Kosmicki JA, Samocha KE, Howrigan DP, Sanders SJ, Slowikowski K, Lek M, Karczewski KJ, Cutler DJ, Devlin B, Roeder K, Buxbaum JD, Neale BM, MacArthur DG, Wall DP, Robinson EB, Daly MJ
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Nat Genet. 2017;:ePub - PMID: 28191890
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nat Genet. 2017;:ePub - PMID: 28067909
Nicoletti P, Aithal GP, Bjornsson ES, Andrade RJ, Sawle A, Arrese M, Barnhart HX, Bondon-Guitton E, Hayashi PH, Bessone F, Carvajal A, Cascorbi I, Cirulli ET, Chalasani N, Conforti A, Coulthard SA, Daly MJ, Day CP, Dillon JF, Fontana RJ, Grove JI, Hallberg P, Hernández N, Ibáñez L, Kullak-Ublick GA, Laitinen T, Larrey D, Lucena MI, Maitland-van der Zee AH, Martin JH, Molokhia M, Pirmohamed M, Powell EE, Qin S, Serrano J, Stephens C, Stolz A, Wadelius M, Watkins PB, Floratos A, Shen Y, Nelson MR, Urban TJ, Daly AK, International DILI consortium (iDILIC), Drug-induced liver injury network (DILIN) investigators and International Serious Adverse Events Consortium (iSAEC)
Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-wide Association Study.
Gastroenterology. 2016;:ePub - PMID: 28043905
Yu Y, Wagner EK, Souied EH, Seitsonen S, Immonen IJ, Häppölä P, Raychaudhuri S, Daly MJ, Seddon JM
Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration.
Hum Mol Genet. 2016;:ePub - PMID: 28011711
Graham DB, Lefkovith A, Deelen P, de Klein N, Varma M, Boroughs A, Desch AN, Ng AC, Guzman G, Schenone M, Petersen CP, Bhan AK, Rivas MA, Daly MJ, Carr SA, Wijmenga C, Xavier RJ
TMEM258 Is a Component of the Oligosaccharyltransferase Complex Controlling ER Stress and Intestinal Inflammation.
Cell Rep. 2016;17(11):2955-2965 - PMID: 27974209
Johnson EC, Bjelland DW, Howrigan DP, Abdellaoui A, Breen G, Borglum A, Cichon S, Degenhardt F, Forstner AJ, Frank J, Genovese G, Heilmann-Heimbach S, Herms S, Hoffman P, Maier W, Mattheisen M, Morris D, Mowry B, Müller-Mhysok B, Neale B, Nenadic I, Nöthen MM, O'Dushlaine C, Rietschel M, Ruderfer DM, Rujescu D, Schulze TG, Simonson MA, Stahl E, Strohmaier J, Witt SH, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Sullivan PF, Keller MC
No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study.
PLoS Genet. 2016;12(10):e1006343 - PMID: 27792727 - PMCID: PMC5085024
Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki MI, Zekavat SM, Whelan CW, Kals M, Nivard MG, Bloemendal A, Bloom JM, Goldstein JI, Poterba T, Seed C, Handsaker RE, Natarajan P, Mägi R, Gage D, Robinson EB, Metspalu A, Salomaa V, Suvisaari J, Purcell SM, Sklar P, Kathiresan S, Daly MJ, McCarroll SA, Sullivan PF, Palotie A, Esko T, Hultman CM, Neale BM
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.
Nat Neurosci. 2016;19(12):1563-1565 - PMID: 27694993 - PMCID: PMC5127781
Zou J, Valiant G, Valiant P, Karczewski K, Chan SO, Samocha K, Lek M, Sunyaev S, Daly M, MacArthur DG
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.
Nat Commun. 2016;7:13293 - PMID: 27796292 - PMCID: PMC5095512
Francioli LC, Cretu-Stancu M, Garimella KV, Fromer M, Kloosterman WP, Samocha KE, Neale BM, Daly MJ, Banks E, DePristo MA, de Bakker PI, Genome of the Netherlands consortium
A framework for the detection of de novo mutations in family-based sequencing data.
Eur J Hum Genet. 2016;:ePub - PMID: 27876817
Karczewski KJ, Weisburd B, Thomas B, Solomonson M, Ruderfer DM, Kavanagh D, Hamamsy T, Lek M, Samocha KE, Cummings BB, Birnbaum D, The Exome Aggregation Consortium, Daly MJ, MacArthur DG
The ExAC browser: displaying reference data information from over 60 000 exomes.
Nucleic Acids Res. 2016;:ePub - PMID: 27899611
Gormley P, Anttila V, Winsvold BS, Palta P, Esko T, Pers TH, Farh KH, Cuenca-Leon E, Muona M, Furlotte NA, Kurth T, Ingason A, McMahon G, Ligthart L, Terwindt GM, Kallela M, Freilinger TM, Ran C, Gordon SG, Stam AH, Steinberg S, Borck G, Koiranen M, Quaye L, Adams HH, Lehtimäki T, Sarin AP, Wedenoja J, Hinds DA, Buring JE, Schürks M, Ridker PM, Hrafnsdottir MG, Stefansson H, Ring SM, Hottenga JJ, Penninx BW, Färkkilä M, Artto V, Kaunisto M, Vepsäläinen S, Malik R, Heath AC, Madden PA, Martin NG, Montgomery GW, Kurki MI, Kals M, Mägi R, Pärn K, Hämäläinen E, Huang H, Byrnes AE, Franke L, Huang J, Stergiakouli E, Lee PH, Sandor C, Webber C, Cader Z, Muller-Myhsok B, Schreiber S, Meitinger T, Eriksson JG, Salomaa V, Heikkilä K, Loehrer E, Uitterlinden AG, Hofman A, van Duijn CM, Cherkas L, Pedersen LM, Stubhaug A, Nielsen CS, Männikkö M, Mihailov E, Milani L, Göbel H, Esserlind AL, Christensen AF, Hansen TF, Werge T, International Headache Genetics Consortium, Kaprio J, Aromaa AJ, Raitakari O, Ikram MA, Spector T, Järvelin MR, Metspalu A, Kubisch C, Strachan DP, Ferrari MD, Belin AC, Dichgans M, Wessman M, van den Maagdenberg AM, Zwart JA, Boomsma DI, Smith GD, Stefansson K, Eriksson N, Daly MJ, Neale BM, Olesen J, Chasman DI, Nyholt DR, Palotie A
Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Nat Genet. 2016;48(10):1296 - PMID: 27681292
Peloquin JM, Goel G, Kong L, Huang H, Haritunians T, Sartor RB, Daly MJ, Newberry RD, McGovern DP, Yajnik V, Lira SA, Xavier RJ
Characterization of candidate genes in inflammatory bowel disease-associated risk loci.
JCI Insight. 2016;1(13):e87899 - PMID: 27668286
Vijai J, Topka S, Villano D, Ravichandran V, Maxwell KN, Maria A, Thomas T, Gaddam P, Lincoln A, Kazzaz S, Wenz B, Carmi S, Schrader KA, Hart SN, Lipkin SM, Neuhausen SL, Walsh MF, Zhang L, Lejbkowicz F, Rennert H, Stadler ZK, Robson M, Weitzel JN, Daly MJ, Couch FJ, Nathanson KL, Norton L, Rennert G, Offit K
A recurrent ERCC3 truncating mutation confers moderate risk for breast cancer.
Cancer Discov. 2016;:ePub - PMID: 27655433
Zheng J, Erzurumluoglu AM, Elsworth BL, Kemp JP, Howe L, Haycock PC, Hemani G, Tansey K, Laurin C, Early Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium, Pourcain BS, Warrington NM, Finucane HK, Price AL, Bulik-Sullivan BK, Anttila V, Paternoster L, Gaunt TR, Evans DM, Neale BM
LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis.
Bioinformatics. 2016;:ePub - PMID: 27663502
Middeldorp CM, Hammerschlag AR, Ouwens KG, Groen-Blokhuis MM, St Pourcain B, Greven CU, Pappa I, Tiesler CM, Ang W, Nolte IM, Vilor-Tejedor N, Bacelis J, Ebejer JL, Zhao H, Davies GE, Ehli EA, Evans DM, Fedko IO, Guxens M, Hottenga JJ, Hudziak JJ, Jugessur A, Kemp JP, Krapohl E, Martin NG, Murcia M, Myhre R, Ormel J, Ring SM, Standl M, Stergiakouli E, Stoltenberg C, Thiering E, Timpson NJ, Trzaskowski M, van der Most PJ, Wang C, EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortium, Psychiatric Genomics Consortium ADHD Working Group, Nyholt DR, Medland SE, Neale B, Jacobsson B, Sunyer J, Hartman CA, Whitehouse AJ, Pennell CE, Heinrich J, Plomin R, Davey Smith G, Tiemeier H, Posthuma D, Boomsma DI
A Genome-Wide Association Meta-Analysis of Attention-Deficit/Hyperactivity Disorder Symptoms in Population-Based Pediatric Cohorts.
