Scuteri A, Homuth G, Mitchell BD, Gudnason V and O'Donnell CJ (2011). Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. Nat Genet 43:940-7 [Abstract]

Kooner JS, Saleheen D, Sim X, Sehmi J, Zhang W, Frossard P, Been LF, Chia KS, Dimas AS, Hassanali N, Jafar T, Jowett JB, Li X, Radha V, Rees SD, Takeuchi F, (... 37 other authors ...), Kato N, Katulanda P, Kelly MA, Liang J, Mohan V, Sanghera DK, Scott J, Seielstad M, Zimmet PZ, Elliott P, Teo YY, McCarthy MI, Danesh J, Tai ES and Chambers JC (2011). Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. Nat Genet 43:984-9 [Abstract]

McKay GJ, Silvestri G, Chakravarthy U, Dasari S, Fritsche LG, Weber BH, Keilhauer CN, Klein ML, Francis PJ, Klaver CC, Vingerling JR, Ho L, De Jong PT, Dean M, Sawitzke J, Baird PN, Guymer RH, Stambolian D, Orlin A, Seddon JM, Peter I, Wright AF, Hayward C, Lotery AJ, Ennis S, Gorin MB, Weeks DE, Kuo CL, Hingorani AD, Sofat R, Cipriani V, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Yates JR, Webster AR, Moore AT, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J, Young IS, Fletcher AE and Patterson CC (2011). Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. Am J Epidemiol 173:1357-64 [Abstract]

Sivakumaran TA, Igo RP Jr, Kidd JM, Itsara A, Kopplin LJ, Chen W, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, Chew EY, Ramprasad VL, Tay WT, Mitchell P, Seielstad M, Stambolian DE, Edwards AO, Lee KE, Leontiev DV, Jun G, Wang Y, Tian L, Qiu F, Henning AK, LaFramboise T, Sen P, Aarthi M, George R, Raman R, Das MK, Vijaya L, Kumaramanickavel G, Wong TY, Swaroop A, Abecasis GR, Klein R, Klein BE, Nickerson DA, Eichler EE and Iyengar SK (2011). A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. PLoS One 6:e25598 [Abstract]

Coronary Artery Disease Genetics Consortium (2011). A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. Nat Genet 43:339-44 [Abstract] [PDF]

He CC, Weeks DE, Buyske S, Abecasis GR, Stewart WC and Matise TC (2011). Enhanced genetic maps from family-based disease studies: population-specific comparisons. BMC Med Genet 12:15 [Abstract]

2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000

2010

Ding J, Gudjonsson JE, Liang L, Stuart PE, Li Y, Chen W, Weichenthal M, Ellinghaus E, Franke A, Cookson W, Nair RP, Elder JT and Abecasis GR (2010). Gene expression in skin and lymphoblastoid cells: Refined statistical method reveals extensive overlap in cis-eQTL signals. Am J Hum Genet 87:779-89 [Abstract] [PDF]

Li Y, Willer CJ, Ding J, Scheet P and Abecasis GR (2010). MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 34:816-834 [Abstract] [PDF]

The 1000 Genomes Project Consortium (2010). A map of human genome variation from population-scale sequencing. Nature 467:1061-73 [Abstract] [PDF]

Stuart PE, Nair RP, Ellinghaus E, Ding J, Tejasvi T, Gudjonsson JE, Li Y, Weidinger S, Eberlein B, Gieger C, Wichmann HE, Kunz M, Ike R, Krueger GG, Bowcock AM, Mrowietz U, Lim HW, Voorhees JJ, Abecasis GR, Weichenthal M, Franke A, Rahman P, Gladman DD and Elder JT (2010). Genome-wide association analysis identifies three psoriasis susceptibility loci. Nat Genet 42:1000-4 [Abstract] [PDF]

Ellinghaus E, Ellinghaus D, Stuart PE, Nair RP, Debrus S, Raelson JV, Belouchi M, Fournier H, Reinhard C, Ding J, Li Y, Tejasvi T, Gudjonsson J, Stoll SW, Voorhees JJ, Lambert S, Weidinger S, Eberlein B, Kunz M, Rahman P, Gladman DD, Gieger C, Wichmann HE, Karlsen TH, Mayr G, Albrecht M, Kabelitz D, Mrowietz U, Abecasis GR, Elder JT, Schreiber S, Weichenthal M and Franke A (2010). Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. Nat Genet 42:991-5 [Abstract] [PDF]

Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Allen HL, Lindgren CM, Luan J, Magi R, Randall JC, Vedantam S, Winkler TW, Qi L, Workalemahu T, Heid IM, (... 345 other authors ...), Schlessinger D, Strachan DP, van Duijn CM, Wichmann HE, Frayling TM, Thorsteinsdottir U, Abecasis GR, Barroso I, Boehnke M, Stefansson K, North KE, McCarthy MI, Hirschhorn JN, Ingelsson E and Loos RJ (2010). Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet 42:937-48 [Abstract] [PDF]

Heid IM, Jackson AU, Randall JC, Winkler TW, Qi L, Steinthorsdottir V, Thorleifsson G, Zillikens MC, Speliotes EK, Magi R, Workalemahu T, White CC, Bouatia-Naji N, Harris TB, Berndt SI, Ingelsson E, (... 270 other authors ...), Schlessinger D, Strachan DP, Hirschhorn JN, Assimes TL, Wichmann HE, Thorsteinsdottir U, van Duijn CM, Stefansson K, Cupples LA, Loos RJ, Barroso I, McCarthy MI, Fox CS, Mohlke KL and Lindgren CM (2010). Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet 42:949-60 [Abstract] [PDF]

Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, Ferreira T, Wood AR, Weyant RJ, Segre AV, Speliotes EK, Wheeler E, (... 263 other authors ...), Schadt EE, Thorsteinsdottir U, Peltonen L, Uitterlinden AG, Visscher PM, Chatterjee N, Loos RJ, Boehnke M, McCarthy MI, Ingelsson E, Lindgren CM, Abecasis GR, Stefansson K, Frayling TM and Hirschhorn JN (2010). Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467:832-8 [Abstract] [PDF]

Waterworth DM, Ricketts SL, Song K, Chen L, Zhao JH, Ripatti S, Aulchenko YS, Zhang W, Yuan X, Lim N, Luan J, Ashford S, Wheeler E, Young EH, Hadley D, Thompson JR, (... 36 other authors ...), Hakonarson HH, Rader DJ, Reilly MP, Witteman JC, Hall AS, Samani NJ, Strachan DP, Barter P, van Duijn CM, Kooner JS, Peltonen L, Wareham NJ, McPherson R, Mooser V and Sandhu MS (2010). Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Arterioscler Thromb Vasc Biol 30:2264-76 [Abstract] [PDF]

Baratz KH, Tosakulwong N, Ryu E, Brown WL, Branham K, Chen W, Tran KD, Schmid-Kubista KE, Heckenlively JR, Swaroop A, Abecasis G, Bailey KR and Edwards AO (2010). E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med 363:1016-24 [Abstract] [PDF]

