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Items: 1 to 50 of 712

1.

Predicting Polygenic Risk of Psychiatric Disorders.

Martin AR, Daly MJ, Robinson EB, Hyman SE, Neale BM.

Biol Psychiatry. 2018 Dec 28. pii: S0006-3223(18)32119-X. doi: 10.1016/j.biopsych.2018.12.015. [Epub ahead of print] Review.

PMID:
30737014
2.

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes.

Artomov M, Joseph V, Tiao G, Thomas T, Schrader K, Klein RJ, Kiezun A, Gupta N, Margolin L, Stratigos AJ, Kim I, Shannon K, Ellisen LW, Haber D, Getz G, Tsao H, Lipkin SM, Altshuler D, Offit K, Daly MJ.

Eur J Hum Genet. 2019 Feb 4. doi: 10.1038/s41431-019-0346-0. [Epub ahead of print]

PMID:
30718883
3.

SLC39A8 missense variant is associated with Crohn's disease but does not have a major impact on gut microbiome composition in healthy subjects.

Collij V, Imhann F, Vich Vila A, Fu J, Dijkstra G, Festen EAM, Voskuil MD, Daly MJ, Xavier RJ, Wijmenga C, Zhernakova A, Weersma RK.

PLoS One. 2019 Jan 31;14(1):e0211328. doi: 10.1371/journal.pone.0211328. eCollection 2019.

4.

A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment.

Schork AJ, Won H, Appadurai V, Nudel R, Gandal M, Delaneau O, Revsbech Christiansen M, Hougaard DM, Bækved-Hansen M, Bybjerg-Grauholm J, Giørtz Pedersen M, Agerbo E, Bøcker Pedersen C, Neale BM, Daly MJ, Wray NR, Nordentoft M, Mors O, Børglum AD, Bo Mortensen P, Buil A, Thompson WK, Geschwind DH, Werge T.

Nat Neurosci. 2019 Jan 28. doi: 10.1038/s41593-018-0320-0. [Epub ahead of print]

PMID:
30692689
5.

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.

Kurki MI, Saarentaus E, Pietiläinen O, Gormley P, Lal D, Kerminen S, Torniainen-Holm M, Hämäläinen E, Rahikkala E, Keski-Filppula R, Rauhala M, Korpi-Heikkilä S, Komulainen-Ebrahim J, Helander H, Vieira P, Männikkö M, Peltonen M, Havulinna AS, Salomaa V, Pirinen M, Suvisaari J, Moilanen JS, Körkkö J, Kuismin O, Daly MJ, Palotie A.

Nat Commun. 2019 Jan 24;10(1):410. doi: 10.1038/s41467-018-08262-y.

6.

Disentangling polygenic associations between attention-deficit/hyperactivity disorder, educational attainment, literacy and language.

Verhoef E, Demontis D, Burgess S, Shapland CY, Dale PS, Okbay A, Neale BM, Faraone SV; iPSYCH-Broad-PGC ADHD Consortium, Stergiakouli E, Davey Smith G, Fisher SE, Børglum AD, St Pourcain B.

Transl Psychiatry. 2019 Jan 24;9(1):35. doi: 10.1038/s41398-018-0324-2.

7.

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.

An JY, Lin K, Zhu L, Werling DM, Dong S, Brand H, Wang HZ, Zhao X, Schwartz GB, Collins RL, Currall BB, Dastmalchi C, Dea J, Duhn C, Gilson MC, Klei L, Liang L, Markenscoff-Papadimitriou E, Pochareddy S, Ahituv N, Buxbaum JD, Coon H, Daly MJ, Kim YS, Marth GT, Neale BM, Quinlan AR, Rubenstein JL, Sestan N, State MW, Willsey AJ, Talkowski ME, Devlin B, Roeder K, Sanders SJ.

Science. 2018 Dec 14;362(6420). pii: eaat6576. doi: 10.1126/science.aat6576.

PMID:
30545852
8.