J Am Acad Child Adolesc Psychiatry. 2016;55(10):896-905.e6 - PMID: 27663945
Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, International Mouse Phenotyping Consortium, Jackson Laboratory, Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS), Charles River Laboratories, MRC Harwell, Toronto Centre for Phenogenomics, Wellcome Trust Sanger Institute, RIKEN BioResource Center, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bućan M, Murray SA
High-throughput discovery of novel developmental phenotypes.
Nature. 2016;:ePub - PMID: 27626380
Rivas MA, Graham D, Sulem P, Stevens C, Desch AN, Goyette P, Gudbjartsson D, Jonsdottir I, Thorsteinsdottir U, Degenhardt F, Mucha S, Kurki MI, Li D, D'Amato M, Annese V, Vermeire S, Weersma RK, Halfvarson J, Paavola-Sakki P, Lappalainen M, Lek M, Cummings B, Tukiainen T, Haritunians T, Halme L, Koskinen LL, Ananthakrishnan AN, Luo Y, Heap GA, Visschedijk MC, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, MacArthur DG, Neale BM, Ahmad T, Anderson CA, Brant SR, Duerr RH, Silverberg MS, Cho JH, Palotie A, Saavalainen P, Kontula K, Färkkilä M, McGovern DP, Franke A, Stefansson K, Rioux JD, Xavier RJ, Daly MJ
Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
Nat Commun. 2016;7:12869 - PMID: 27619887
Wagner EK, Raychaudhuri S, Villalonga MB, Java A, Triebwasser MP, Daly MJ, Atkinson JP, Seddon JM
Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.
Sci Rep. 2016;6:31531 - PMID: 27572114
Ruderfer DM, Hamamsy T, Lek M, Karczewski KJ, Kavanagh D, Samocha KE, Exome Aggregation Consortium, Daly MJ, MacArthur DG, Fromer M, Purcell SM
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Nat Genet. 2016;:ePub - PMID: 27533299
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG, Exome Aggregation Consortium
Analysis of protein-coding genetic variation in 60,706 humans.
Nature. 2016;536(7616):285-91 - PMID: 27535533
Rivas MA, Graham D, Sulem P, Stevens C, Desch AN, Goyette P, Gudbjartsson D, Jonsdottir I, Thorsteinsdottir U, Degenhardt F, Mucha S, Kurki MI, Li D, D'Amato M, Annese V, Vermeire S, Weersma RK, Halfvarson J, Paavola-Sakki P, Lappalainen M, Lek M, Cummings B, Tukiainen T, Haritunians T, Halme L, Koskinen LL, Ananthakrishnan AN, Luo Y, Heap GA, Visschedijk MC, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, MacArthur DG, Neale BM, Ahmad T, Anderson CA, Brant SR, Duerr RH, Silverberg MS, Cho JH, Palotie A, Saavalainen P, Kontula K, Färkkilä M, McGovern DP, Franke A, Stefansson K, Rioux JD, Xavier RJ, Daly MJ, Barrett J, de Lane K, Edwards C, Hart A, Hawkey C, Jostins L, Kennedy N, Lamb C, Lee J, Lees C, Mansfield J, Mathew C, Mowatt C, Newman B, Nimmo E, Parkes M, Pollard M, Prescott N, Randall J, Rice D, Satsangi J, Simmons A, Tremelling M, Uhlig H, Wilson D, Abraham C, Achkar JP, Bitton A, Boucher G, Croitoru K, Fleshner P, Glas J, Kugathasan S, Limbergen JV, Milgrom R, Proctor D, Regueiro M, Schumm PL, Sharma Y, Stempak JM, Targan SR, Wang MH
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
Nat Commun. 2016;7:12342 - PMID: 27503255
Peloso GM, Lange LA, Varga TV, Nickerson DA, Smith JD, Griswold ME, Musani S, Polfus LM, Mei H, Gabriel S, Quarells RC, Altshuler D, Boerwinkle E, Daly MJ, Neale B, Correa A, Reiner AP, Wilson JG, Kathiresan S
Association of Exome Sequences with Cardiovascular Traits among African Americans in the Jackson Heart Study.
Circ Cardiovasc Genet. 2016;:ePub - PMID: 27422940
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The genetic architecture of type 2 diabetes.
Nature. 2016;:ePub - PMID: 27398621
Chuang LS, Villaverde N, Hui KY, Mortha A, Rahman A, Levine AP, Haritunians T, Ng SM, Zhang W, Hsu NY, Facey JA, Luong T, Fernandez-Hernandez H, Li D, Rivas M, Schiff ER, Gusev A, Schumm LP, Bowen BM, Sharma Y, Ning K, Remark R, Gnjatic S, Legnani P, George J, Sands BE, Stempak JM, Datta LW, Lipka S, Katz S, Cheifetz AS, Barzilai N, Pontikos N, Abraham C, Dubinsky MJ, Targan S, Taylor K, Rotter JI, Scherl EJ, Desnick RJ, Abreu MT, Zhao H, Atzmon G, Pe'er I, Kugathasan S, Hakonarson H, McCauley JL, Lencz T, Darvasi A, Plagnol V, Silverberg MS, Muise AM, Brant SR, Daly MJ, Segal AW, Duerr RH, Merad M, McGovern DP, Peter I, Cho JH
A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GMCSF.
Gastroenterology. 2016;:ePub - PMID: 27377463
Gormley P, Anttila V, Winsvold BS, Palta P, Esko T, Pers TH, Farh KH, Cuenca-Leon E, Muona M, Furlotte NA, Kurth T, Ingason A, McMahon G, Ligthart L, Terwindt GM, Kallela M, Freilinger TM, Ran C, Gordon SG, Stam AH, Steinberg S, Borck G, Koiranen M, Quaye L, Adams HH, Lehtimäki T, Sarin AP, Wedenoja J, Hinds DA, Buring JE, Schürks M, Ridker PM, Hrafnsdottir MG, Stefansson H, Ring SM, Hottenga JJ, Penninx BW, Färkkilä M, Artto V, Kaunisto M, Vepsäläinen S, Malik R, Heath AC, Madden PA, Martin NG, Montgomery GW, Kurki MI, Kals M, Mägi R, Pärn K, Hämäläinen E, Huang H, Byrnes AE, Franke L, Huang J, Stergiakouli E, Lee PH, Sandor C, Webber C, Cader Z, Muller-Myhsok B, Schreiber S, Meitinger T, Eriksson JG, Salomaa V, Heikkilä K, Loehrer E, Uitterlinden AG, Hofman A, van Duijn CM, Cherkas L, Pedersen LM, Stubhaug A, Nielsen CS, Männikkö M, Mihailov E, Milani L, Göbel H, Esserlind AL, Christensen AF, Hansen TF, Werge T, International Headache Genetics Consortium, Kaprio J, Aromaa AJ, Raitakari O, Ikram MA, Spector T, Järvelin MR, Metspalu A, Kubisch C, Strachan DP, Ferrari MD, Belin AC, Dichgans M, Wessman M, van den Maagdenberg AM, Zwart JA, Boomsma DI, Smith GD, Stefansson K, Eriksson N, Daly MJ, Neale BM, Olesen J, Chasman DI, Nyholt DR, Palotie A
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Nat Genet. 2016;:ePub - PMID: 27322543
Choi J, Shooshtari P, Samocha KE, Daly MJ, Cotsapas C
Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation.
PLoS Genet. 2016;12(6):e1006121 - PMID: 27305007
Lassen KG, McKenzie CI, Mari M, Murano T, Begun J, Baxt LA, Goel G, Villablanca EJ, Kuo SY, Huang H, Macia L, Bhan AK, Batten M, Daly MJ, Reggiori F, Mackay CR, Xavier RJ
Genetic Coding Variant in GPR65 Alters Lysosomal pH and Links Lysosomal Dysfunction with Colitis Risk.
Immunity. 2016;:ePub - PMID: 27287411
Kosmicki JA, Churchhouse CL, Rivas MA, Neale BM
Discovery of rare variants for complex phenotypes.
Hum Genet. 2016;:ePub - PMID: 27221085
Dordea AC, Vandenwijngaert S, Garcia V, Tainsh RE, Nathan DI, Allen K, Raher MJ, Tainsh LT, Zhang FF, Lieb WS, Mikelman S, Kirby A, Stevens C, Thoonen R, Hindle AG, Sips PY, Falck JR, Daly MJ, Brouckaert P, Bloch KD, Bloch DB, Malhotra R, Laniado Schwartzman M, Buys ES
ANDROGEN-SENSITIVE HYPERTENSION ASSOCIATED WITH SOLUBLE GUANYLATE CYCLASE ALPHA1 DEFICIENCY IS MEDIATED BY 20-HETE.