Terracciano A, Tanaka T, Sutin AR, Sanna S, Deiana B, Lai S, Uda M, Schlessinger D, Abecasis GR, Ferrucci L and Costa PT Jr (2010). Genome-wide association scan of trait depression. Biol Psychiatry 68:811-7 [Abstract] [PDF]

Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts SL, (... 179 other authors ...), Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ, Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn CM, Peltonen L, Abecasis GR, Boehnke M and Kathiresan S (2010). Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466:707-13 [Abstract] [PDF]

Kanda A, Stambolian D, Chen W, Curcio CA, Abecasis GR and Swaroop A (2010). Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina. Mol Vis 16:1317-23 [Abstract] [PDF]

Willer CJ, Li Y and Abecasis GR (2010). METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26:2190-1 [Abstract] [PDF]

Pruim RJ, Welch RP, Sanna S, Teslovich TM, Chines PS, Gliedt TP, Boehnke M, Abecasis GR and Willer CJ (2010). LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 26:2336-7 [Abstract] [PDF]

Raychaudhuri S, Ripke S, Li M, Neale BM, Fagerness J, Reynolds R, Sobrin L, Swaroop A, Abecasis G, Seddon JM and Daly MJ (2010). Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. Nat Genet 42:553-5 [PDF]

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, (... 128 other authors ...), Wichmann HE, Barroso I, Florez JC, Frayling TM, Groop L, Sladek R, Thorsteinsdottir U, Wilson JF, Illig T, Froguel P, van Duijn CM, Stefansson K, Altshuler D, Boehnke M and McCarthy MI (2010). Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet 42:579-89 [Abstract] [PDF]

Sanna S, Pitzalis M, Zoledziewska M, Zara I, Sidore C, Murru R, Whalen MB, Busonero F, Maschio A, Costa G, Melis MC, Deidda F, Poddie F, Morelli L, Farina G, Li Y, Dei M, Lai S, Mulas A, Cuccuru G, Porcu E, Liang L, Zavattari P, Moi L, Deriu E, Urru MF, Bajorek M, Satta MA, Cocco E, Ferrigno P, Sotgiu S, Pugliatti M, Traccis S, Angius A, Melis M, Rosati G, Abecasis GR, Uda M, Marrosu MG, Schlessinger D and Cucca F (2010). Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Nat Genet 42:495-7 [Abstract] [PDF]

Elder JT, Bruce AT, Gudjonsson JE, Johnston A, Stuart PE, Tejasvi T, Voorhees JJ, Abecasis GR and Nair RP (2010). Molecular dissection of psoriasis: integrating genetics and biology. J Invest Dermatol 130:1213-26 [Abstract] [PDF]

Liu JZ, Tozzi F, Waterworth DM, Pillai SG, Muglia P, Middleton L, Berrettini W, Knouff CW, Yuan X, Waeber G, Vollenweider P, Preisig M, Wareham NJ, Zhao JH, Loos RJ, Barroso I, (... 76 other authors ...), Ahmad T, Mathew CG, Parkes M, Satsangi J, Caulfield M, Munroe PB, Farrall M, Dominiczak A, Worthington J, Thomson W, Eyre S, Barton A, Mooser V, Francks C and Marchini J (2010). Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet 42:436-40 [Abstract] [PDF]

Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, Jakobsdottir J, Tosakulwong N, Pericak-Vance MA, Campochiaro PA, Klein ML, Tan PL, Conley YP, Kanda A, Kopplin L, Li Y, Augustaitis KJ, (... 36 other authors ...), Brion M, Deangelis MM, Weeks DE, Zack DJ, Chew EY, Heckenlively JR, Yoshimura N, Iyengar SK, Francis PJ, Katsanis N, Seddon JM, Haines JL, Gorin MB, Abecasis GR and Swaroop A (2010). Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A 107:7401-6 [Abstract] [PDF]

Chambers JC, Zhang W, Lord GM, van der Harst P, Lawlor DA, Sehmi JS, Gale DP, Wass MN, Ahmadi KR, Bakker SJ, Beckmann J, Bilo HJ, Bochud M, Brown MJ, Caulfield MJ, Connell JM, (... 64 other authors ...), Wallace C, Waterworth D, Zerres K, Waeber G, Wareham NJ, Maxwell PH, McCarthy MI, Jarvelin MR, Mooser V, Abecasis GR, Lightstone L, Scott J, Navis G, Elliott P and Kooner JS (2010). Genetic loci influencing kidney function and chronic kidney disease. Nat Genet 42:373-5 [Abstract] [PDF]

Strunnikova NV, Maminishkis A, Barb JJ, Wang F, Zhi C, Sergeev Y, Chen W, Edwards AO, Stambolian D, Abecasis G, Swaroop A, Munson PJ and Miller SS (2010). Transcriptome analysis and molecular signature of human retinal pigment epithelium. Hum Mol Genet 19:2468-86 [Abstract] [PDF]

Gudjonsson JE, Ding J, Johnston A, Tejasvi T, Guzman AM, Nair RP, Voorhees JJ, Abecasis GR and Elder JT (2010). Assessment of the psoriatic transcriptome in a large sample: additional regulated genes and comparisons with in vitro models. J Invest Dermatol 130:1829-40 [Abstract] [PDF]

Tanaka T, Roy CN, Yao W, Matteini A, Semba RD, Arking D, Walston JD, Fried LP, Singleton A, Guralnik J, Abecasis GR, Bandinelli S, Longo DL and Ferrucci L (2010). A genome-wide association analysis of serum iron concentrations. Blood 115:94-96 [Abstract] [PDF]

Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Magi R, Morris AP, Randall J, Johnson T, Elliott P, (... 273 other authors ...), Waterworth DM, Vollenweider P, Peltonen L, Mooser V, Abecasis GR, Wareham NJ, Sladek R, Froguel P, Watanabe RM, Meigs JB, Groop L, Boehnke M, McCarthy MI, Florez JC and Barroso I (2010). New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 42:105-16 [Abstract] [PDF]

Pfeufer A, van Noord C, Marciante KD, Arking DE, Larson MG, Smith AV, Tarasov KV, Muller M, Sotoodehnia N, Sinner MF, Verwoert GC, Li M, Kao WH, Kottgen A, Coresh J, Bis JC, (... 35 other authors ...), Chakravarti A, Soliman EZ, Lunetta KL, Perz S, Wichmann HE, Meitinger T, Levy D, Gudnason V, Ellinor PT, Sanna S, Kaab S, Witteman JC, Alonso A, Benjamin EJ and Heckbert SR (2010). Genome-wide association study of PR interval. Nat Genet 42:153-9 [Abstract] [PDF]

Ruano D, Abecasis GR, Glaser B, Lips ES, Cornelisse LN, de Jong AP, Evans DM, Smith GD, Timpson NJ, Smit AB, Heutink P, Verhage M and Posthuma D (2010). Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability. Am J Hum Genet 86:113-125 [Abstract] [PDF]

