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Nat Genet. 2013;45(10):1150-9 - PMID: 23974872 - PMCID: PMC3827979
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The convergent evolution of blue iris pigmentation in primates took distinct molecular paths.
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Methods Mol Biol. 2013;1038:113-35 - PMID: 23872972
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LoQAtE--Localization and Quantitation ATlas of the yeast proteomE. A new tool for multiparametric dissection of single-protein behavior in response to biological perturbations in yeast.
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Higher magnesium intake is associated with lower fasting glucose and insulin, with no evidence of interaction with select genetic loci, in a meta-analysis of 15 CHARGE Consortium Studies.
J Nutr. 2013;143(3):345-53 - PMID: 23343670 - PMCID: PMC3713023
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Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
PLoS Genet. 2013;9(6):e1003500 - PMID: 23754948 - PMCID: PMC3674993
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Am J Hum Genet. 2013;93(2):236-48 - PMID: 23891470 - PMCID: PMC3738834
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Discovery and refinement of loci associated with lipid levels.
Nat Genet. 2013;45(11):1274-83 - PMID: 24097068 - PMCID: PMC3838666
Ganna A, Ortega-Alonso A, Havulinna A, Salomaa V, Kaprio J, Pedersen NL, Sullivan PF, Ingelsson E, Hultman CM, Magnusson PK
Utilizing twins as controls for non-twin case-materials in genome wide association studies.
PLoS One. 2013;8(12):e83101 - PMID: 24340086 - PMCID: PMC3858365
Ganna A, Rivadeneira F, Hofman A, Uitterlinden AG, Magnusson PK, Pedersen NL, Ingelsson E, Tiemeier H
Genetic determinants of mortality. Can findings from genome-wide association studies explain variation in human mortality?
Hum Genet. 2013;132(5):553-61 - PMID: 23354976
Ganna A, Magnusson PK, Pedersen NL, de Faire U, Reilly M, Arnlöv J, Sundström J, Hamsten A, Ingelsson E
Multilocus genetic risk scores for coronary heart disease prediction.
Arterioscler Thromb Vasc Biol. 2013;33(9):2267-72 - PMID: 23685553
Ganna A, Ortega-Alonso A, Havulinna A, Salomaa V, Kaprio J, Pedersen NL, Sullivan PF, Ingelsson E, Hultman CM, Magnusson PK
Utilizing twins as controls for non-twin case-materials in genome wide association studies.
PLoS One. 2013;8(12):e83101 - PMID: 24340086 - PMCID: PMC3858365
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Sci Transl Med. 2013;5(183):183fs15, 1-3 - PMID: 23636091
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Genome-wide Association Study for Radiographic Vertebral Fractures: A Potential Role for the 16q24 BMD Locus versus Lessons Learned from Challenging Phenotype Definition.
Bone. 2013;:ePub - PMID: 24513584
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Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.
Nature. 2013;506(7486):97-101 - PMID: 24390345
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Transcriptome and genome sequencing uncovers functional variation in humans.
Nature. 2013;501(7468):506-11 - PMID: 24037378 - PMCID: PMC3918453
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Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese.
Schizophr Bull. 2013;:ePub - PMID: 24043878
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Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.
PLoS Genet. 2013;9(9):e1003723 - PMID: 24068945 - PMCID: PMC3772057
Guffanti G, Galea S, Yan L, Roberts AL, Solovieff N, Aiello AE, Smoller JW, De Vivo I, Ranu H, Uddin M, Wildman DE, Purcell S, Koenen KC
Genome-wide association study implicates a novel RNA gene, the lincRNA AC068718.1, as a risk factor for post-traumatic stress disorder in women.
Psychoneuroendocrinology. 2013;38(12):3029-38 - PMID: 24080187 - PMCID: PMC3844079
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Integrative annotation of variants from 1092 humans: application to cancer genomics.