Am J Physiol Heart Circ Physiol. 2016;:ajpheart.00877.2015 - PMID: 27199131
Stein MB, Chen CY, Ursano RJ, Cai T, Gelernter J, Heeringa SG, Jain S, Jensen KP, Maihofer AX, Mitchell C, Nievergelt CM, Nock MK, Neale BM, Polimanti R, Ripke S, Sun X, Thomas ML, Wang Q, Ware EB, Borja S, Kessler RC, Smoller JW, Army Study to Assess Risk and Resilience in Servicemembers (STARRS) Collaborators
Genome-wide Association Studies of Posttraumatic Stress Disorder in 2 Cohorts of US Army Soldiers.
JAMA Psychiatry. 2016;:ePub - PMID: 27167565
Bodea CA, Neale BM, Ripke S, International IBD Genetics Consortium, Daly MJ, Devlin B, Roeder K
A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies.
Am J Hum Genet. 2016;:ePub - PMID: 27087321
de Leeuw CA, Neale BM, Heskes T, Posthuma D
The statistical properties of gene-set analysis.
Nat Rev Genet. 2016;:ePub - PMID: 27070863
Barrera LA, Vedenko A, Kurland JV, Rogers JM, Gisselbrecht SS, Rossin EJ, Woodard J, Mariani L, Kock KH, Inukai S, Siggers T, Shokri L, Gordân R, Sahni N, Cotsapas C, Hao T, Yi S, Kellis M, Daly MJ, Vidal M, Hill DE, Bulyk ML
Survey of variation in human transcription factors reveals prevalent DNA binding changes.
Science. 2016;351(6280):1450-4 - PMID: 27013732
Robinson EB, St Pourcain B, Anttila V, Kosmicki JA, Bulik-Sullivan B, Grove J, Maller J, Samocha KE, Sanders SJ, Ripke S, Martin J, Hollegaard MV, Werge T, Hougaard DM, iPSYCH-SSI-Broad Autism Group, Neale BM, Evans DM, Skuse D, Mortensen PB, Børglum AD, Ronald A, Smith GD, Daly MJ
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.
Nat Genet. 2016;:ePub - PMID: 26998691
Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietiläinen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Körkkö J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lönnqvist J, Männikkö M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, Clair DS, Veijola J, Walters JT, Williams H, Swedish Schizophrenia Study, INTERVAL Study, DDD Study, UK10 K Consortium, Sullivan PF, Hurles ME, O'Donovan MC, Palotie A, Owen MJ, Barrett JC
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Nat Neurosci. 2016;:ePub - PMID: 26974950
Yu H, Artomov M, Brähler S, Stander MC, Shamsan G, Sampson MG, White JM, Kretzler M, Miner JH, Jain S, Winkler CA, Mitra RD, Kopp JB, Daly MJ, Shaw AS
A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis.
J Clin Invest. 2016;:ePub - PMID: 26927868
Yu H, Artomov M, Brähler S, Stander MC, Shamsan G, Sampson MG, White JM, Kretzler M, Miner JH, Jain S, Winkler CA, Mitra RD, Kopp JB, Daly MJ, Shaw AS
A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis.
J Clin Invest. 2016;:ePub - PMID: 26901816
Franke B, Stein JL, Ripke S, Anttila V, Hibar DP, van Hulzen KJ, Arias-Vasquez A, Smoller JW, Nichols TE, Neale MC, McIntosh AM, Lee P, McMahon FJ, Meyer-Lindenberg A, Mattheisen M, Andreassen OA, Gruber O, Sachdev PS, Roiz-Santiañez R, Saykin AJ, Ehrlich S, Mather KA, Turner JA, Schwarz E, Thalamuthu A, Yao Y, Ho YY, Martin NG, Wright MJ, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Psychosis Endophenotypes International Consortium, Wellcome Trust Case Control Consortium 2, Enigma Consortium, O'Donovan MC, Thompson PM, Neale BM, Medland SE, Sullivan PF
Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept.
Nat Neurosci. 2016;:ePub - PMID: 26854805
Sekar A, Bialas AR, de Rivera H, Davis A, Hammond TR, Kamitaki N, Tooley K, Presumey J, Baum M, Van Doren V, Genovese G, Rose SA, Handsaker RE, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Daly MJ, Carroll MC, Stevens B, McCarroll SA
Schizophrenia risk from complex variation of complement component 4.
Nature. 2016;:ePub - PMID: 26814963
Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM, Exome Aggregation Consortium (ExAC), Daly MJ, MacArthur DG
Quantifying prion disease penetrance using large population control cohorts.
Sci Transl Med. 2016;8(322):322ra9 - PMID: 26791950
Gymrek M, Willems T, Guilmatre A, Zeng H, Markus B, Georgiev S, Daly MJ, Price AL, Pritchard JK, Sharp AJ, Erlich Y
Abundant contribution of short tandem repeats to gene expression variation in humans.
Nat Genet. 2015;:ePub - PMID: 26642241
Kryukov GV, Bielski C, Samocha K, Fromer M, Seepo S, Gentry C, Neale B, Garraway LA, Sweeney CJ, Taplin ME, Van Allen EM
Genetic effect of chemotherapy exposure in children of testicular cancer survivors.
Clin Cancer Res. 2015;:ePub - PMID: 26631610
Loh PR, Bhatia G, Gusev A, Finucane HK, Bulik-Sullivan BK, Pollack SJ, Schizophrenia Working Group of the Psychiatric Genomics Consortium, de Candia TR, Lee SH, Wray NR, Kendler KS, O'Donovan MC, Neale BM, Patterson N, Price AL
Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis.
Nat Genet. 2015;:ePub - PMID: 26523775
Song J, Bergen SE, Di Florio A, Karlsson R, Charney A, Ruderfer DM, Stahl EA, Members of the International Cohort Collection for Bipolar Disorder (ICCBD), Chambert KD, Moran JL, Gordon-Smith K, Forty L, Green EK, Jones I, Jones L, Scolnick EM, Sklar P, Smoller JW, Lichtenstein P, Hultman C, Craddock N, Landén M, Smoller JW, Perlis RH, Lee PH, Castro VM, Hoffnagle AG, Sklar P, Stahl EA, Purcell SM, Ruderfer DM, Charney AW, Roussos P, Michele Pato CP, Medeiros H, Sobel J, Craddock N, Jones I, Forty L, Florio AD, Green E, Jones L, Gordon-Smith K, Landen M, Hultman C, Jureus A, Bergen S, McCarroll S, Moran J, Smoller JW, Chambert K, Belliveau RA
Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder.
Mol Psychiatry. 2015;:ePub - PMID: 26503763
Cleynen I, Boucher G, Jostins L, Schumm LP, Zeissig S, Ahmad T, Andersen V, Andrews JM, Annese V, Brand S, Brant SR, Cho JH, Daly MJ, Dubinsky M, Duerr RH, Ferguson LR, Franke A, Gearry RB, Goyette P, Hakonarson H, Halfvarson J, Hov JR, Huang H, Kennedy NA, Kupcinskas L, Lawrance IC, Lee JC, Satsangi J, Schreiber S, Théâtre E, van der Meulen-de Jong AE, Weersma RK, Wilson DC, International Inflammatory Bowel Disease Genetics Consortium, Parkes M, Vermeire S, Rioux JD, Mansfield J, Silverberg MS, Radford-Smith G, McGovern DP, Barrett JC, Lees CW
Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.
Lancet. 2015;:ePub - PMID: 26490195
Cao Z, Conway KL, Heath RJ, Rush JS, Leshchiner ES, Ramirez-Ortiz ZG, Nedelsky NB, Huang H, Ng A, Gardet A, Cheng SC, Shamji AF, Rioux JD, Wijmenga C, Netea MG, Means TK, Daly MJ, Xavier RJ
Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation.
Immunity. 2015;43(4):715-726 - PMID: 26488816
Ware JS, Samocha KE, Homsy J, Daly MJ
Interpreting de novo Variation in Human Disease Using denovolyzeR.
Curr Protoc Hum Genet. 2015;87:7.25.1-7.25.15 - PMID: 26439716
Vilhjálmsson BJ, Yang J, Finucane HK, Gusev A, Lindström S, Ripke S, Genovese G, Loh PR, Bhatia G, Do R, Hayeck T, Won HH, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) study, Kathiresan S, Pato M, Pato C, Tamimi R, Stahl E, Zaitlen N, Pasaniuc B, Belbin G, Kenny EE, Schierup MH, De Jager P, Patsopoulos NA, McCarroll S, Daly M, Purcell S, Chasman D, Neale B, Goddard M, Visscher PM, Kraft P, Patterson N, Price AL, Discovery Biology and Risk of Inherited Variants in Breast Cancer DRIVE study
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.