McCrae RR, Scally M, Terracciano A, Abecasis GR and Costa PT Jr (2010). An alternative to the search for single polymorphisms: toward molecular personality scales for the five-factor model. J Pers Soc Psychol 99:1014-24 [Abstract]

Brion M, Sanchez-Salorio M, Corton M, De La Fuente M, Pazos B, Othman M, Swaroop A, Abecasis G, Sobrino B and Carracedo A (2010). Genetic association study of age-related macular degeneration in the Spanish population. Acta Ophthalmol : [Abstract]

Tarasov KV, Sanna S, Scuteri A, Strait JB, Orru M, Parsa A, Lin PI, Maschio A, Lai S, Piras MG, Masala M, Tanaka T, Post W, O'Connell JR, Schlessinger D, Cao A, Nagaraja R, Mitchell BD, Abecasis GR, Shuldiner AR, Uda M, Lakatta EG and Najjar SS (2009). COL4A1 is associated with arterial stiffness by genome-wide association scan. Circ Cardiovasc Genet 2:151-8 [Abstract] [PDF]

Mathias RA, Grant AV, Rafaels N, Hand T, Gao L, Vergara C, Tsai YJ, Yang M, Campbell M, Foster C, Gao P, Togias A, Hansel NN, Diette G, Adkinson NF, Liu MC, Faruque M, Dunston GM, Watson HR, Bracken MB, Hoh J, Maul P, Maul T, Jedlicka AE, Murray T, Hetmanski JB, Ashworth R, Ongaco CM, Hetrick KN, Doheny KF, Pugh EW, Rotimi CN, Ford J, Eng C, Burchard EG, Sleiman PM, Hakonarson H, Forno E, Raby BA, Weiss ST, Scott AF, Kabesch M, Liang L, Abecasis G, Moffatt MF, Cookson WO, Ruczinski I, Beaty TH and Barnes KC (2010). A genome-wide association study on African-ancestry populations for asthma. J Allergy Clin Immunol 125:336-346.e4 [Abstract] [PDF]

2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000

2009

Chambers JC, Zhang W, Li Y, Sehmi J, Wass MN, Zabaneh D, Hoggart C, Bayele H, McCarthy MI, Peltonen L, Freimer NB, Srai SK, Maxwell PH, Sternberg MJ, Ruokonen A, Abecasis G, Jarvelin MR, Scott J, Elliott P and Kooner JS (2009). Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. Nat Genet 41:1170-2 [Abstract] [PDF]

Galanello R, Sanna S, Perseu L, Sollaino MC, Satta S, Lai ME, Barella S, Uda M, Usala G, Abecasis GR and Cao A (2009). Amelioration of Sardinian β0 thalassemia by genetic modifiers. Blood 114:3935-7 [Abstract] [PDF]

Li Y, Willer C, Sanna S and Abecasis G (2009). Genotype imputation. Annu Rev Genomics Hum Genet 10:387-406 [Abstract] [PDF]

Swaroop A, Chew EY, Rickman CB and Abecasis GR (2009). Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet 10:19-43 [Abstract] [PDF]

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G and Durbin R (2009). The Sequence Alignment/Map format and SAMtools. Bioinformatics 25:2078-9 [Abstract] [PDF]

Guan W, Liang L, Boehnke M and Abecasis GR (2009). Genotype-based matching to correct for population stratification in large-scale case-control genetic association studies. Genet Epidemiol 33:508-17 [Abstract] [PDF]

Xu B, Woodroffe A, Rodriguez-Murillo L, Roos JL, van Rensburg EJ, Abecasis GR, Gogos JA and Karayiorgou M (2009). Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans. Proc Natl Acad Sci U S A 106:16746-51 [Abstract] [PDF]

Terracciano A, Balaci L, Thayer J, Scally M, Kokinos S, Ferrucci L, Tanaka T, Zonderman AB, Sanna S, Olla N, Zuncheddu MA, Naitza S, Busonero F, Uda M, Schlessinger D, Abecasis GR and Costa PT Jr (2009). Variants of the serotonin transporter gene and NEO-PI-R Neuroticism: No association in the BLSA and SardiNIA samples. Am J Med Genet B Neuropsychiatr Genet 150B:1070-7 [Abstract] [PDF]

Gudjonsson JE, Ding J, Li X, Nair RP, Tejasvi T, Qin ZS, Ghosh D, Aphale A, Gumucio DL, Voorhees JJ, Abecasis GR and Elder JT (2009). Global gene expression analysis reveals evidence for decreased lipid biosynthesis and increased innate immunity in uninvolved psoriatic skin. J Invest Dermatol 129:2795-804 [Abstract] [PDF]

Feng BJ, Sun LD, Soltani-Arabshahi R, Bowcock AM, Nair RP, Stuart P, Elder JT, Schrodi SJ, Begovich AB, Abecasis GR, Zhang XJ, Callis-Duffin KP, Krueger GG and Goldgar DE (2009). Multiple Loci within the major histocompatibility complex confer risk of psoriasis. PLoS Genet 5:e1000606 [Abstract] [PDF]

Lindgren CM, Heid IM, Randall JC, Lamina C, Steinthorsdottir V, Qi L, Speliotes EK, Thorleifsson G, Willer CJ, Herrera BM, Jackson AU, Lim N, Scheet P, Soranzo N, Amin N, Aulchenko YS, (... 113 other authors ...), Boehnke M, Deloukas P, Groop L, Hunter DJ, Thorsteinsdottir U, Schlessinger D, Wichmann HE, Frayling TM, Abecasis GR, Hirschhorn JN, Loos RJ, Stefansson K, Mohlke KL, Barroso I and McCarthy MI (2009). Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution. PLoS Genet 5:e1000508 [Abstract] [PDF]

Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Granse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Goring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andreasson S and Swaroop A (2009). Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet 84:792-800 [Abstract] [PDF]

Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L, Najjar SS, Zhao JH, Heath SC, Eyheramendy S, Papadakis K, Voight BF, Scott LJ, Zhang F, Farrall M, Tanaka T, (... 128 other authors ...), Tuomilehto J, Altshuler D, Strachan DP, Laan M, Meneton P, Wareham NJ, Uda M, Jarvelin MR, Mooser V, Melander O, Loos RJ, Elliott P, Abecasis GR, Caulfield M and Munroe PB (2009). Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet 41:666-676 [Abstract] [PDF]

Sanna S, Busonero F, Maschio A, McArdle PF, Usala G, Dei M, Lai S, Mulas A, Piras MG, Perseu L, Masala M, Marongiu M, Crisponi L, Naitza S, Galanello R, Abecasis GR, Shuldiner AR, Schlessinger D, Cao A and Uda M (2009). Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. Hum Mol Genet 18:2711-8 [Abstract] [PDF]