Science. 2013;342(6154):1235587 - PMID: 24092746 - PMCID: PMC3947637
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Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Am J Hum Genet. 2013;93(4):607-19 - PMID: 24094742 - PMCID: PMC3791269
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, Feitosa MF, Ferreira T, Fischer K, Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkilä K, Hyppönen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikäinen LP, Magnusson PK, Mangino M, Mihailov E, Montasser ME, Müller-Nurasyid M, Nolte IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ, Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL, Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney AS, Döring A, Elliott P, Epstein SE, Eyjolfsson GI, Gigante B, Goodarzi MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL, Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones MR, Kaleebu P, Kastelein JJ, Khaw KT, Kim E, Klopp N, Komulainen P, Kumari M, Langenberg C, Lehtimäki T, Lin SY, Lindström J, Loos RJ, Mach F, McArdle WL, Meisinger C, Mitchell BD, Müller G, Nagaraja R, Narisu N, Nieminen TV, Nsubuga RN, Olafsson I, Ong KK, Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP, Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl H, Seeley J, Silander K, Stan?áková A, Stirrups K, Swift AJ, Tiret L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH, Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier M, Campbell H, Chakravarti A, Chambers JC, Chen YD, Collins FS, Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrières J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V, Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN, Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K, Iribarren C, Järvelin MR, Jula A, Kähönen M, Kaprio J, Kesäniemi A, Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J, Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, März W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L, Morris AD, Munroe PB, Njølstad I, Pedersen NL, Power C, Pramstaller PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D, Salomaa V, Sanghera DK, Saramies J, Schwarz PE, Sheu WH, Shuldiner AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO, Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P, Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BH, Altshuler D, Ordovas JM, Boerwinkle E, Palmer CN, Thorsteinsdottir U, Chasman DI, Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS, Boehnke M, Deloukas P, Mohlke KL, Ingelsson E, Abecasis GR, Daly MJ, Neale BM, Kathiresan S
Common variants associated with plasma triglycerides and risk for coronary artery disease.
Nat Genet. 2013;45(11):1345-52 - PMID: 24097064 - PMCID: PMC3904346
Derks EM, Ayub M, Chambert K, Del Favero J, Johnstone M, Macgregor S, Maclean A, McKechanie AG, McRae AF, Moran JL, Pickard BS, Purcell S, Sklar P, Stclair DM, Wray NR, Visscher PM, Blackwood DH
A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability.
Am J Med Genet B Neuropsychiatr Genet. 2013;162(8):847-54 - PMID: 24115684
Shaw SY, Tran K, Castoreno AB, Peloquin JM, Lassen KG, Khor B, Aldrich LN, Tan PH, Graham DB, Kuballa P, Goel G, Daly MJ, Shamji AF, Schreiber SL, Xavier RJ
Selective modulation of autophagy, innate immunity, and adaptive immunity by small molecules.
ACS Chem Biol. 2013;8(12):2724-33 - PMID: 24168452 - PMCID: PMC3951132
Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, Yang J, Lee SH, Evans P, Barr CL, Bellodi L, Benarroch F, Berrio GB, Bienvenu OJ, Bloch MH, Blom RM, Bruun RD, Budman CL, Camarena B, Campbell D, Cappi C, Cardona Silgado JC, Cath DC, Cavallini MC, Chavira DA, Chouinard S, Conti DV, Cook EH, Coric V, Cullen BA, Deforce D, Delorme R, Dion Y, Edlund CK, Egberts K, Falkai P, Fernandez TV, Gallagher PJ, Garrido H, Geller D, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Haddad S, Heiman GA, Hemmings SM, Hounie AG, Illmann C, Jankovic J, Jenike MA, Kennedy JL, King RA, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Macciardi F, McCracken JT, McGrath LM, Mesa Restrepo SC, Moessner R, Morgan J, Muller H, Murphy DL, Naarden AL, Ochoa WC, Ophoff RA, Osiecki L, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner TJ, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosàrio MC, Rosenberg D, Rouleau GA, Ruhrmann S, Ruiz-Linares A, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Valencia Duarte AV, Vallada H, Van Nieuwerburgh F, Veenstra-Vanderweele J, Walitza S, Wang Y, Wendland JR, Westenberg HG, Shugart YY, Miguel EC, McMahon W, Wagner M, Nicolini H, Posthuma D, Hanna GL, Heutink P, Denys D, Arnold PD, Oostra BA, Nestadt G, Freimer NB, Pauls DL, Wray NR, Stewart SE, Mathews CA, Knowles JA, Cox NJ, Scharf JM
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.
PLoS Genet. 2013;9(10):e1003864 - PMID: 24204291 - PMCID: PMC3812053
Pinto RM, Dragileva E, Kirby A, Lloret A, Lopez E, St Claire J, Panigrahi GB, Hou C, Holloway K, Gillis T, Guide JR, Cohen PE, Li GM, Pearson CE, Daly MJ, Wheeler VC
Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches.
PLoS Genet. 2013;9(10):e1003930 - PMID: 24204323 - PMCID: PMC3814320
Sharma A, Gaidamakova EK, Matrosova VY, Bennett B, Daly MJ, Hoffman BM
Responses of Mn2+ speciation in Deinococcus radiodurans and Escherichia coli to ?-radiation by advanced paramagnetic resonance methods.