Am J Hum Genet. 2015;97(4):576-92 - PMID: 26430803
Bulik-Sullivan B, Finucane HK, Anttila V, Gusev A, Day FR, Loh PR, ReproGen Consortium; Psychiatric Genomics Consortium; Genetic Consortium for Anorexia Nervosa of the Wellcome Trust Case Control Consortium, Duncan L, Perry JR, Patterson N, Robinson EB, Daly MJ, Price AL, Neale BM
An atlas of genetic correlations across human diseases and traits.
Nat Genet. 2015;:ePub - PMID: 26414676
Day FR, Ruth KS, Thompson DJ, Lunetta KL, Pervjakova N, Chasman DI, Stolk L, Finucane HK, Sulem P, Bulik-Sullivan B, Esko T, Johnson AD, Elks CE, Franceschini N, He C, Altmaier E, Brody JA, Franke LL, Huffman JE, Keller MF, McArdle PF, Nutile T, Porcu E, Robino A, Rose LM, Schick UM, Smith JA, Teumer A, Traglia M, Vuckovic D, Yao J, Zhao W, Albrecht E, Amin N, Corre T, Hottenga JJ, Mangino M, Smith AV, Tanaka T, Abecasis GR, Andrulis IL, Anton-Culver H, Antoniou AC, Arndt V, Arnold AM, Barbieri C, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernstein L, Bielinski SJ, Blomqvist C, Boerwinkle E, Bogdanova NV, Bojesen SE, Bolla MK, Borresen-Dale AL, Boutin TS, Brauch H, Brenner H, Brüning T, Burwinkel B, Campbell A, Campbell H, Chanock SJ, Chapman JR, Chen YI, Chenevix-Trench G, Couch FJ, Coviello AD, Cox A, Czene K, Darabi H, De Vivo I, Demerath EW, Dennis J, Devilee P, Dörk T, Dos-Santos-Silva I, Dunning AM, Eicher JD, Fasching PA, Faul JD, Figueroa J, Flesch-Janys D, Gandin I, Garcia ME, García-Closas M, Giles GG, Girotto GG, Goldberg MS, González-Neira A, Goodarzi MO, Grove ML, Gudbjartsson DF, Guénel P, Guo X, Haiman CA, Hall P, Hamann U, Henderson BE, Hocking LJ, Hofman A, Homuth G, Hooning MJ, Hopper JL, Hu FB, Huang J, Humphreys K, Hunter DJ, Jakubowska A, Jones SE, Kabisch M, Karasik D, Knight JA, Kolcic I, Kooperberg C, Kosma VM, Kriebel J, Kristensen V, Lambrechts D, Langenberg C, Li J, Li X, Lindström S, Liu Y, Luan J, Lubinski J, Mägi R, Mannermaa A, Manz J, Margolin S, Marten J, Martin NG, Masciullo C, Meindl A, Michailidou K, Mihailov E, Milani L, Milne RL, Müller-Nurasyid M, Nalls M, Neale BM, Nevanlinna H, Neven P, Newman AB, Nordestgaard BG, Olson JE, Padmanabhan S, Peterlongo P, Peters U, Petersmann A, Peto J, Pharoah PD, Pirastu NN, Pirie A, Pistis G, Polasek O, Porteous D, Psaty BM, Pylkäs K, Radice P, Raffel LJ, Rivadeneira F, Rudan I, Rudolph A, Ruggiero D, Sala CF, Sanna S, Sawyer EJ, Schlessinger D, Schmidt MK, Schmidt F, Schmutzler RK, Schoemaker MJ, Scott RA, Seynaeve CM, Simard J, Sorice R, Southey MC, Stöckl D, Strauch K, Swerdlow A, Taylor KD, Thorsteinsdottir U, Toland AE, Tomlinson I, Truong T, Tryggvadottir L, Turner ST, Vozzi D, Wang Q, Wellons M, Willemsen G, Wilson JF, Winqvist R, Wolffenbuttel BB, Wright AF, Yannoukakos D, Zemunik T, Zheng W, Zygmunt M, Bergmann S, Boomsma DI, Buring JE, Ferrucci L, Montgomery GW, Gudnason V, Spector TD, van Duijn CM, Alizadeh BZ, Ciullo M, Crisponi L, Easton DF, Gasparini PP, Gieger C, Harris TB, Hayward C, Kardia SL, Kraft P, McKnight B, Metspalu A, Morrison AC, Reiner AP, Ridker PM, Rotter JI, Toniolo D, Uitterlinden AG, Ulivi S, Völzke H, Wareham NJ, Weir DR, Yerges-Armstrong LM, PRACTICAL Consortium; kConFab Investigators; AOCS Investigators; Generation Scotland; EPIC-InterAct Consortium; LifeLines Cohort Study, Price AL, Stefansson K, Visser JA, Ong KK, Chang-Claude J, Murabito JM, Perry JR, Murray A
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
Nat Genet. 2015;:ePub - PMID: 26414677
Finucane HK, Bulik-Sullivan B, Gusev A, Trynka G, Reshef Y, Loh PR, Anttila V, Xu H, Zang C, Farh K, Ripke S, Day FR, ReproGen Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; RACI Consortium, Purcell S, Stahl E, Lindstrom S, Perry JR, Okada Y, Raychaudhuri S, Daly MJ, Patterson N, Neale BM, Price AL
Partitioning heritability by functional annotation using genome-wide association summary statistics.
Nat Genet. 2015;:ePub - PMID: 26414678
Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW, , Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Neuron. 2015;87(6):1215-1233 - PMID: 26402605
Robinson EB, Neale BM, Hyman SE
Genetic research in autism spectrum disorders.
Curr Opin Pediatr. 2015;:ePub - PMID: 26371945
Ganna A, Ingelsson E
5 year mortality predictors in 498,103 UK Biobank participants: a prospective population-based study.
Lancet. 2015;386(9993):533-40 - PMID: 26049253
Peloso GM, Rader DJ, Gabriel S, Kathiresan S, Daly MJ, Neale BM
Phenotypic extremes in rare variant study designs.
Eur J Hum Genet. 2015;:ePub - PMID: 26350511
Russo M, Mahon K, Shanahan M, Ramjas E, Solon C, Purcell SM, Burdick KE
The relationship between sleep quality and neurocognition in bipolar disorder.
J Affect Disord. 2015;187:156-162 - PMID: 26339925
Lee SH, Byrne EM, Hultman CM, Kähler A, Vinkhuyzen AA, Ripke S, Andreassen OA, Frisell T, Gusev A, Hu X, Karlsson R, Mantzioris VX, McGrath JJ, Mehta D, Stahl EA, Zhao Q, Kendler KS, Sullivan PF, Price AL, O'Donovan M, Okada Y, Mowry BJ, Raychaudhuri S, Wray NR, , , Byerley W, Cahn W, Cantor RM, Cichon S, Cormican P, Curtis D, Djurovic S, Escott-Price V, Gejman PV, Georgieva L, Giegling I, Hansen TF, Ingason A, Kim Y, Konte B, Lee PH, McIntosh A, McQuillin A, Morris DW, Nöthen MM, O'Dushlaine C, Olincy A, Olsen L, Pato CN, Pato MT, Pickard BS, Posthuma D, Rasmussen HB, Rietschel M, Rujescu D, Schulze TG, Silverman JM, Thirumalai S, Werge T, , Agartz I, Amin F, Azevedo MH, Bass N, Black DW, Blackwood DH, Bruggeman R, Buccola NG, Choudhury K, Cloninger RC, Corvin A, Craddock N, Daly MJ, Datta S, Donohoe GJ, Duan J, Dudbridge F, Fanous A, Freedman R, Freimer NB, Friedl M, Gill M, Gurling H, De Haan L, Hamshere ML, Hartmann AM, Holmans PA, Kahn RS, Keller MC, Kenny E, Kirov GK, Krabbendam L, Krasucki R, Lawrence J, Lencz T, Levinson DF, Lieberman JA, Lin DY, Linszen DH, Magnusson PK, Maier W, Malhotra AK, Mattheisen M, Mattingsdal M, McCarroll SA, Medeiros H, Melle I, Milanova V, Myin-Germeys I, Neale BM, Ophoff RA, Owen MJ, Pimm J, Purcell SM, Puri V, Quested DJ, Rossin L, Ruderfer D, Sanders AR, Shi J, Sklar P, St Clair D, Scott Stroup T, Van Os J, Visscher PM, Wiersma D, Zammit S, , Louis Bridges S, Choi HK, Coenen MJ, de Vries N, Dieud P, Greenberg JD, Huizinga TW, Padyukov L, Siminovitch KA, Tak PP, Worthington J, , De Jager PL, Denny JC, Gregersen PK, Klareskog L, Mariette X, Plenge RM, van Laar M, van Riel P
New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis.