Nair RP, Ding J, Duffin KC, Helms C, Voorhees JJ, Krueger GG, Bowcock AM, Abecasis GR and Elder JT (2009). Psoriasis bench to bedside: genetics meets immunology. Arch Dermatol 145:462-4 [PDF]

Tanaka T, Scheet P, Giusti B, Bandinelli S, Piras MG, Usala G, Lai S, Mulas A, Corsi AM, Vestrini A, Sofi F, Gori AM, Abbate R, Guralnik J, Singleton A, Abecasis GR, Schlessinger D, Uda M and Ferrucci L (2009). Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am J Hum Genet 84:477-82 [Abstract] [PDF]

Pfeufer A, Sanna S, Arking DE, Muller M, Gateva V, Fuchsberger C, Ehret GB, Orru M, Pattaro C, Kottgen A, Perz S, Usala G, Barbalic M, Li M, Putz B, Scuteri A, Prineas RJ, Sinner MF, Gieger C, Najjar SS, Kao WH, Muhleisen TW, Dei M, Happle C, Mohlenkamp S, Crisponi L, Erbel R, Jockel KH, Naitza S, Steinbeck G, Marroni F, Hicks AA, Lakatta E, Muller-Myhsok B, Pramstaller PP, Wichmann HE, Schlessinger D, Boerwinkle E, Meitinger T, Uda M, Coresh J, Kaab S, Abecasis GR and Chakravarti A (2009). Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet 41:407-14 [Abstract] [PDF]

Cookson W, Liang L, Abecasis G, Moffatt M and Lathrop M (2009). Mapping complex disease traits with global gene expression. Nat Rev Genet 10:184-94 [Abstract] [PDF]

Huang L, Li Y, Singleton AB, Hardy JA, Abecasis G, Rosenberg NA and Scheet P (2009). Genotype-imputation accuracy across worldwide human populations. Am J Hum Genet 84:235-50 [Abstract] [PDF]

Nair RP, Duffin KC, Helms C, Ding J, Stuart PE, Goldgar D, Gudjonsson JE, Li Y, Tejasvi T, Feng BJ, Ruether A, Schreiber S, Weichenthal M, Gladman D, Rahman P, Schrodi SJ, Prahalad S, Guthery SL, Fischer J, Liao W, Kwok PY, Menter A, Lathrop GM, Wise CA, Begovich AB, Voorhees JJ, Elder JT, Krueger GG, Bowcock AM and Abecasis GR (2009). Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet 41:199-204 [Abstract] [PDF]

de Cid R, Riveira-Munoz E, Zeeuwen PL, Robarge J, Liao W, Dannhauser EN, Giardina E, Stuart PE, Nair R, Helms C, Escaramis G, Ballana E, Martin-Ezquerra G, den Heijer M, Kamsteeg M, Joosten I, Eichler EE, Lazaro C, Pujol RM, Armengol L, Abecasis G, Elder JT, Novelli G, Armour JA, Kwok PY, Bowcock A, Schalkwijk J and Estivill X (2009). Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet 41:211-5 [Abstract] [PDF]

Liang L, Chen WM, Sham PC and Abecasis GR (2009). Variance Components Linkage Analysis with Repeated Measurements. Hum Hered 67:237-247 [Abstract] [PDF] [Web]

Chen W, Liang L and Abecasis GR (2009). GWAS GUI: graphical browser for the results of whole-genome association studies with high-dimensional phenotypes. Bioinformatics 25:284-5 [Abstract] [PDF] [Web]

Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon HN, McCarroll SA, Papadakis K, Qi L, (... 115 other authors ...), Deloukas P, Frayling TM, Groop LC, Hayes RB, Hunter DJ, Mohlke KL, Peltonen L, Schlessinger D, Strachan DP, Wichmann HE, McCarthy MI, Boehnke M, Barroso I, Abecasis GR and Hirschhorn JN (2009). Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 41:25-34 [Abstract] [PDF]

Prokopenko I, Langenberg C, Florez JC, Saxena R, Soranzo N, Thorleifsson G, Loos RJ, Manning AK, Jackson AU, Aulchenko Y, Potter SC, Erdos MR, Sanna S, Hottenga JJ, Wheeler E, Kaakinen M, (... 78 other authors ...), Peltonen L, Groop LC, Mooser V, Cupples LA, Thorsteinsdottir U, Boehnke M, Barroso I, Van Duijn C, Dupuis J, Watanabe RM, Stefansson K, McCarthy MI, Wareham NJ, Meigs JB and Abecasis GR (2009). Variants in MTNR1B influence fasting glucose levels. Nat Genet 41:77-81 [Abstract] [PDF]

Kathiresan S, Willer CJ, Peloso GM, Demissie S, Musunuru K, Schadt EE, Kaplan L, Bennett D, Li Y, Tanaka T, Voight BF, Bonnycastle LL, Jackson AU, Crawford G, Surti A, Guiducci C, (... 31 other authors ...), Tuomilehto J, Collins FS, Groop L, Altshuler D, Collins R, Lathrop GM, Melander O, Salomaa V, Peltonen L, Orho-Melander M, Ordovas JM, Boehnke M, Abecasis GR, Mohlke KL and Cupples LA (2009). Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet 41:56-65 [Abstract] [PDF] [Web]

Tanaka T, Shen J, Abecasis GR, Kisialiou A, Ordovas JM, Guralnik JM, Singleton A, Bandinelli S, Cherubini A, Arnett D, Tsai MY and Ferrucci L (2009). Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. PLoS Genet 5:e1000338 [Abstract] [PDF]

Brookes AJ, Chanock SJ, Hudson TJ, Peltonen L, Abecasis G, Kwok PY and Scherer SW (2009). Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008. Hum Mutat 30:1134-8 [Abstract] [PDF]

Ng MY, Levinson DF, Faraone SV, Suarez BK, DeLisi LE, Arinami T, Riley B, Paunio T, Pulver AE, Irmansyah, Holmans PA, Escamilla M, Wildenauer DB, Williams NM, Laurent C, Mowry BJ, (... 52 other authors ...), Roos JL, Kohn Y, Amann-Zalcenstein D, Kalsi G, McQuillin A, Curtis D, Brynjolfson J, Sigmundsson T, Petursson H, Sanders AR, Duan J, Jazin E, Myles-Worsley M, Karayiorgou M and Lewis CM (2009). Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Mol Psychiatry 14:774-85 [Abstract] [PDF]

2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000

2008

Mohlke KL, Boehnke M and Abecasis GR (2008). Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants. Hum Mol Genet 17:R102-8 [Abstract] [PDF]

Gaulton KJ, Willer CJ, Li Y, Scott LJ, Conneely KN, Jackson AU, Duren WL, Chines PS, Narisu N, Bonnycastle LL, Luo J, Tong M, Sprau AG, Pugh EW, Doheny KF, Valle TT, Abecasis GR, Tuomilehto J, Bergman RN, Collins FS, Boehnke M and Mohlke KL (2008). Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes. Diabetes 57:3136-44 [Abstract] [PDF]

