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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
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
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
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
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
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
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
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
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
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
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
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
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
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
de Leeuw CA, Neale BM, Heskes T, Posthuma D
The statistical properties of gene-set analysis.
Nat Rev Genet. 2016;:ePub - PMID: 27070863
Minică CC, Genovese G, Hultman CM, Pool R, Vink JM, Neale MC, Dolan CV, Neale BM
The Weighting is the Hardest Part: On the Behavior of the Likelihood Ratio Test and the Score Test Under a Data-Driven Weighting Scheme in Sequenced Samples.
Twin Res Hum Genet. 2017;:1-11 - PMID: 28238293
Koch H, Rusch W, Frühmorgen P, Lux G
[Diagnosis of acute gastrointestinal hemorrhages].
MMW Munch Med Wochenschr. 1979;121(29-30):975-6 - PMID: 111111
Artomov M, Rivas MA, Genovese G, Daly MJ
Mosaic mutations in blood DNA sequence are associated with solid tumor cancers.
NPJ Genom Med. 2017;2:22 - PMID: 29263833 - PMCID: PMC5677955
Jason F, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Müller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stančáková A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu Y, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, Farook VS, Fowler SP, Freedman BI, Griswold M, Hale DE, Hicks PJ, Khor CC, Kumar S, Lehne B, Thuillier D, Lim WY, Liu J, Loh M, Musani SK, Puppala S, Scott WR, Yengo L, Tan ST, Taylor HA, Thameem F, Wilson G, Wong TY, Njølstad PR, Levy JC, Mangino M, Bonnycastle LL, Schwarzmayr T, Fadista J, Surdulescu GL, Herder C, Groves CJ, Wieland T, Bork-Jensen J, Brandslund I, Christensen C, Koistinen HA, Doney ASF, Kinnunen L, Esko T, Farmer AJ, Hakaste L, Hodgkiss D, Kravic J, Lyssenko V, Hollensted M, Jørgensen ME, Jørgensen T, Ladenvall C, Justesen JM, Käräjämäki A, Kriebel J, Rathmann W, Lannfelt L, Lauritzen T, Narisu N, Linneberg A, Melander O, Milani L, Neville M, Orho-Melander M, Qi L, Qi Q, Roden M, Rolandsson O, Swift A, Rosengren AH, Stirrups K, Wood AR, Mihailov E, Blancher C, Carneiro MO, Maguire J, Poplin R, Shakir K, Fennell T, DePristo M, de Angelis MH, Deloukas P, Gjesing AP, Jun G, Nilsson P, Murphy J, Onofrio R, Thorand B, Hansen T, Meisinger C, Hu FB, Isomaa B, Karpe F, Liang L, Peters A, Huth C, O'Rahilly SP, Palmer CNA, Pedersen O, Rauramaa R, Tuomilehto J, Salomaa V, Watanabe RM, Syvänen AC, Bergman RN, Bharadwaj D, Bottinger EP, Cho YS, Chandak GR, Chan JC, Chia KS, Daly MJ, Ebrahim SB, Langenberg C, Elliott P, Jablonski KA, Lehman DM, Jia W, Ma RCW, Pollin TI, Sandhu M, Tandon N, Froguel P, Barroso I, Teo YY, Zeggini E, Loos RJF, Small KS, Ried JS, DeFronzo RA, Grallert H, Glaser B, Metspalu A, Wareham NJ, Walker M, Banks E, Gieger C, Ingelsson E, Im HK, Illig T, Franks PW, Buck G, Trakalo J, Buck D, Prokopenko I, Mägi R, Lind L, Farjoun Y, Owen KR, Gloyn AL, Strauch K, Tuomi T, Kooner JS, Lee JY, Park T, Donnelly P, Morris AD, Hattersley AT, Bowden DW, Collins FS, Atzmon G, Chambers JC, Spector TD, Laakso M, Strom TM, Bell GI, Blangero J, Duggirala R, Tai ES, McVean G, Hanis CL, Wilson JG, Seielstad M, Frayling TM, Meigs JB, Cox NJ, Sladek R, Lander ES, Gabriel S, Mohlke KL, Meitinger T, Groop L, Abecasis G, Scott LJ, Morris AP, Kang HM, Altshuler D, Burtt NP, Florez JC, Boehnke M, McCarthy MI
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
Sci Data. 2017;4:170179 - PMID: 29257133
Martin AR, Lin M, Granka JM, Myrick JW, Liu X, Sockell A, Atkinson EG, Werely CJ, Möller M, Sandhu MS, Kingsley DM, Hoal EG, Liu X, Daly MJ, Feldman MW, Gignoux CR, Bustamante CD, Henn BM
An Unexpectedly Complex Architecture for Skin Pigmentation in Africans.