Int J Epidemiol. 2015;:ePub - PMID: 26286434
Stergiakouli E, Martin J, Hamshere ML, Langley K, Evans DM, St Pourcain B, Timpson NJ, Owen MJ, O'Donovan M, Thapar A, Davey Smith G
Shared genetic influences between attention-deficit/hyperactivity disorder (ADHD) traits in children and clinical ADHD.
J Am Acad Child Adolesc Psychiatry. 2015;54(4):322-7 - PMID: 25791149 - PMCID: PMC4382052
Martin J, O'Donovan MC, Thapar A, Langley K, Williams N
The relative contribution of common and rare genetic variants to ADHD.
Transl Psychiatry. 2015;5:e506 - PMID: 25668434 - PMCID: PMC4445754
Bulik-Sullivan BK, Loh PR, Finucane HK, Ripke S, Yang J, , Patterson N, Daly MJ, Price AL, Neale BM
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies.
Nat Genet. 2015;47(3):291-5 - PMID: 25642630 - PMCID: PMC4495769
Loh PR, Tucker G, Bulik-Sullivan BK, Vilhjálmsson BJ, Finucane HK, Salem RM, Chasman DI, Ridker PM, Neale BM, Berger B, Patterson N, Price AL
Efficient Bayesian mixed-model analysis increases association power in large cohorts.
Nat Genet. 2015;47(3):284-90 - PMID: 25642633 - PMCID: PMC4342297
Meyer WK, Venkat A, Kermany AR, van de Geijn B, Zhang S, Przeworski M
Evolutionary history inferred from the de novo assembly of a non-model organism, the blue-eyed black lemur.
Mol Ecol. 2015;:ePub - PMID: 26198179
Knowles JW, Xie W, Zhang Z, Chennemsetty I, Assimes TL, Paananen J, Hansson O, Pankow J, Goodarzi MO, Carcamo-Orive I, Morris AP, Chen YD, Mäkinen VP, Ganna A, Mahajan A, Guo X, Abbasi F, Greenawalt DM, Lum P, Molony C, Lind L, Lindgren C, Raffel LJ, Tsao PS, , , , , Schadt EE, Rotter JI, Sinaiko A, Reaven G, Yang X, Hsiung CA, Groop L, Cordell HJ, Laakso M, Hao K, Ingelsson E, Frayling TM, Weedon MN, Walker M, Quertermous T
Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene.
J Clin Invest. 2015;125(4):1739-51 - PMID: 25798622 - PMCID: PMC4409020
Nettleton JA, Follis JL, Ngwa JS, Smith CE, Ahmad S, Tanaka T, Wojczynski MK, Voortman T, Lemaitre RN, Kristiansson K, Nuotio ML, Houston DK, Perälä MM, Qi Q, Sonestedt E, Manichaikul A, Kanoni S, Ganna A, Mikkilä V, North KE, Siscovick DS, Harald K, Mckeown NM, Johansson I, Rissanen H, Liu Y, Lahti J, Hu FB, Bandinelli S, Rukh G, Rich S, Booij L, Dmitriou M, Ax E, Raitakari O, Mukamal K, Männistö S, Hallmans G, Jula A, Ericson U, Jacobs DR, Van Rooij FJ, Deloukas P, Sjögren P, Kähönen M, Djousse L, Perola M, Barroso I, Hofman A, Stirrups K, Viikari J, Uitterlinden AG, Kalafati IP, Franco OH, Mozaffarian D, Salomaa V, Borecki IB, Knekt P, Kritchevsky SB, Eriksson JG, Dedoussis GV, Qi L, Ferrucci L, Orho-Melander M, Zillikens MC, Ingelsson E, Lehtimäki T, Renström F, Cupples LA, Loos RJ, Franks PW
Gene × dietary pattern interactions in obesity: analysis of up to 68 317 adults of European ancestry.
Hum Mol Genet. 2015;24(16):4728-38 - PMID: 25994509 - PMCID: PMC4512626
Shungin D, Cornelis MC, Divaris K, Holtfreter B, Shaffer JR, Yu YH, Barros SP, Beck JD, Biffar R, Boerwinkle EA, Crout RJ, Ganna A, Hallmans G, Hindy G, Hu FB, Kraft P, McNeil DW, Melander O, Moss KL, North KE, Orho-Melander M, Pedersen NL, Ridker PM, Rimm EB, Rose LM, Rukh G, Teumer A, Weyant RJ, Chasman DI, Joshipura K, Kocher T, Magnusson PK, Marazita ML, Nilsson P, Offenbacher S, Davey Smith G, Lundberg P, Palmer TM, Timpson NJ, Johansson I, Franks PW
Using genetics to test the causal relationship of total adiposity and periodontitis: Mendelian randomization analyses in the Gene-Lifestyle Interactions and Dental Endpoints (GLIDE) Consortium.
Int J Epidemiol. 2015;44(2):638-50 - PMID: 26050256
Campbell W, Ganna A, Ingelsson E, Janssens AC
Prediction impact curve is a new measure integrating intervention effects in the evaluation of risk models.
J Clin Epidemiol. 2015;:ePub - PMID: 26119889
Campbell W, Ganna A, Ingelsson E, Janssens AC
Prediction impact curve is a new measure integrating intervention effects in the evaluation of risk models.
J Clin Epidemiol. 2015;:ePub - PMID: 26119889
Rees E, Kirov G, Walters JT, Richards AL, Howrigan D, Kavanagh DH, Pocklington AJ, Fromer M, Ruderfer DM, Georgieva L, Carrera N, Gormley P, Palta P, Williams H, Dwyer S, Johnson JS, Roussos P, Barker DD, Banks E, Milanova V, Rose SA, Chambert K, Mahajan M, Scolnick EM, Moran JL, Tsuang MT, Glatt SJ, Chen WJ, Hwu HG, , Neale BM, Palotie A, Sklar P, Purcell SM, McCarroll SA, Holmans P, Owen MJ, O'Donovan MC
Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.
Transl Psychiatry. 2015;5:e607 - PMID: 26196440
Liu JZ, van Sommeren S, Huang H, Ng SC, Alberts R, Takahashi A, Ripke S, Lee JC, Jostins L, Shah T, Abedian S, Cheon JH, Cho J, Daryani NE, Franke L, Fuyuno Y, Hart A, Juyal RC, Juyal G, Kim WH, Morris AP, Poustchi H, Newman WG, Midha V, Orchard TR, Vahedi H, Sood A, Sung JJ, Malekzadeh R, Westra HJ, Yamazaki K, Yang SK, , , Barrett JC, Franke A, Alizadeh BZ, Parkes M, B K T, Daly MJ, Kubo M, Anderson CA, Weersma RK
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Nat Genet. 2015;:ePub - PMID: 26192919
Begun J, Lassen KG, Jijon HB, Baxt LA, Goel G, Heath RJ, Ng A, Tam JM, Kuo SY, Villablanca EJ, Fagbami L, Oosting M, Kumar V, Schenone M, Carr SA, Joosten LA, Vyas JM, Daly MJ, Netea MG, Brown GD, Wijmenga C, Xavier RJ
Integrated Genomics of Crohn's Disease Risk Variant Identifies a Role for CLEC12A in Antibacterial Autophagy.
Cell Rep. 2015;:ePub - PMID: 26095365
Baran Y, Subramaniam M, Biton A, Tukiainen T, Tsang EK, Rivas MA, Pirinen M, Gutierrez-Arcelus M, Smith KS, Kukurba KR, Zhang R, Eng C, Torgerson DG, Urbanek C, , Li JB, Rodriguez-Santana JR, Burchard EG, Seibold MA, MacArthur DG, Montgomery SB, Zaitlen NA, Lappalainen T
The landscape of genomic imprinting across diverse adult human tissues.
Genome Res. 2015;:ePub - PMID: 25953952
Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J, , , Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG
Effect of predicted protein-truncating genetic variants on the human transcriptome.
Science. 2015;348(6235):666-9 - PMID: 25954003
Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA, , van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A,
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Am J Hum Genet. 2015;:ePub - PMID: 25937446
Basak A, Hancarova M, Ulirsch JC, Balci TB, Trkova M, Pelisek M, Vlckova M, Muzikova K, Cermak J, Trka J, Dyment DA, Orkin SH, Daly MJ, Sedlacek Z, Sankaran VG
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.
J Clin Invest. 2015;:ePub - PMID: 25938782
Heinzen EL, Neale BM, Traynelis SF, Allen AS, Goldstein DB
The Genetics of Neuropsychiatric Diseases: Looking In and Beyond the Exome.