Terracciano A, Sanna S, Uda M, Deiana B, Usala G, Busonero F, Maschio A, Scally M, Patriciu N, Chen WM, Distel MA, Slagboom EP, Boomsma DI, Villafuerte S, Sliwerska E, Burmeister M, Amin N, Janssens AC, van Duijn CM, Schlessinger D, Abecasis GR and Costa PT Jr (2008). Genome-wide association scan for five major dimensions of personality. Mol Psychiatry 15:647-56 (Epub Oct 28 2008) [Abstract] [PDF]

Orho-Melander M, Melander O, Guiducci C, Perez-Martinez P, Corella D, Roos C, Tewhey R, Rieder MJ, Hall J, Abecasis G, Tai ES, Welch C, Arnett DK, Lyssenko V, Lindholm E, Saxena R, de Bakker PI, Burtt N, Voight BF, Hirschhorn JN, Tucker KL, Hedner T, Tuomi T, Isomaa B, Eriksson KF, Taskinen MR, Wahlstrand B, Hughes TE, Parnell LD, Lai CQ, Berglund G, Peltonen L, Vartiainen E, Jousilahti P, Havulinna AS, Salomaa V, Nilsson P, Groop L, Altshuler D, Ordovas JM and Kathiresan S (2008). Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes 57:3112-21 [Abstract] [PDF]

Arnaud-Lopez L, Usala G, Ceresini G, Mitchell BD, Pilia MG, Piras MG, Sestu N, Maschio A, Busonero F, Albai G, Dei M, Lai S, Mulas A, Crisponi L, Tanaka T, Bandinelli S, Guralnik JM, Loi A, Balaci L, Sole G, Prinzis A, Mariotti S, Shuldiner AR, Cao A, Schlessinger D, Uda M, Abecasis GR, Nagaraja R, Sanna S and Naitza S (2008). Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function. Am J Hum Genet 82:1270-80 [Abstract] [PDF]

Chen WM, Erdos MR, Jackson AU, Saxena R, Sanna S, Silver KD, Timpson NJ, Hansen T, Orru M, Grazia Piras M, Bonnycastle LL, Willer CJ, Lyssenko V, Shen H, Kuusisto J, Ebrahim S, Sestu N, Duren WL, Spada MC, Stringham HM, Scott LJ, Olla N, Swift AJ, Najjar S, Mitchell BD, Lawlor DA, Smith GD, Ben-Shlomo Y, Andersen G, Borch-Johnsen K, Jorgensen T, Saramies J, Valle TT, Buchanan TA, Shuldiner AR, Lakatta E, Bergman RN, Uda M, Tuomilehto J, Pedersen O, Cao A, Groop L, Mohlke KL, Laakso M, Schlessinger D, Collins FS, Altshuler D, Abecasis GR, Boehnke M, Scuteri A and Watanabe RM (2008). Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. J Clin Invest 118:2620-8 [Abstract] [PDF]

Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, Berndt SI, Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial (Jacobs KB, Chanock SJ, Hayes Bergmann S, Bergmann S, Bennett AJ, Bingham SA, Bochud M, (... 77 other authors ...), Yuan X, Zeggini E, Hirschhorn JN, Strachan DP, Ouwehand WH, Caulfield MJ, Samani NJ, Frayling TM, Vollenweider P, Waeber G, Mooser V, Deloukas P, McCarthy MI, Wareham NJ and Barroso I (2008). Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet 40:768-75 [Abstract] [PDF]

Lettre G, Jackson AU, Gieger C, Schumacher FR, Berndt SI, Sanna S, Eyheramendy S, Voight BF, Butler JL, Guiducci C, Illig T, Hackett R, Heid IM, Jacobs KB, Lyssenko V, Uda M, Boehnke M, Chanock SJ, Groop LC, Hu FB, Isomaa B, Kraft P, Peltonen L, Salomaa V, Schlessinger D, Hunter DJ, Hayes RB, Abecasis GR, Wichmann HE, Mohlke KL and Hirschhorn JN (2008). Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet 40:584-91 [Abstract] [PDF]

Zeggini E, Scott LJ, Saxena R, Voight BF and The DIAGRAM Consortium (2008). Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 40:638-45 [Abstract] [PDF]

McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP and Hirschhorn JN (2008). Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 9:356-69 [Abstract] [PDF]

Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke R, Heath SC, Timpson NJ, Najjar SS, Stringham HM, Strait J, Duren WL, Maschio A, Busonero F, Mulas A, Albai G, Swift AJ, Morken MA, Narisu N, Bennett D, Parish S, Shen H, Galan P, Meneton P, Hercberg S, Zelenika D, Chen WM, Li Y, Scott LJ, Scheet PA, Sundvall J, Watanabe RM, Nagaraja R, Ebrahim S, Lawlor DA, Ben-Shlomo Y, Davey-Smith G, Shuldiner AR, Collins R, Bergman RN, Uda M, Tuomilehto J, Cao A, Collins FS, Lakatta E, Lathrop GM, Boehnke M, Schlessinger D, Mohlke KL and Abecasis GR (2008). Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet 40:161-9 [Abstract] [PDF] [Web]

Sanna S, Jackson AU, Nagaraja R, Willer CJ, Chen WM, Bonnycastle LL, Shen H, Timpson N, Lettre G, Usala G, Chines PS, Stringham HM, Scott LJ, Dei M, Lai S, Albai G, Crisponi L, Naitza S, Doheny KF, Pugh EW, Ben-Shlomo Y, Ebrahim S, Lawlor DA, Bergman RN, Watanabe RM, Uda M, Tuomilehto J, Coresh J, Hirschhorn JN, Shuldiner AR, Schlessinger D, Collins FS, Davey Smith G, Boerwinkle E, Cao A, Boehnke M, Abecasis GR and Mohlke KL (2008). Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet 40:198-203 [Abstract] [PDF]

Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D and Cao A (2008). Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A 105:1620-5 [Abstract] [PDF]

Kanda A, Abecasis G and Swaroop A (2008). Inflammation in the pathogenesis of age-related macular degeneration. Br J Ophthalmol 92:448-50 [Abstract] [PDF]

Edwards AO, Chen D, Fridley BL, James KM, Wu Y, Abecasis G, Swaroop A, Othman M, Branham K, Iyengar SK, Sivakumaran TA, Klein R, Klein BE and Tosakulwong N (2008). Toll-like Receptor Polymorphisms and Age-Related Macular Degeneration. Invest Ophthalmol Vis Sci 49:1652-9 [Abstract]

2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000

2007

The International HapMap Consortium (2007). A second generation human haplotype map of over 3.1 million SNPs. Nature 449:851-61 [Abstract] [PDF] [Web]