Cell. 2017;171(6):1340-1353.e14 - PMID: 29195075
Sanders SJ, Neale BM, Huang H, Werling DM, An JY, Dong S, Abecasis G, Arguello PA, Blangero J, Boehnke M, Daly MJ, Eggan K, Geschwind DH, Glahn DC, Goldstein DB, Gur RE, Handsaker RE, McCarroll SA, Ophoff RA, Palotie A, Pato CN, Sabatti C, State MW, Willsey AJ, Hyman SE, Addington AM, Lehner T, Freimer NB, and Whole Genome Sequencing for Psychiatric Disorders (WGSPD)
Whole genome sequencing in psychiatric disorders: the WGSPD consortium.
Nat Neurosci. 2017;20(12):1661-1668 - PMID: 29184211
Huang H, Duggal P, Thio CL, Latanich R, Goedert JJ, Mangia A, Cox AL, Kirk GD, Mehta S, Aneja J, Alric L, Donfield SM, Cramp ME, Khakoo SI, Tobler LH, Busch M, Alexander GJ, Rosen HR, Edlin BR, Segal FP, Lauer GM, Thomas DL, Daly MJ, Chung RT, Kim AY
Fine-mapping of genetic loci driving spontaneous clearance of hepatitis C virus infection.
Sci Rep. 2017;7(1):15843 - PMID: 29158528
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 Helmut Fuchs SM, 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, Nutter SNLMJ, 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, Wurst W, 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 SDM, Adams DJ, Lloyd KCK, McKerlie C, Beaudet AL, Murray MBSA
Corrigendum: High-throughput discovery of novel developmental phenotypes.
Nature. 2017;551(7680):398 - PMID: 29144450
Leshchiner ES, Rush JS, Durney MA, Cao Z, Dančík V, Chittick B, Wu H, Petrone A, Bittker JA, Phillips A, Perez JR, Shamji AF, Kaushik VK, Daly MJ, Graham DB, Schreiber SL, Xavier RJ
Small-molecule inhibitors directly target CARD9 and mimic its protective variant in inflammatory bowel disease.
Proc Natl Acad Sci U S A. 2017;114(43):11392-11397 - PMID: 29073062
Kerminen S, Havulinna AS, Hellenthal G, Martin AR, Sarin AP, Perola M, Palotie A, Salomaa V, Daly MJ, Ripatti S, Pirinen M
Fine-Scale Genetic Structure in Finland.
G3 (Bethesda). 2017;7(10):3459-3468 - PMID: 28983069
Gazal S, Finucane HK, Furlotte NA, Loh PR, Palamara PF, Liu X, Schoech A, Bulik-Sullivan B, Neale BM, Gusev A, Price AL
Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection.
Nat Genet. 2017;:ePub - PMID: 28892061
Simeonov DR, Gowen BG, Boontanrart M, Roth TL, Gagnon JD, Mumbach MR, Satpathy AT, Lee Y, Bray NL, Chan AY, Lituiev DS, Nguyen ML, Gate RE, Subramaniam M, Li Z, Woo JM, Mitros T, Ray GJ, Curie GL, Naddaf N, Chu JS, Ma H, Boyer E, Van Gool F, Huang H, Liu R, Tobin VR, Schumann K, Daly MJ, Farh KK, Ansel KM, Ye CJ, Greenleaf WJ, Anderson MS, Bluestone JA, Chang HY, Corn JE, Marson A
Discovery of stimulation-responsive immune enhancers with CRISPR activation.
Nature. 2017;:ePub - PMID: 28854172
Leonenko G, Richards AL, Walters JT, Pocklington A, Chambert K, Al Eissa MM, Sharp SI, O'Brien NL, Curtis D, Bass NJ, McQuillin A, Hultman C, Moran JL, McCarroll SA, Sklar P, Neale BM, Holmans PA, Owen MJ, Sullivan PF, O'Donovan MC
Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia.