Annu Rev Neurosci. 2015;:ePub - PMID: 25840007
Kavanagh D, Yu Y, Schramm EC, Triebwasser M, Wagner E, Raychaudhuri S, Daly MJ, Atkinson JP, Seddon JM
Rare Genetic Variants in the CFI Gene are Associated with Advanced Age-Related Macular Degeneration and Commonly Result in Reduced Serum Factor I Levels.
Hum Mol Genet. 2015;:ePub - PMID: 25788521
Daly MJ
2014 curt stern award: a tryst with genetics.
Am J Hum Genet. 2015;96(3):369-71 - PMID: 25748355
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Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.
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Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
J Clin Invest. 2014;:ePub - PMID: 25250574
Groen-Blokhuis MM, Middeldorp CM, Kan KJ, Abdellaoui A, van Beijsterveldt CE, Ehli EA, Davies GE, Scheet PA, Xiao X, Hudziak JJ, Hottenga JJ, , Neale BM, Boomsma DI
Attention-deficit/hyperactivity disorder polygenic risk scores predict attention problems in a population-based sample of children.
J Am Acad Child Adolesc Psychiatry. 2014;53(10):1123-1129.e6 - PMID: 25245356
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, Malhotra AK, Nielsen J, Pirmohamed M, Rujescu D, Werge T, Levy DL, Josiassen RC, Kennedy JL, Lieberman JA, Daly MJ, Sullivan PF
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
Nat Commun. 2014;5:4757 - PMID: 25187353
Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, Illmann C, McGrath LM, Mayerfeld C, Arepalli S, Barlassina C, Barr CL, Bellodi L, Benarroch F, Berrió GB, Bienvenu OJ, Black DW, Bloch MH, Brentani H, Bruun RD, Budman CL, Camarena B, Campbell DD, Cappi C, Silgado JC, Cavallini MC, Chavira DA, Chouinard S, Cook EH, Cookson MR, Coric V, Cullen B, Cusi D, Delorme R, Denys D, Dion Y, Eapen V, Egberts K, Falkai P, Fernandez T, Fournier E, Garrido H, Geller D, Gilbert D, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Hardy J, Heiman GA, Hemmings SM, Herrera LD, Hezel DM, Hoekstra PJ, Jankovic J, Kennedy JL, King RA, Konkashbaev AI, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Lupoli S, Macciardi F, Maier W, Manunta P, Marconi M, McCracken JT, Mesa Restrepo SC, Moessner R, Moorjani P, Morgan J, Muller H, Murphy DL, Naarden AL, Nurmi E, Ochoa WC, Ophoff RA, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner T, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosário MC, Rosenberg D, Ruhrmann S, Sabatti C, Salvi E, Sampaio AS, Samuels J, Sandor P, Service SK, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Turiel M, Valencia Duarte AV, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Weale M, Weiss R, Wendland JR, Westenberg HG, Shugart YY, Hounie AG, Miguel EC, Nicolini H, Wagner M, Ruiz-Linares A, Cath DC, McMahon W, Posthuma D, Oostra BA, Nestadt G, Rouleau GA, Purcell S, Jenike MA, Heutink P, Hanna GL, Conti DV, Arnold PD, Freimer NB, Stewart SE, Knowles JA, Cox NJ, Pauls DL
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
Am J Psychiatry. 2014;:ePub - PMID: 25158072
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, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Neale BM, Daly MJ
A framework for the interpretation of de novo mutation in human disease.
Nat Genet. 2014;:ePub - PMID: 25086666
Winkler TW, Day FR, Croteau-Chonka DC, Wood AR, Locke AE, Mägi R, Ferreira T, Fall T, Graff M, Justice AE, Luan J, Gustafsson S, Randall JC, Vedantam S, Workalemahu T, Kilpeläinen TO, Scherag A, Esko T, Kutalik Z, Heid IM, Loos RJ,
Quality control and conduct of genome-wide association meta-analyses.
Nat Protoc. 2014;9(5):1192-212 - PMID: 24762786 - PMCID: PMC4083217
Kreiner-Møller E, Medina-Gomez C, Uitterlinden AG, Rivadeneira F, Estrada K
Improving accuracy of rare variant imputation with a two-step imputation approach.
Eur J Hum Genet. 2014;:ePub - PMID: 24939589
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, Maksimow M, Salmi M, Blankenberg S, Ardissino D, Shah S, Horne B, McPherson R, Hovingh GK, Reilly MP, Watkins H, Goel A, Farrall M, Girelli D, Reiner AP, Stitziel NO, Kathiresan S, Gabriel S, Barrett JC, Lehtimäki T, Laakso M, Groop L, Kaprio J, Perola M, McCarthy MI, Boehnke M, Altshuler DM, Lindgren CM, Hirschhorn JN, Metspalu A, Freimer NB, Zeller T, Jalkanen S, Koskinen S, Raitakari O, Durbin R, MacArthur DG, Salomaa V, Ripatti S, Daly MJ, Palotie A,
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.
PLoS Genet. 2014;10(7):e1004494 - PMID: 25078778
McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlaine C, Kirby A, Illmann C, Haddad S, Gallagher P, Fagerness JA, Barr CL, Bellodi L, Benarroch F, Bienvenu OJ, Black DW, Bloch MH, Bruun RD, Budman CL, Camarena B, Cath DC, Cavallini MC, Chouinard S, Coric V, Cullen B, Delorme R, Denys D, Derks EM, Dion Y, Rosário MC, Eapen V, Evans P, Falkai P, Fernandez TV, Garrido H, Geller D, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Heiman GA, Hemmings SM, Herrera LD, Hounie AG, Jankovic J, Kennedy JL, King RA, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Lochner C, Lowe TL, Lyon GJ, Macciardi F, Maier W, McCracken JT, McMahon W, Murphy DL, Naarden AL, Neale BM, Nurmi E, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Reus VI, Richter MA, Riddle M, Robertson MM, Rosenberg D, Rouleau GA, Ruhrmann S, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Tischfield JA, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR, Shugart YY, Miguel EC, Nicolini H, Oostra BA, Moessner R, Wagner M, Ruiz-Linares A, Heutink P, Nestadt G, Freimer N, Petryshen T, Posthuma D, Jenike MA, Cox NJ, Hanna GL, Brentani H, Scherer SW, Arnold PD, Stewart SE, Mathews CA, Knowles JA, Cook EH, Pauls DL, Wang K, Scharf JM
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.
J Am Acad Child Adolesc Psychiatry. 2014;53(8):910-9 - PMID: 25062598
Georgieva L, Rees E, Moran JL, Chambert KD, Milanova V, Craddock N, Purcell S, Sklar P, McCarroll S, Holmans P, O'Donovan MC, Owen MJ, Kirov G
De novo CNVs in Bipolar Affective Disorder and Schizophrenia.
Hum Mol Genet. 2014;:ePub - PMID: 25055870
Guffanti G, Ashley-Koch AE, Roberts AL, Garrett ME, Solovieff N, Ratanatharathorn A, De Vivo I, Dennis M, Ranu H, Smoller JW, Liu Y, Purcell SM, , Beckham J, Hauser MA, Koenen KC
No association between RORA polymorphisms and PTSD in two independent samples.
Mol Psychiatry. 2014;:ePub - PMID: 25048002
Kemp JP, Medina-Gomez C, Estrada K, St Pourcain B, Heppe DH, Warrington NM, Oei L, Ring SM, Kruithof CJ, Timpson NJ, Wolber LE, Reppe S, Gautvik K, Grundberg E, Ge B, van der Eerden B, van de Peppel J, Hibbs MA, Ackert-Bicknell CL, Choi K, Koller DL, Econs MJ, Williams FM, Foroud T, Zillikens MC, Ohlsson C, Hofman A, Uitterlinden AG, Davey Smith G, Jaddoe VW, Tobias JH, Rivadeneira F, Evans DM
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel Loci in the genetic regulation of bone mass attainment.