Proc Natl Acad Sci U S A. 2013;110(15):5945-50 - PMID: 23536297 - PMCID: PMC3625348
Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, Gabriel S, Garimella K, Gross S, Hawes A, Lewis L, Makarov V, Maguire J, Newsham I, Poplin R, Ripke S, Shakir K, Samocha KE, Wu Y, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Schellenberg GD, Sutcliffe JS, Daly MJ, Gibbs RA, Roeder K
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
PLoS Genet. 2013;9(4):e1003443 - PMID: 23593035 - PMCID: PMC3623759
Giallourakis CC, Benita Y, Molinie B, Cao Z, Despo O, Pratt HE, Zukerberg LR, Daly MJ, Rioux JD, Xavier RJ
Genome-wide analysis of immune system genes by expressed sequence Tag profiling.
J Immunol. 2013;190(11):5578-87 - PMID: 23616578 - PMCID: PMC3703829
Ellinghaus D, Zhang H, Zeissig S, Lipinski S, Till A, Jiang T, Stade B, Bromberg Y, Ellinghaus E, Keller A, Rivas MA, Skieceviciene J, Doncheva NT, Liu X, Liu Q, Jiang F, Forster M, Mayr G, Albrecht M, Häsler R, Boehm BO, Goodall J, Berzuini CR, Lee J, Andersen V, Vogel U, Kupcinskas L, Kayser M, Krawczak M, Nikolaus S, Weersma RK, Ponsioen CY, Sans M, Wijmenga C, Strachan DP, McArdle WL, Vermeire S, Rutgeerts P, Sanderson JD, Mathew CG, Vatn MH, Wang J, Nöthen MM, Duerr RH, Büning C, Brand S, Glas J, Winkelmann J, Illig T, Latiano A, Annese V, Halfvarson J, D'Amato M, Daly MJ, Nothnagel M, Karlsen TH, Subramani S, Rosenstiel P, Schreiber S, Parkes M, Franke A
Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies.
Gastroenterology. 2013;145(2):339-47 - PMID: 23624108 - PMCID: PMC3753067
Hatoum IJ, Greenawalt DM, Cotsapas C, Daly MJ, Reitman ML, Kaplan LM
Weight loss after gastric bypass is associated with a variant at 15q26.1.
Am J Hum Genet. 2013;92(5):827-34 - PMID: 23643386 - PMCID: PMC3644642
Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
N Engl J Med. 2013;368(21):1992-2003 - PMID: 23656588 - PMCID: PMC3738065
Johnsen JM, Auer PL, Morrison AC, Jiao S, Wei P, Haessler J, Fox K, McGee SR, Smith JD, Carlson CS, Smith N, Boerwinkle E, Kooperberg C, Nickerson DA, Rich SS, Green D, Peters U, Cushman M, Reiner AP,
Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.
Blood. 2013;122(4):590-7 - PMID: 23690449 - PMCID: PMC3724194
Mechelli R, Umeton R, Policano C, Annibali V, Coarelli G, Ricigliano VA, Vittori D, Fornasiero A, Buscarinu MC, , , Romano S, Salvetti M, Ristori G
A "candidate-interactome" aggregate analysis of genome-wide association data in multiple sclerosis.
PLoS One. 2013;8(5):e63300 - PMID: 23696811 - PMCID: PMC3655974
Yang L, Neale BM, Liu L, Lee SH, Wray NR, Ji N, Li H, Qian Q, Wang D, Li J, Faraone SV, Wang Y, , Doyle AE, Reif A, Rothenberger A, Franke B, Sonuga-Barke EJ, Steinhausen HC, Buitelaar JK, Kuntsi J, Biederman J, Lesch KP, Kent L, Asherson P, Oades RD, Loo SK, Nelson SF, Faraone SV, Smalley SL, Banaschewski T, Arias Vasquez A, Todorov A, Charach A, Miranda A, Warnke A, Thapar A, Neale BM, Cormand B, Freitag C, Mick E, Mulas F, Middleton F, HakonarsonHakonarson H, Palmason H, Schäfer H, Roeyers H, McGough JJ, Romanos J, Crosbie J, Meyer J, Ramos-Quiroga JA, Sergeant J, Elia J, Langely K, Nisenbaum L, Romanos M, Daly MJ, Ribasés M, Gill M, O'Donovan M, Owen M, Casas M, Bayés M, Lambregts-Rommelse N, Williams N, Holmans P, Anney RJ, Ebstein RP, Schachar R, Medland SE, Ripke S, Walitza S, Nguyen TT, Renner TJ, Hu X
Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.
Am J Med Genet B Neuropsychiatr Genet. 2013;162B(5):419-30 - PMID: 23728934
Schafer CM, Campbell NG, Cai G, Yu F, Makarov V, Yoon S, Daly MJ, Gibbs RA, Schellenberg GD, Devlin B, Sutcliffe JS, Buxbaum JD, Roeder K
Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA.