Am J Med Genet B Neuropsychiatr Genet. 2017;:ePub - PMID: 28719003
Wang SH, Hsiao PC, Yeh LL, Liu CM, Liu CC, Hwang TJ, Hsieh MH, Chien YL, Lin YT, Chandler SD, Faraone SV, Laird N, Neale B, McCarroll SA, Glatt SJ, Tsuang MT, Hwu HG, Chen WJ
Polygenic risk for schizophrenia and neurocognitive performance in patients with schizophrenia.
Genes Brain Behav. 2017;:ePub - PMID: 28719030
Zhang BF, Wang PF, Cong YX, Lei JL, Wang H, Huang H, Han S, Zhuang Y
Anti-high mobility group box-1 (HMGB1) antibody attenuates kidney damage following experimental crush injury and the possible role of the tumor necrosis factor-α and c-Jun N-terminal kinase pathway.
J Orthop Surg Res. 2017;12(1):110 - PMID: 28701229
Shooshtari P, Huang H, Cotsapas C
Integrative Genetic and Epigenetic Analysis Uncovers Regulatory Mechanisms of Autoimmune Disease.
Am J Hum Genet. 2017;101(1):75-86 - PMID: 28686857
Jiang Y, Ye L, Cui Y, Yang G, Yang W, Wang J, Hu J, Gu W, Shi C, Huang H, Wang C
Effects of Lactobacillus rhamnosus GG on the maturation and differentiation of dendritic cells in rotavirus-infected mice.
Benef Microbes. 2017;:1-12 - PMID: 28670908
Li J, Zhang W, Yang H, Howrigan DP, Wilkinson B, Souaiaia T, Evgrafov OV, Genovese G, Clementel VA, Tudor JC, Abel T, Knowles JA, Neale BM, Wang K, Sun F, Coba MP
Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders.
Nat Neurosci. 2017;:ePub - PMID: 28671696
Huang H, Fang M, Jostins L, Umićević Mirkov M, Boucher G, Anderson CA, Andersen V, Cleynen I, Cortes A, Crins F, D'Amato M, Deffontaine V, Dmitrieva J, Docampo E, Elansary M, Farh KK, Franke A, Gori AS, Goyette P, Halfvarson J, Haritunians T, Knight J, Lawrance IC, Lees CW, Louis E, Mariman R, Meuwissen T, Mni M, Momozawa Y, Parkes M, Spain SL, Théâtre E, Trynka G, Satsangi J, van Sommeren S, Vermeire S, Xavier RJ, International Inflammatory Bowel Disease Genetics Consortium, Weersma RK, Duerr RH, Mathew CG, Rioux JD, McGovern DPB, Cho JH, Georges M, Daly MJ, Barrett JC
Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Nature. 2017;:ePub - PMID: 28658209
Lindström S, Finucane H, Bulik-Sullivan B, Schumacher FR, Amos CI, Hung RJ, Rand K, Gruber SB, Conti D, Permuth JB, Lin HY, Goode EL, Sellers TA, Amundadottir LT, Stolzenberg-Solomon R, Klein A, Petersen G, Risch H, Wolpin B, Hsu L, Huyghe JR, Chang Claude J, Chan A, Berndt S, Eeles RA, Easton D, Haiman CA, Hunter DJ, Neale B, Price A, Kraft P
Quantifying the genetic correlation between multiple cancer types.
Cancer Epidemiol Biomarkers Prev. 2017;:ePub - PMID: 28637796
Huang AY, Yu D, Davis LK, Sul JH, Tsetsos F, Ramensky V, Zelaya I, Ramos EM, Osiecki L, Chen JA, McGrath LM, Illmann C, Sandor P, Barr CL, Grados M, Singer HS, Nöthen MM, Hebebrand J, King RA, Dion Y, Rouleau G, Budman CL, Depienne C, Worbe Y, Hartmann A, Müller-Vahl KR, Stuhrmann M, Aschauer H, Stamenkovic M, Schloegelhofer M, Konstantinidis A, Lyon GJ, McMahon WM, Barta C, Tarnok Z, Nagy P, Batterson JR, Rizzo R, Cath DC, Wolanczyk T, Berlin C, Malaty IA, Okun MS, Woods DW, Rees E, Pato CN, Pato MT, Knowles JA, Posthuma D, Pauls DL, Cox NJ, Neale BM, Freimer NB, Paschou P, Mathews CA, Scharf JM, Coppola G, Tourette Syndrome Association International Consortium for Genetics (TSAICG), Gilles de la Tourette Syndrome GWAS Replication Initiative (GGRI)
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.