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

Demontis D, Walters RK, Martin J, Mattheisen M, Als TD, Agerbo E, Baldursson G, Belliveau R, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Churchhouse C, Dumont A, Eriksson N, Gandal M, Goldstein JI, Grasby KL, Grove J, Gudmundsson OO, Hansen CS, Hauberg ME, Hollegaard MV, Howrigan DP, Huang H, Maller JB, Martin AR, Martin NG, Moran J, Pallesen J, Palmer DS, Pedersen CB, Pedersen MG, Poterba T, Poulsen JB, Ripke S, Robinson EB, Satterstrom FK, Stefansson H, Stevens C, Turley P, Walters GB, Won H, Wright MJ; ADHD Working Group of the Psychiatric Genomics Consortium (PGC); Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium; 23andMe Research Team, Andreassen OA, Asherson P, Burton CL, Boomsma DI, Cormand B, Dalsgaard S, Franke B, Gelernter J, Geschwind D, Hakonarson H, Haavik J, Kranzler HR, Kuntsi J, Langley K, Lesch KP, Middeldorp C, Reif A, Rohde LA, Roussos P, Schachar R, Sklar P, Sonuga-Barke EJS, Sullivan PF, Thapar A, Tung JY, Waldman ID, Medland SE, Stefansson K, Nordentoft M, Hougaard DM, Werge T, Mors O, Mortensen PB, Daly MJ, Faraone SV, Børglum AD, Neale BM.

Nat Genet. 2019 Jan;51(1):63-75. doi: 10.1038/s41588-018-0269-7. Epub 2018 Nov 26.

PMID:
30478444
9.

Reply to 'Selective effects of heterozygous protein-truncating variants'.

Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR.

Nat Genet. 2019 Jan;51(1):3-4. doi: 10.1038/s41588-018-0301-y. No abstract available.

PMID:
30478437
10.

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.

Niestroj LM, Du J, Nothnagel M, May P, Palotie A, Daly MJ, Nürnberg P, Blümcke I, Lal D.

Epilepsia. 2018 Nov;59(11):2145-2152. doi: 10.1111/epi.14579. Epub 2018 Oct 20.

PMID:
30341947
11.

Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls - CORRIGENDUM.

Pettersson E, Lichtenstein P, Larsson H, Song J; Attention Deficit/Hyperactivity Disorder Working Group of the iPSYCH-Broad-PGC Consortium, Autism Spectrum Disorder Working Group of the iPSYCH-Broad-PGC Consortium, Bipolar Disorder Working Group of the PGC, Eating Disorder Working Group of the PGC, Major Depressive Disorder Working Group of the PGC, Obsessive Compulsive Disorders and Tourette Syndrome Working Group of the PGC, Schizophrenia CLOZUK, Substance Use Disorder Working Group of the PGC, Agrawal A, Børglum AD, Bulik CM, Daly MJ, Davis LK, Demontis D, Edenberg HJ, Grove J, Gelernter J, Neale BM, Pardiñas AF, Stahl E, Walters JTR, Walters R, Sullivan PF, Posthuma D, Polderman TJC.

Psychol Med. 2019 Jan;49(2):351. doi: 10.1017/S0033291718002945. Epub 2018 Oct 18. No abstract available.

PMID:
30334498
12.

Phenome-wide association studies across large population cohorts support drug target validation.

Diogo D, Tian C, Franklin CS, Alanne-Kinnunen M, March M, Spencer CCA, Vangjeli C, Weale ME, Mattsson H, Kilpeläinen E, Sleiman PMA, Reilly DF, McElwee J, Maranville JC, Chatterjee AK, Bhandari A, Nguyen KH, Estrada K, Reeve MP, Hutz J, Bing N, John S, MacArthur DG, Salomaa V, Ripatti S, Hakonarson H, Daly MJ, Palotie A, Hinds DA, Donnelly P, Fox CS, Day-Williams AG, Plenge RM, Runz H.

Nat Commun. 2018 Oct 16;9(1):4285. doi: 10.1038/s41467-018-06540-3.

13.

Rare loss of function variants in candidate genes and risk of colorectal cancer.

Rosenthal EA, Shirts BH, Amendola LM, Horike-Pyne M, Robertson PD, Hisama FM, Bennett RL, Dorschner MO, Nickerson DA, Stanaway IB, Nassir R, Vickers KT, Li C, Grady WM, Peters U, Jarvik GP; NHLBI GO Exome Sequencing Project.