PLoS Genet. 2014;10(6):e1004423 - PMID: 24945404 - PMCID: PMC4063697
Francioli LC, Menelaou A, Pulit SL, van Dijk F, Palamara PF, Elbers CC, Neerincx PB, Ye K, Guryev V, Kloosterman WP, Deelen P, Abdellaoui A, van Leeuwen EM, van Oven M, Vermaat M, Li M, Laros JF, Karssen LC, Kanterakis A, Amin N, Hottenga JJ, Lameijer EW, Kattenberg M, Dijkstra M, Byelas H, van Setten J, van Schaik BD, Bot J, Nijman IJ, Renkens I, Marschall T, Schönhuth A, Hehir-Kwa JY, Handsaker RE, Polak P, Sohail M, Vuzman D, Hormozdiari F, van Enckevort D, Mei H, Koval V, Moed MH, van der Velde KJ, Rivadeneira F, Estrada K, Medina-Gomez C, Isaacs A, McCarroll SA, Beekman M, de Craen AJ, Suchiman HE, Hofman A, Oostra B, Uitterlinden AG, Willemsen G, Study LC, Platteel M, Veldink JH, van den Berg LH, Pitts SJ, Potluri S, Sundar P, Cox DR, Sunyaev SR, Dunnen JT, Stoneking M, de Knijff P, Kayser M, Li Q, Li Y, Du Y, Chen R, Cao H, Li N, Cao S, Wang J, Bovenberg JA, Pe'er I, Slagboom PE, van Duijn CM, Boomsma DI, van Ommen GJ, de Bakker PI, Swertz MA, Wijmenga C.
Whole-genome sequence variation, population structure and demographic history of the Dutch population.
Nat Genet. 2014;:ePub - PMID: 24974849
Moreno-Estrada A, Gignoux CR, Fernández-López JC, Zakharia F, Sikora M, Contreras AV, Acuña-Alonzo V, Sandoval K, Eng C, Romero-Hidalgo S, Ortiz-Tello P, Robles V, Kenny EE, Nuño-Arana I, Barquera-Lozano R, Macín-Pérez G, Granados-Arriola J, Huntsman S, Galanter JM, Via M, Ford JG, Chapela R, Rodriguez-Cintron W, Rodríguez-Santana JR, Romieu I, Sienra-Monge JJ, del Rio Navarro B, London SJ, Ruiz-Linares A, Garcia-Herrera R, Estrada K, Hidalgo-Miranda A, Jimenez-Sanchez G, Carnevale A, Soberón X, Canizales-Quinteros S, Rangel-Villalobos H, Silva-Zolezzi I, Burchard EG, Bustamante CD
Human genetics. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits.
Science. 2014;344(6189):1280-5 - PMID: 24926019
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, Nolte IM, Smith AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D, Lyytikäinen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M, Morris RW, Naluai AT, Padmanabhan S, Kluttig A, Strohmer B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K, Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J, , , Smith JG, Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polašek O, Wright AF, Griffin M, Daly MJ, , Arnar DO, Hólm H, Thorsteinsdottir U, , Denny JC, Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A, Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L, Perola M, Porthan K, Erbel R, Hoffmann P, Jöckel KH, Kälsch H, Nöthen MM, , den Hoed M, Loos RJ, Thelle DS, Gieger C, Meitinger T, Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA, Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A, Hofman N, Wilde AA, Behr ER, Dalageorgou C, Giudicessi JR, Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A, Insolia R, Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, Fabiola , Fuchsberger C, O'Connell JR, Lee WK, Watt GC, Campbell H, Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Leach IM, Navis G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JC, Kedenko L, Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orrú M, Schlessinger D, Uda M, Markus MR, Völker U, Snieder H, Spector TD, Arnlöv J, Lind L, Sundström J, Syvänen AC, Kivimaki M, Kähönen M, Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M, Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F, Whincup PH, Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E, Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Mühleisen TW, Pramstaller PP, Lehtimäki TJ, Paterson AD, Parsa A, Liu Y, van Duijn CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA, Cappola TP, Olsen JV, Lage K, Schwartz PJ, Kääb S, Chakravarti A, Ackerman MJ, Pfeufer A, de Bakker PI, Newton-Cheh C
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Nat Genet. 2014;:ePub - PMID: 24952745
Lundby A, Rossin EJ, Steffensen AB, Acha MR, Newton-Cheh C, Pfeufer A, Lynch SN, , Olesen SP, Brunak S, Ellinor PT, Jukema JW, Trompet S, Ford I, Macfarlane PW, Krijthe BP, Hofman A, Uitterlinden AG, Stricker BH, Nathoe HM, Spiering W, Daly MJ, Asselbergs FW, van der Harst P, Milan DJ, de Bakker PI, Lage K, Olsen JV
Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics.
Nat Methods. 2014;:ePub - PMID: 24952909
SIGMA Type 2 Diabetes Consortium, Estrada K, Aukrust I, Bjørkhaug L, Burtt NP, Mercader JM, García-Ortiz H, Huerta-Chagoya A, Moreno-Macías H, Walford G, Flannick J, Williams AL, Gómez-Vázquez MJ, Fernandez-Lopez JC, Martínez-Hernández A, Centeno-Cruz F, Mendoza-Caamal E, Revilla-Monsalve C, Islas-Andrade S, Córdova EJ, Soberón X, González-Villalpando ME, Henderson E, Wilkens LR, Le Marchand L, Arellano-Campos O, Ordóñez-Sánchez ML, Rodríguez-Torres M, Rodríguez-Guillén R, Riba L, Najmi LA, Jacobs SB, Fennell T, Gabriel S, Fontanillas P, Hanis CL, Lehman DM, Jenkinson CP, Abboud HE, Bell GI, Cortes ML, Boehnke M, González-Villalpando C, Orozco L, Haiman CA, Tusié-Luna T, Aguilar-Salinas CA, Altshuler D, Njølstad PR, Florez JC, MacArthur DG
Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population.
JAMA. 2014;311(22):2305-2314 - PMID: 24915262
Medland SE, Jahanshad N, Neale BM, Thompson PM
Whole-genome analyses of whole-brain data: working within an expanded search space.
Nat Neurosci. 2014;17(6):791-800 - PMID: 24866045
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 MJ, Lifton RP, De Camilli P, Zhao H, Sestan N, State MW
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.
Mol Autism. 2014;5:31 - PMID: 24860643 - PMCID: PMC4032628
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 MJ, Virgin HW, Schreiber SL, Stappenbeck TS, Xavier RJ
Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense.
Proc Natl Acad Sci U S A. 2014;111(21):7741-7746 - PMID: 24821797 - PMCID: PMC4040621
Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, Macarthur DG, , Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V
Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy.
Am J Hum Genet. 2014;94(5):760-9 - PMID: 24791901
Kukurba KR, Zhang R, Li X, Smith KS, Knowles DA, How Tan M, Piskol R, Lek M, Snyder M, Macarthur DG, Li JB, Montgomery SB
Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues.
PLoS Genet. 2014;10(5):e1004304 - PMID: 24786518 - PMCID: PMC4006732
Szatkiewicz JP, O'Dushlaine C, Chen G, Chambert K, Moran JL, Neale BM, Fromer M, Ruderfer D, Akterin S, Bergen SE, Kähler A, Magnusson PK, Kim Y, Crowley JJ, Rees E, Kirov G, O'Donovan MC, Owen MJ, Walters J, Scolnick E, Sklar P, Purcell S, Hultman CM, McCarroll SA, Sullivan PF
Copy number variation in schizophrenia in Sweden.
Mol Psychiatry. 2014;:ePub - PMID: 24776740
Fromer M, Purcell SM
Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data.
Curr Protoc Hum Genet. 2014;81:7.23.1-7.23.21 - PMID: 24763994
Bigdeli TB, Neale BM, Neale MC
Statistical Properties of Single-Marker Tests for Rare Variants.
Twin Res Hum Genet. 2014;:1-8 - PMID: 24739319
Sham PC, Purcell SM
Statistical power and significance testing in large-scale genetic studies.
Nat Rev Genet. 2014;15(5):335-46 - PMID: 24739678
Hart AB, Gamazon ER, Engelhardt BE, Sklar P, Kähler AK, Hultman CM, Sullivan PF, Neale BM, Faraone SV, , de Wit H, Cox NJ, Palmer AA
Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder.
Proc Natl Acad Sci U S A. 2014;111(16):5968-73 - PMID: 24711425 - PMCID: PMC4000861
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, Dechene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzy Ski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, Macarthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, Deluca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovre I L, Palanda I A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Genome Biol. 2014;15(3):R53 - PMID: 24667040
Chan Y, Lim ET, Sandholm N, Wang SR, McKnight AJ, Ripke S, DIAGRAM Consortium, GENIE Consortium, GIANT Consortium, IIBDGC Consortium, PGC Consortium, Daly MJ, Neale BM, Salem RM, Hirschhorn JN
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.
Am J Hum Genet. 2014;94(3):437-52 - PMID: 24607388 - PMCID: PMC3951950
Bergen SE, O'Dushlaine CT, Lee PH, Fanous AH, Ruderfer DM, Ripke S, , Sullivan PF, Smoller JW, Purcell SM, Corvin A
Genetic modifiers and subtypes in schizophrenia: Investigations of age at onset, severity, sex and family history.