Li S, Sanna S, Maschio A, Busonero F, Usala G, Mulas A, Lai S, Dei M, Orru M, Albai G, Bandinelli S, Schlessinger D, Lakatta E, Scuteri A, Najjar SS, Guralnik J, Naitza S, Crisponi L, Cao A, Abecasis G, Ferrucci L, Uda M, Chen WM and Nagaraja R (2007). The GLUT9 Gene Is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts. PLoS Genet 3:e194 [Abstract] [PDF]

Chen WM and Abecasis GR (2007). Family-based association tests for genomewide association scans. Am J Hum Genet 81:913-26 [Abstract] [PDF] [Web]

Swaroop A, Branham KE, Chen W and Abecasis G (2007). Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum Mol Genet 16 Special Review Issue No. 2:R174-82 [Abstract] [PDF]

Kanda A, Chen W, Othman M, Branham KE, Brooks M, Khanna R, He S, Lyons R, Abecasis GR and Swaroop A (2007). A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci U S A 104:16227-32 [Abstract] [PDF]

Dixon AL, Liang L, Moffatt MF, Chen W, Heath S, Wong KC, Taylor J, Burnett E, Gut I, Farrall M, Lathrop GM, Abecasis GR and Cookson WO (2007). A genome-wide association study of global gene expression. Nat Genet 39:1202-7 [Abstract] [PDF] [Web]

Manolio TA, Rodriguez LL, Brooks L, Abecasis G, Ballinger D, Daly M, Donnelly P, Faraone SV, Frazer K, Gabriel S, Gejman P, Guttmacher A, Harris EL, Insel T, Kelsoe JR, Lander E, McCowin N, Mailman MD, Nabel E, Ostell J, Pugh E, Sherry S, Sullivan PF, Thompson JF, Warram J, Wholley D, Milos PM and Collins FS (2007). New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet 39:1045-1051 [Abstract] [PDF]

Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, Depner M, von Berg A, Bufe A, Rietschel E, Heinzmann A, Simma B, Frischer T, Willis-Owen SA, Wong KC, Illig T, Vogelberg C, Weiland SK, von Mutius E, Abecasis GR, Farrall M, Gut IG, Lathrop GM and Cookson WO (2007). Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 448 :470-3 [Abstract] [PDF]

Scuteri A, Sanna S, Chen WM, Uda M, Albai G, Strait J, Najjar S, Nagarajah R, Orru M, Usala G, Dei M, Lai S, Maschio A, Busonero F, Mulas A, Ehret GB, Fink AA, Weder A, Cooper R, Galan P, Chakravarti A, Schlessinger D, Cao A, Lakatta E and Abecasis GR (2007). Genome Wide Association Scan shows Genetic Variants in the FTO gene are Associated with Obesity Related Traits PLoS Genetics 3:1200-10 [Abstract] [PDF]

ENCODE Project Consortium (2007). Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447:799-816 [Abstract] [PDF]

NCI-NHGRI Working Group on Replication in Association Studies (2007). Replicating genotype-phenotype associations. Nature 447:655-60 [PDF]

Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, Erdos MR, Stringham HM, Chines PS, Jackson AU, Prokunina-Olsson L, Ding CJ, Swift AJ, Narisu N, Hu T, Pruim R, Xiao R, Li XY, Conneely KN, Riebow NL, Sprau AG, Tong M, White PP, Hetrick KN, Barnhart MW, Bark CW, Goldstein JL, Watkins L, Xiang F, Saramies J, Buchanan TA, Watanabe RM, Valle TT, Kinnunen L, Abecasis GR, Pugh EW, Doheny KF, Bergman RN, Tuomilehto J, Collins FS and Boehnke M (2007). A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316:1341-5 [Abstract] [PDF]

Skol AD, Scott LJ, Abecasis GR and Boehnke M (2007). Optimal designs for two-stage genome-wide association studies. Genet Epidemiol 31:776-8 [Abstract] [PDF] [Web]

Liang L, Zollner S and Abecasis GR (2007). GENOME: a rapid coalescent-based whole genome simulator. Bioinformatics 23:1565-7 [Abstract] [PDF] [Web]

Abecasis G, Tam PK, Bustamante CD, Ostrander EA, Scherer SW, Chanock SJ, Kwok PY and Brookes AJ (2007). Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis. Nat Genet 39:153-5 [Abstract] [PDF]

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2006

Li M, Atmaca-Sonmez P, Othman M, Branham KE, Khanna R, Wade MS, Li Y, Liang L, Zareparsi S, Swaroop A and Abecasis GR (2006). CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet 38:1049-1054 [Abstract] [PDF]

Pilia G, Chen WM, Scuteri A, Orru M, Albai G, Dei M, Lai S, Usala G, Lai M, Loi P, Mameli C, Vacca L, Deiana M, Olla N, Masala M, Cao A, Najjar SS, Terracciano A, Nedorezov T, Sharov A, Zonderman AB, Abecasis GR, Costa P, Lakatta E and Schlessinger D (2006). Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians. PLoS Genet 2:1207-1223 [Abstract] [PDF] [Web]

Burdick JT, Chen WM, Abecasis GR and Cheung VG (2006). In silico method for inferring genotypes in pedigrees. Nat Genet 38:1002-4 [Abstract] [PDF]

Li M, Boehnke M, Abecasis GR and Song PX (2006). Quantitative trait linkage analysis using gaussian copulas. Genetics 173:2317-27 [Abstract] [PDF]

Fingerlin TE, Abecasis GR and Boehnke M (2006). Using sex-averaged genetic maps in multipoint linkage analysis when identity-by-descent status is incompletely known. Genet Epidemiol 30:384-96 [Abstract] [PDF]

Chen WM and Abecasis GR (2006). Estimating the power of variance component linkage analysis in large pedigrees. Genet Epidemiol 30:471-84 [Abstract] [PDF]

Wigginton JE and Abecasis GR (2006). An evaluation of the replicate pool method: quick estimation of genome-wide linkage peak p-values. Genet Epidemiol 30:320-32 [Abstract] [PDF] [Web]

Nair RP, Stuart PE, Nistor I, Hiremagalore R, Chia NV, Jenisch S, Weichenthal M, Abecasis GR, Lim HW, Christophers E, Voorhees JJ and Elder JT (2006). Sequence and Haplotype Analysis Supports HLA-C as the Psoriasis Susceptibility 1 Gene. Am J Hum Genet 78:827-51 [Abstract] [PDF]

Li M, Boehnke M and Abecasis GR (2006). Efficient study designs for test of genetic association using sibship data and unrelated cases and controls. Am J Hum Genet 78:778-92 [Abstract] [PDF] [Web]

Skol AD, Scott LJ, Abecasis GR and Boehnke M (2006). Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 38:209-13 [Abstract] [PDF] [Web]

Qin ZS, Gopalakrishnan S and Abecasis GR (2006). An efficient comprehensive search algorithm for tagSNP selection using linkage disequilibrium criteria. Bioinformatics 22:220-5 [Abstract] [PDF] [Web]

Marchini J, Cutler D, Patterson N, Stephens M, Eskin E, Halperin E, Lin S, Qin ZS, Munro HM, Abecasis GR and Donnelly P (2006). A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet 78:437-50 [Abstract] [PDF]