Hum Genet. 2018 Oct;137(10):795-806. doi: 10.1007/s00439-018-1938-4. Epub 2018 Sep 28.

PMID:
30267214
14.

Genetic risk for schizophrenia and autism, social impairment and developmental pathways to psychosis.

Velthorst E, Froudist-Walsh S, Stahl E, Ruderfer D, Ivanov I, Buxbaum J; iPSYCH-Broad ASD Group, the IMAGEN consortium, Banaschewski T, Bokde ALW, Dipl-Psych UB, Büchel C, Quinlan EB, Desrivières S, Flor H, Frouin V, Garavan H, Gowland P, Heinz A, Ittermann B, Martinot MP, Artiges E, Nees F, Orfanos DP, Paus T, Poustka L, Hohmann S, Fröhner JH, Smolka MN, Walter H, Whelan R, Schumann G, Reichenberg A.

Transl Psychiatry. 2018 Sep 26;8(1):204. doi: 10.1038/s41398-018-0229-0.

15.

The critical needs and challenges for genetic architecture studies in Africa.

Martin AR, Teferra S, Möller M, Hoal EG, Daly MJ.

Curr Opin Genet Dev. 2018 Dec;53:113-120. doi: 10.1016/j.gde.2018.08.005. Epub 2018 Sep 18. Review.

PMID:
30240950
16.

Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls.

Pettersson E, Lichtenstein P, Larsson H, Song J; Attention Deficit/Hyperactivity Disorder Working Group of the iPSYCH-Broad-PGC Consortium, Autism Spectrum Disorder Working Group of the iPSYCH-Broad-PGC Consortium, Bipolar Disorder Working Group of the PGC, Eating Disorder Working Group of the PGC, Major Depressive Disorder Working Group of the PGC, Obsessive Compulsive Disorders and Tourette Syndrome Working Group of the PGC, Schizophrenia CLOZUK, Substance Use Disorder Working Group of the PGC, Agrawal A, Børglum AD, Bulik CM, Daly MJ, Davis LK, Demontis D, Edenberg HJ, Grove J, Gelernter J, Neale BM, Pardiñas AF, Stahl E, Walters JTR, Walters R, Sullivan PF, Posthuma D, Polderman TJC.

Psychol Med. 2018 Sep 17:1-8. doi: 10.1017/S0033291718002039. [Epub ahead of print]

PMID:
30221610
17.

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.

Gormley P, Kurki MI, Hiekkala ME, Veerapen K, Häppölä P, Mitchell AA, Lal D, Palta P, Surakka I, Kaunisto MA, Hämäläinen E, Vepsäläinen S, Havanka H, Harno H, Ilmavirta M, Nissilä M, Säkö E, Sumelahti ML, Liukkonen J, Sillanpää M, Metsähonkala L, Koskinen S, Lehtimäki T, Raitakari O, Männikkö M, Ran C, Belin AC, Jousilahti P, Anttila V, Salomaa V, Artto V, Färkkilä M; 23andMe Research Team; International Headache Genetics Consortium (IHGC), Runz H, Daly MJ, Neale BM, Ripatti S, Kallela M, Wessman M, Palotie A.

Neuron. 2018 Sep 5;99(5):1098. doi: 10.1016/j.neuron.2018.08.029. No abstract available.

PMID:
30189203
18.

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P; NHLBI TOPMed Lipids Working Group.

Nat Commun. 2018 Aug 23;9(1):3493. doi: 10.1038/s41467-018-05975-y.

19.

Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.

Denson LA, Jurickova I, Karns R, Shaw KA, Cutler DJ, Okou D, Alexander Valencia C, Dodd A, Mondal K, Aronow BJ, Haberman Y, Linn A, Price A, Bezold R, Lake K, Jackson K, Walters TD, Griffiths A, Baldassano RN, Noe JD, Hyams JS, Crandall WV, Kirschner BS, Heyman MB, Snapper S, Guthery SL, Dubinsky MC, Leleiko NS, Otley AR, Xavier RJ, Stevens C, Daly MJ, Zwick ME, Kugathasan S.