Genomics. 2013;102(4):270-7 - PMID: 23743231 - PMCID: PMC3812417
Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U, McArdle WL, Quaye L, Koiranen M, Ikram MA, Lehtimäki T, Stam AH, Ligthart L, Wedenoja J, Dunham I, Neale BM, Palta P, Hamalainen E, Schürks M, Rose LM, Buring JE, Ridker PM, Steinberg S, Stefansson H, Jakobsson F, Lawlor DA, Evans DM, Ring SM, Färkkilä M, Artto V, Kaunisto MA, Freilinger T, Schoenen J, Frants RR, Pelzer N, Weller CM, Zielman R, Heath AC, Madden PA, Montgomery GW, Martin NG, Borck G, Göbel H, Heinze A, Heinze-Kuhn K, Williams FM, Hartikainen AL, Pouta A, van den Ende J, Uitterlinden AG, Hofman A, Amin N, Hottenga JJ, Vink JM, Heikkilä K, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann HE, Aromaa A, Eriksson JG, Traynor BJ, Trabzuni D, Rossin E, Lage K, Jacobs SB, Gibbs JR, Birney E, Kaprio J, Penninx BW, Boomsma DI, van Duijn C, Raitakari O, Jarvelin MR, Zwart JA, Cherkas L, Strachan DP, Kubisch C, Ferrari MD, van den Maagdenberg AM, Dichgans M, Wessman M, Smith GD, Stefansson K, Daly MJ, Nyholt DR, Chasman DI, Palotie A, , ,
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
Nat Genet. 2013;45(8):912-7 - PMID: 23793025 - PMCID: PMC4041123
Mannstadt M, Harris M, Bravenboer B, Chitturi S, Dreijerink KM, Lambright DG, Lim ET, Daly MJ, Gabriel S, Jüppner H
Germline mutations affecting G?11 in hypoparathyroidism.
N Engl J Med. 2013;368(26):2532-4 - PMID: 23802536 - PMCID: PMC3750735
O'Connor TD, Kiezun A, Bamshad M, Rich SS, Smith JD, Turner E, , , Leal SM, Akey JM
Fine-scale patterns of population stratification confound rare variant association tests.
PLoS One. 2013;8(7):e65834 - PMID: 23861739 - PMCID: PMC3701690
Kasippillai T, Macarthur DG, Kirby A, Thomas B, Lambalk CB, Daly MJ, Welt CK
Mutations in eIF4ENIF1 Are Associated With Primary Ovarian Insufficiency.
J Clin Endocrinol Metab. 2013;98(9):E1534-9 - PMID: 23902945
Stoll G, Pietiläinen OP, Linder B, Suvisaari J, Brosi C, Hennah W, Leppä V, Torniainen M, Ripatti S, Ala-Mello S, Plöttner O, Rehnström K, Tuulio-Henriksson A, Varilo T, Tallila J, Kristiansson K, Isohanni M, Kaprio J, Eriksson JG, Raitakari OT, Lehtimäki T, Jarvelin MR, Salomaa V, Hurles M, Stefansson H, Peltonen L, Sullivan PF, Paunio T, Lönnqvist J, Daly MJ, Fischer U, Freimer NB, Palotie A
Deletion of TOP3?, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders.
Nat Neurosci. 2013;16(9):1228-37 - PMID: 23912948 - PMCID: PMC3986889
Erovic BM, Daly MJ, Chan HH, James AL, Papsin BC, Pothier DD, Dixon B, Irish JC
Evaluation of intraoperative cone beam computed tomography and optical drill tracking in temporal bone surgery.
Laryngoscope. 2013;123(11):2823-8 - PMID: 23918182
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
Nat Genet. 2013;45(9):984-94 - PMID: 23933821 - PMCID: PMC3800159
He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K
Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.
PLoS Genet. 2013;9(8):e1003671 - PMID: 23966865 - PMCID: PMC3744441
Hamilton PJ, Campbell NG, Sharma S, Erreger K, Herborg Hansen F, Saunders C, Belovich AN, , Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli A
De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder.
Mol Psychiatry. 2013;18(12):1315-23 - PMID: 23979605 - PMCID: PMC4046646
Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, Gowrisankar S, Goldstein JI, Triebwasser M, Anderson HE, Zerbib J, Kavanagh D, Souied E, Katsanis N, Daly MJ, Atkinson JP, Raychaudhuri S
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nat Genet. 2013;45(11):1366-70 - PMID: 24036952 - PMCID: PMC3902040
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