Stuart P, Nair RP, Abecasis GR, Nistor I, Hiremagalore R, Chia NV, Qin ZS, Thompson RA, Jenisch S, Weichenthal M, Janiga J, Lim HW, Christophers E, Voorhees JJ and Elder JT (2006). Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage. J Med Genet 43:12-7 [Abstract] [PDF]

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2005

The International HapMap Consortium. (2005). A haplotype map of the human genome. Nature 437:1299-320 [Abstract] [PDF]

Abecasis GR and Wigginton JE (2005). Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers. Am J Hum Genet 77:754-67 [Abstract] [PDF] [Web]

Smith AV, Thomas DJ, Munro HM and Abecasis GR (2005). Sequence features in regions of weak and strong linkage disequilibrium. Genome Res 15:1519-34 [Abstract] [PDF]

Fisher SA, Abecasis GR, Yashar BM, Zareparsi S, Swaroop A, Iyengar SK, Klein BE, Klein R, Lee KE, Majewski J, Schultz DW, Klein ML, Seddon JM, Santangelo SL, Weeks DE, Conley YP, Mah TS, Schmidt S, Haines JL, Pericak-Vance MA, Gorin MB, Schulz HL, Pardi F, Lewis CM and Weber BH (2005). Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet 14:2257-64 [Abstract] [PDF]

Wigginton JE and Abecasis GR (2005). PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 21:3445-7 [Abstract] [PDF] [Web]

Cluster 17 Collaboration (2005). Fine mapping of the psoriasis susceptibility gene PSORS1: a reassessment of risk associated with a putative risk haplotype lacking HLA-Cw6. J Invest Dermatol 124:921-30 [Abstract]

Zareparsi S, Branham KE, Li M, Shah S, Klein RJ, Ott J, Hoh J, Abecasis GR and Swaroop A (2005). Strong Association of the Y402H Variant in Complement Factor H at 1q32 with Susceptibility to Age-Related Macular Degeneration. Am J Hum Genet 77:149-53 [Abstract] [PDF]

Li M, Boehnke M and Abecasis GR (2005). Joint Modeling of Linkage and Association: Identifying SNPs Responsible for a Linkage Signal. Am J Hum Genet 76:934-49 [Abstract] [PDF] [Web]

Abecasis GR, Ghosh D and Nichols TE (2005). Linkage disequilibrium: ancient history drives the new genetics. Hum Hered 59:118-24 [Abstract] [PDF]

Zareparsi S, Buraczynska M, Branham KE, Shah S, Eng D, Li M, Pawar H, Yashar BM, Moroi SE, Lichter PR, Petty HR, Richards JE, Abecasis GR, Elner VM and Swaroop A (2005). Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Hum Mol Genet 14:1449-55 [Abstract]

Wigginton JE, Cutler DJ and Abecasis GR (2005). A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet 76:887-93 [Abstract] [PDF] [Web]

Nistor I, Nair RP, Stuart P, Hiremagalore R, Thompson RA, Jenisch S, Weichenthal M, Abecasis GR, Qin ZS, Christophers E, Lim HW, Voorhees JJ and Elder JT (2005). Protein tyrosine phosphatase gene PTPN22 polymorphism in psoriasis: lack of evidence for association. J Invest Dermatol 125:395-6 [PDF]

Abecasis GR and Zhao Y (2005). Algorithmic improvements in gene-mapping. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics Section 1.4:Gene Mapping [Abstract] [PDF]

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2004

Nash MW, Huezo-Diaz P, Williamson RJ, Sterne A, Purcell S, Hoda F, Cherny SS, Abecasis GR, Prince M, Gray JA, Ball D, Asherson P, Mann A, Goldberg D, McGuffin P, Farmer A, Plomin R, Craig IW and Sham PC (2004). Genome-wide linkage analysis of a composite index of neuroticism and mood-related scales in extreme selected sibships. Hum Mol Genet 13:2173-82 [Abstract]

Abecasis G, Cox N, Daly MJ, Kruglyak L, Laird N, Markianos K and Patterson N (2004). No bias in linkage analysis. Am J Hum Genet 75:722-3 [Abstract] [PDF]

The International HapMap Consortium (2004). Integrating ethics and science in the International HapMap Project. Nat Rev Genet 5:467-75 [Abstract] [PDF]

Abecasis GR, Yashar BM, Zhao Y, Ghiasvand NM, Zareparsi S, Branham KE, Reddick AC, Trager EH, Yoshida S, Bahling J, Filippova E, Elner S, Johnson MW, Vine AK, Sieving PA, Jacobson SG, Richards JE and Swaroop A (2004). Age-related macular degeneration: a high-resolution genome scan for susceptibility Loci in a population enriched for late-stage disease. Am J Hum Genet 74:482-94 [Abstract] [PDF]

Fingerlin TE, Boehnke M and Abecasis GR (2004). Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information. Am J Hum Genet 74:432-43 [Abstract] [PDF] [Web]

Abecasis GR, Burt RA, Hall D, Bochum S, Doheny KF, Lundy SL, Torrington M, Roos JL, Gogos JA and Karayiorgou M (2004). Genomewide scan in families with schizophrenia from the founder population of afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1. Am J Hum Genet 74:403-17 [Abstract] [PDF]

Karayiorgou M, Torrington M, Abecasis GR, Pretorius H, Robertson B, Kaliski S, Lay S, Sobin C, Moller N, Lundy SL, Blundell ML, Gogos JA and Roos JL (2004). Phenotypic characterization and genealogical tracing in an Afrikaner schizophrenia database. Am J Med Genet 124B:20-8 [Abstract] [PDF]

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2003

Cardon LR and Abecasis GR (2003). Using haplotype blocks to map human complex trait loci. Trends Genet 19:135-40 [Abstract] [PDF]

Phillips MS, Lawrence R, Sachidanandam R, Morris AP, Balding DJ, Donaldson MA, Studebaker JF, Ankener WM, Alfisi SV, Kuo FS, Camisa AL, Pazorov V, Scott KE, Carey BJ, Faith J, Katari G, Bhatti HA, Cyr JM, Derohannessian V, Elosua C, Forman AM, Grecco NM, Hock CR, Kuebler JM, Lathrop JA, Mockler MA, Nachtman EP, Restine SL, Varde SA, Hozza MJ, Gelfand CA, Broxholme J, Abecasis GR, Boyce-Jacino MT and Cardon LR (2003). Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nat Genet 33:382-7 [Abstract] [PDF]

Zhang Y, Leaves NI, Anderson GG, Ponting CP, Broxholme J, Holt R, Edser P, Bhattacharyya S, Dunham A, Adcock IM, Pulleyn L, Barnes PJ, Harper JI, Abecasis G, Cardon L, White M, Burton J, Matthews L, Mott R, Ross M, Cox R, Moffatt MF and Cookson WO (2003). Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma. Nat Genet 34:181-6 [Abstract] [PDF]