Schizophr Res. 2014;154(1-3):48-53 - PMID: 24581549
Solovieff N, Roberts AL, Ratanatharathorn A, Haloosim M, De Vivo I, King AP, Liberzon I, Aiello A, Uddin M, Wildman DE, Galea S, Smoller JW, Purcell SM, Koenen KC
Genetic Association Analysis of 300 Genes Identifies a Risk Haplotype in SLC18A2 for Posttraumatic Stress Disorder in two Independent Samples.
Neuropsychopharmacology. 2014;:ePub - PMID: 24525708
Morris DW, Pearson RD, Cormican P, Kenny EM, O'Dushlaine CT, Lemieux Perreault LP, Giannoulatou E, Tropea D, Maher BS, Wormley B, Kelleher E, Fahey C, Molinos I, Bellini S, Pirinen M, Strange A, Freeman C, Thiselton DL, Elves RL, Regan R, Ennis S, Dinan TG, McDonald C, Murphy KC, O'Callaghan E, Waddington JL, Walsh D, O'Donovan M, Grozeva D, Craddock N, Stone J, Scolnick E, Purcell S, Sklar P, Coe B, Eichler EE, Ophoff R, Buizer J, Szatkiewicz J, Hultman C, Sullivan P, Gurling H, McQuillin A, St Clair D, Rees E, Kirov G, Walters J, Blackwood D, Johnstone M, Donohoe G, , , O'Neill FA, , Kendler KS, Gill M, Riley BP, Spencer CC, Corvin A
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.
Hum Mol Genet. 2014;23(12):3316-26 - PMID: 24474471 - PMCID: PMC4030770
Fowler SA, Ananthakrishnan AN, Gardet A, Stevens CR, Korzenik JR, Sands BE, Daly MJ, Xavier RJ, Yajnik V
SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease.
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Nat Genet. 2013;45(10):1150-9 - PMID: 23974872 - PMCID: PMC3827979
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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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Discovery and refinement of loci associated with lipid levels.
Nat Genet. 2013;45(11):1274-83 - PMID: 24097068 - PMCID: PMC3838666
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Genetic determinants of mortality. Can findings from genome-wide association studies explain variation in human mortality?
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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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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
Wong EH, So HC, Li M, Wang Q, Butler AW, Paul B, Wu HM, Hui TC, Choi SC, So MT, Garcia-Barcelo MM, McAlonan GM, Chen EY, Cheung EF, Chan RC, Purcell SM, Cherny SS, Chen RR, Li T, Sham PC
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
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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
Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüs ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GR, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F, , Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M
Integrative annotation of variants from 1092 humans: application to cancer genomics.
Science. 2013;342(6154):1235587 - PMID: 24092746 - PMCID: PMC3947637
Poultney CS, Goldberg AP, Drapeau E, Kou Y, Harony-Nicolas H, Kajiwara Y, De Rubeis S, Durand S, Stevens C, Rehnström K, Palotie A, Daly MJ, Ma'ayan A, Fromer M, Buxbaum JD
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
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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
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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
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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
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Genome-wide meta-analysis identifies new susceptibility loci for migraine.
Nat Genet. 2013;45(8):912-7 - PMID: 23793025 - PMCID: PMC4041123
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Germline mutations affecting G?11 in hypoparathyroidism.
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Fine-scale patterns of population stratification confound rare variant association tests.
PLoS One. 2013;8(7):e65834 - PMID: 23861739 - PMCID: PMC3701690
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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
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Evaluation of intraoperative cone beam computed tomography and optical drill tracking in temporal bone surgery.
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
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Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.
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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
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lobSTR: A short tandem repeat profiler for personal genomes.
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Interactions of subunit CCT3 in the yeast chaperonin CCT/TRiC with Q/N-rich proteins revealed by high-throughput microscopy analysis.
Proc Natl Acad Sci U S A. 2012;109(46):18833-8 - PMID: 23112166 - PMCID: PMC3503220
Sebastián C, Zwaans BM, Silberman DM, Gymrek M, Goren A, Zhong L, Ram O, Truelove J, Guimaraes AR, Toiber D, Cosentino C, Greenson JK, MacDonald AI, McGlynn L, Maxwell F, Edwards J, Giacosa S, Guccione E, Weissleder R, Bernstein BE, Regev A, Shiels PG, Lombard DB, Mostoslavsky R
The histone deacetylase SIRT6 is a tumor suppressor that controls cancer metabolism.
Cell. 2012;151(6):1185-99 - PMID: 23217706 - PMCID: PMC3526953
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Am J Epidemiol. 2012;175(7):715-24 - PMID: 22396388 - PMCID: PMC3324433
Magnusson PK, Almqvist C, Rahman I, Ganna A, Viktorin A, Walum H, Halldner L, Lundström S, Ullén F, Långström N, Larsson H, Nyman A, Gumpert CH, Råstam M, Anckarsäter H, Cnattingius S, Johannesson M, Ingelsson E, Klareskog L, de Faire U, Pedersen NL, Lichtenstein P
The Swedish Twin Registry: establishment of a biobank and other recent developments.
Twin Res Hum Genet. 2012;16(1):317-29 - PMID: 23137839
Nettleton JA, Hivert MF, Lemaitre RN, McKeown NM, Mozaffarian D, Tanaka T, Wojczynski MK, Hruby A, Djoussé L, Ngwa JS, Follis JL, Dimitriou M, Ganna A, Houston DK, Kanoni S, Mikkilä V, Manichaikul A, Ntalla I, Renström F, Sonestedt E, van Rooij FJ, Bandinelli S, de Koning L, Ericson U, Hassanali N, Kiefte-de Jong JC, Lohman KK, Raitakari O, Papoutsakis C, Sjogren P, Stirrups K, Ax E, Deloukas P, Groves CJ, Jacques PF, Johansson I, Liu Y, McCarthy MI, North K, Viikari J, Zillikens MC, Dupuis J, Hofman A, Kolovou G, Mukamal K, Prokopenko I, Rolandsson O, Seppälä I, Cupples LA, Hu FB, Kähönen M, Uitterlinden AG, Borecki IB, Ferrucci L, Jacobs DR, Kritchevsky SB, Orho-Melander M, Pankow JS, Lehtimäki T, Witteman JC, Ingelsson E, Siscovick DS, Dedoussis G, Meigs JB, Franks PW
Meta-analysis investigating associations between healthy diet and fasting glucose and insulin levels and modification by loci associated with glucose homeostasis in data from 15 cohorts.
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Ganna A, Reilly M, de Faire U, Pedersen N, Magnusson P, Ingelsson E
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Am J Epidemiol. 2012;175(7):715-24 - PMID: 22396388 - PMCID: PMC3324433
Langley K, Martin J, Agha SS, Davies C, Stergiakouli E, Holmans P, Williams N, Owen M, O'Donovan M, Thapar A
Clinical and cognitive characteristics of children with attention-deficit hyperactivity disorder, with and without copy number variants.
Br J Psychiatry. 2011;199(5):398-403 - PMID: 22045946 - PMCID: PMC3205349
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Using DNA sequencers as stethoscopes.
Genome Med. 2011;3(11):73 - PMID: 22103962 - PMCID: PMC3308028
Ram O, Goren A, Amit I, Shoresh N, Yosef N, Ernst J, Kellis M, Gymrek M, Issner R, Coyne M, Durham T, Zhang X, Donaghey J, Epstein CB, Regev A, Bernstein BE
Combinatorial patterning of chromatin regulators uncovered by genome-wide location analysis in human cells.
Cell. 2011;147(7):1628-39 - PMID: 22196736 - PMCID: PMC3312319
Cheng R, Lim JE, Samocha KE, Sokoloff G, Abney M, Skol AD, Palmer AA
Genome-wide association studies and the problem of relatedness among advanced intercross lines and other highly recombinant populations.
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Fine mapping of QTL for prepulse inhibition in LG/J and SM/J mice using F(2) and advanced intercross lines.
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Ozsolak F, Goren A, Gymrek M, Guttman M, Regev A, Bernstein BE, Milos PM
Digital transcriptome profiling from attomole-level RNA samples.
Genome Res. 2010;20(4):519-25 - PMID: 20133332 - PMCID: PMC2847755
Naegle KM, Gymrek M, Joughin BA, Wagner JP, Welsch RE, Yaffe MB, Lauffenburger DA, White FM
PTMScout, a Web resource for analysis of high throughput post-translational proteomics studies.
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Analysis of survival with modified docetaxel, cisplatin, fluorouracil (mDCF), and bevacizumab (BEV) in patients with metastatic gastroesophageal (GE) adenocarcinoma: Results of a phase II clinical trial.
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Replication of long-bone length QTL in the F9-F10 LG,SM advanced intercross.
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Chromatin profiling by directly sequencing small quantities of immunoprecipitated DNA.
Nat Methods. 2009;7(1):47-9 - PMID: 19946276 - PMCID: PMC2862482
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