Neuron. 2017;94(6):1101-1111.e7 - PMID: 28641109
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
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nat Genet. 2017;49(6):969 - PMID: 28546579
Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA, Grove J, Samocha KE, Goldstein JI, Okbay A, Bybjerg-Grauholm J, Werge T, Hougaard DM, Taylor J, iPSYCH-Broad Autism Group, Psychiatric Genomics Consortium Autism Group, Skuse D, Devlin B, Anney R, Sanders SJ, Bishop S, Mortensen PB, Børglum AD, Smith GD, Daly MJ, Robinson EB
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Nat Genet. 2017;:ePub - PMID: 28504703
Willsey AJ, Fernandez TV, Yu D, King RA, Dietrich A, Xing J, Sanders SJ, Mandell JD, Huang AY, Richer P, Smith L, Dong S, Samocha KE, Tourette International Collaborative Genetics (TIC Genetics), Tourette Syndrome Association International Consortium for Genetics (TSAICG), Neale BM, Coppola G, Mathews CA, Tischfield JA, Scharf JM, State MW, Heiman GA
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Neuron. 2017;94(3):486-499.e9 - PMID: 28472652
Saleheen D, Natarajan P, Armean IM, Zhao W, Rasheed A, Khetarpal SA, Won HH, Karczewski KJ, O'Donnell-Luria AH, Samocha KE, Weisburd B, Gupta N, Zaidi M, Samuel M, Imran A, Abbas S, Majeed F, Ishaq M, Akhtar S, Trindade K, Mucksavage M, Qamar N, Zaman KS, Yaqoob Z, Saghir T, Rizvi SN, Memon A, Hayyat Mallick N, Ishaq M, Rasheed SZ, Memon FU, Mahmood K, Ahmed N, Do R, Krauss RM, MacArthur DG, Gabriel S, Lander ES, Daly MJ, Frossard P, Danesh J, Rader DJ, Kathiresan S
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Nature. 2017;544(7649):235-239 - PMID: 28406212
Robinson E, Kersbergen I
Overweight or about right? A norm comparison explanation of perceived weight status.
Obes Sci Pract. 2017;3(1):36-43 - PMID: 28392930 - PMCID: PMC5358078
Ge T, Chen CY, Neale BM, Sabuncu MR, Smoller JW
Phenome-wide heritability analysis of the UK Biobank.
PLoS Genet. 2017;13(4):e1006711 - PMID: 28388634
Martin AR, Gignoux CR, Walters RK, Wojcik GL, Neale BM, Gravel S, Daly MJ, Bustamante CD, Kenny EE
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.
Am J Hum Genet. 2017;:ePub - PMID: 28366442
Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR
Estimating the selective effects of heterozygous protein-truncating variants from human exome data.
Nat Genet. 2017;:ePub - PMID: 28369035
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A Low-Frequency Inactivating Akt2 Variant Enriched in the Finnish Population is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.
Diabetes. 2017;:ePub - PMID: 28341696
Liu X, Finucane HK, Gusev A, Bhatia G, Gazal S, O'Connor L, Bulik-Sullivan B, Wright FA, Sullivan PF, Neale BM, Price AL
Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues.
Am J Hum Genet. 2017;:ePub - PMID: 28343628
Brynedal B, Choi J, Raj T, Bjornson R, Stranger BE, Neale BM, Voight BF, Cotsapas C
Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation.
Am J Hum Genet. 2017;:ePub - PMID: 28285767
Bishop SL, Farmer C, Bal V, Robinson EB, Willsey AJ, Werling DM, Havdahl KA, Sanders SJ, Thurm A
Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder.
Am J Psychiatry. 2017;:appiajp201716101115 - PMID: 28253736
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A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
Nat Commun. 2016;7:12342 - PMID: 27503255
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Analysis of protein-coding genetic variation in 60,706 humans.
Nature. 2016;536(7616):285-91 - PMID: 27535533
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