Allen M, Heinzmann A, Noguchi E, Abecasis G, Broxholme J, Ponting CP, Bhattacharyya S, Tinsley J, Zhang Y, Holt R, Jones EY, Lench N, Carey A, Jones H, Dickens NJ, Dimon C, Nicholls R, Baker C, Xue L, Townsend E, Kabesch M, Weiland SK, Carr D, Von Mutius E, Adcock IM, Barnes PJ, Lathrop GM, Edwards M, Moffatt MF and Cookson WO (2003). Positional cloning of a novel gene influencing asthma from Chromosome 2q14. Nat Genet 35:258-63 [Abstract] [PDF]

Zeegers MP, Rice JP, Rijsdijk FV, Abecasis GR and Sham PC (2003). Regression-based sib pair linkage analysis for binary traits. Hum Hered 55:125-31 [Abstract]

The International HapMap Consortium. (2003). The International HapMap Project. Nature 426:789-96 [Abstract] [PDF]

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2002

Liu H, Abecasis GR, Heath SC, Knowles A, Demars S, Chen YJ, Roos JL, Rapoport JL, Gogos JA and Karayiorgou M (2002). Genetic variation in the 22q11 locus and susceptibility to schizophrenia. Proc Natl Acad Sci U S A 99:16859-64 [Abstract] [PDF]

Dawson E, Abecasis GR, Bumpstead S, Chen Y, Hunt S, Beare DM, Pabial J, Dibling T, Tinsley E, Kirby S, Carter D, Papaspyridonos M, Livingstone S, Ganske R, Lohmussaar E, Zernant J, Tonisson N, Remm M, Magi R, Puurand T, Vilo J, Kurg A, Rice K, Deloukas P, Mott R, Metspalu A, Bentley DR, Cardon LR and Dunham I (2002). A first-generation linkage disequilibrium map of human chromosome 22. Nature 418:544-548 [Abstract] [PDF] [Web]

Sham PC, Purcell S, Cherny SS and Abecasis GR (2002). Powerful regression-based quantitative-trait linkage analysis of general pedigrees. Am J Hum Genet 71:238-53 [Abstract] [PDF] [Web]

Zhang W, Collins A, Abecasis GR, Cardon LR and Morton NE (2002). Mapping quantitative effects of oligogenes by allelic association. Ann Hum Genet 66:211-21 [Abstract] [PDF]

Anderson GG, Leaves NI, Bhattacharyya S, Zhang Y, Walshe V, Broxholme J, Abecasis G, Levy E, Zimmer M, Cox R and Cookson WO (2002). Positive association to IgE levels and a physical map of the 13q14 atopy locus. Eur J Hum Genet 10:266-70 [Abstract] [PDF]

Abecasis GR, Cherny SS, Cookson WO and Cardon LR (2002). Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97-101 [Abstract] [PDF] [Web]

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2001

Cookson WOCM and Abecasis GR (2001). Oxford genome screen for asthma-associated traits. Genet Epidemiol 21:S1-S3 [Abstract] [PDF]

Cherny, SS, Abecasis, GR, Cookson, WOC, Sham, PC and Cardon, LR (2001). The effect of genotype and pedigree error on linkage analysis: Analysis of three asthma genome scans. Genet Epidemiol 21:S117-S122 [Abstract] [PDF]

Abecasis, GR, Cardon, LR, Cookson, WOC, Sham, PC and Cherny, SS (2001). Association analysis in a variance components framework. Genet Epidemiol 21:S341-346 [Abstract] [PDF]

Walley AJ, Chavanas S, Moffatt MF, Esnouf RM, Ubhi B, Lawrence R, Wong K, Abecasis GR, Jones EY, Harper JI, Hovnanian A and Cookson WO (2001). Gene polymorphism in Netherton and common atopic disease. Nat Genet 29:175-8 [Abstract]

Abecasis GR, Cherny SS, Cookson WO and Cardon LR (2001). GRR: graphical representation of relationship errors. Bioinformatics 17:742-3 [Abstract] [PDF] [Web]

Moffatt MF, Schou C, Faux JA, Abecasis GR, James A, Musk AW and Cookson WO (2001). Association between quantitative traits underlying asthma and the HLA-DRB1 locus in a family-based population sample. Eur J Hum Genet 9:341-6 [Abstract]

Abecasis GR, Cookson WO and Cardon LR (2001). The power to detect linkage disequilibrium with quantitative traits in selected samples. Am J Hum Genet 68:1463-74 [Abstract] [PDF]

McKenzie CA, Abecasis GR, Keavney B, Forrester T, Ratcliffe PJ, Julier C, Connell JM, Bennett F, McFarlane-Anderson N, Lathrop GM and Cardon LR (2001). Trans-ethnic fine mapping of a quantitative trait locus for circulating angiotensin I-converting enzyme (ACE). Hum Mol Genet 10:1077-84 [Abstract] [PDF]

Abecasis GR, Cherny SS and Cardon LR (2001). The impact of genotyping error on family-based analysis of quantitative traits. Eur J Hum Genet 9:130-4 [Abstract] [PDF]

Cookson WO, Ubhi B, Lawrence R, Abecasis GR, Walley AJ, Cox HE, Coleman R, Leaves NI, Trembath RC, Moffatt MF and Harper JI (2001). Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. Nat Genet 27:372-3 [Abstract] [PDF]

Abecasis GR, Noguchi E, Heinzmann A, Traherne JA, Bhattacharyya S, Leaves NI, Anderson GG, Zhang Y, Lench NJ, Carey A, Cardon LR, Moffatt MF and Cookson WO (2001). Extent and distribution of linkage disequilibrium in three genomic regions. Am J Hum Genet 68:191-197 [Abstract] [PDF]

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2000

Cardon LR and Abecasis GR (2000). Regression models for association studies of quantitative trait loci in humans. GeneScreen 1:55-57 [Abstract]

Cardon LR and Abecasis GR (2000). Some properties of a variance components model for fine-mapping quantitative trait loci. Behav Genet 30:235-43 [Abstract] [PDF]

Abecasis GR, Cookson WO and Cardon LR (2000). Pedigree tests of transmission disequilibrium. Eur J Hum Genet 8:545-51 [Abstract] [PDF] [Web]

Moffatt MF, Traherne JA, Abecasis GR and Cookson WO (2000). Single nucleotide polymorphism and linkage disequilibrium within the TCR alpha/delta locus. Hum Mol Genet 9:1011-1019 [Abstract] [PDF]

Abecasis GR and Cookson WO (2000). GOLD--graphical overview of linkage disequilibrium. Bioinformatics 16:182-3 [Abstract] [PDF] [Web]

Abecasis GR, Cardon LR and Cookson WO (2000). A General Test of Association for Quantitative Traits in Nuclear Families. Am J Hum Genet 66:279-292 [Abstract] [PDF] [Web]

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