Inflamm Bowel Dis. 2018 Aug 13. doi: 10.1093/ibd/izy265. [Epub ahead of print]

PMID:
30124884
20.

Multiomics Analyses to Deliver the Most Effective Treatment to Every Patient With Inflammatory Bowel Disease.

Weersma RK, Xavier RJ; IBD Multi Omics Consortium, Vermeire S, Barrett JC.

Gastroenterology. 2018 Nov;155(5):e1-e4. doi: 10.1053/j.gastro.2018.07.039. Epub 2018 Aug 2. No abstract available.

21.

Molecular genetic overlap between migraine and major depressive disorder.

Yang Y, Zhao H, Boomsma DI, Ligthart L, Belin AC, Smith GD, Esko T, Freilinger TM, Hansen TF, Ikram MA, Kallela M, Kubisch C, Paraskevi C, Strachan DP, Wessman M; International Headache Genetics Consortium, van den Maagdenberg AMJM, Terwindt GM, Nyholt DR.

Eur J Hum Genet. 2018 Aug;26(8):1202-1216. doi: 10.1038/s41431-018-0150-2. Epub 2018 Jul 11.

PMID:
29995844
22.

Age at first birth in women is genetically associated with increased risk of schizophrenia.

Ni G, Gratten J, Wray NR, Lee SH; Schizophrenia Working Group of the Psychiatric Genomics Consortium.

Sci Rep. 2018 Jul 5;8(1):10168. doi: 10.1038/s41598-018-28160-z.

23.

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P; NHLBI TOPMed Lipids Working Group.

Nat Commun. 2018 Jul 4;9(1):2606. doi: 10.1038/s41467-018-04668-w. Erratum in: Nat Commun. 2018 Aug 23;9(1):3493.

24.

De novo variants in neurodevelopmental disorders with epilepsy.

Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S; EuroEPINOMICS RES Consortium, Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR.

Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.

PMID:
29942082
25.

IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.

Momozawa Y, Dmitrieva J, Théâtre E, Deffontaine V, Rahmouni S, Charloteaux B, Crins F, Docampo E, Elansary M, Gori AS, Lecut C, Mariman R, Mni M, Oury C, Altukhov I, Alexeev D, Aulchenko Y, Amininejad L, Bouma G, Hoentjen F, Löwenberg M, Oldenburg B, Pierik MJ, Vander Meulen-de Jong AE, Janneke van der Woude C, Visschedijk MC; International IBD Genetics Consortium, Lathrop M, Hugot JP, Weersma RK, De Vos M, Franchimont D, Vermeire S, Kubo M, Louis E, Georges M.

Nat Commun. 2018 Jun 21;9(1):2427. doi: 10.1038/s41467-018-04365-8.

26.

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes.

Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Electronic address: douglas.ruderfer@vanderbilt.edu; Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium.

Cell. 2018 Jun 14;173(7):1705-1715.e16. doi: 10.1016/j.cell.2018.05.046.

PMID:
29906448
27.

Author Correction: Discovery of stimulation-responsive immune enhancers with CRISPR activation.

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.

Nature. 2018 Jul;559(7715):E13. doi: 10.1038/s41586-018-0227-7.

PMID:
29899441
28.

Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study.

Olsen L, Sparsø T, Weinsheimer SM, Dos Santos MBQ, Mazin W, Rosengren A, Sanchez XC, Hoeffding LK, Schmock H, Baekvad-Hansen M, Bybjerg-Grauholm J, Daly MJ, Neale BM, Pedersen MG, Agerbo E, Mors O, Børglum A, Nordentoft M, Hougaard DM, Mortensen PB, Geschwind DH, Pedersen C, Thompson WK, Werge T.

Lancet Psychiatry. 2018 Jul;5(7):573-580. doi: 10.1016/S2215-0366(18)30168-8. Epub 2018 Jun 7.

PMID:
29886042
29.

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.

Ganna A, Satterstrom FK, Zekavat SM, Das I, Kurki MI, Churchhouse C, Alfoldi J, Martin AR, Havulinna AS, Byrnes A, Thompson WK, Nielsen PR, Karczewski KJ, Saarentaus E, Rivas MA, Gupta N, Pietiläinen O, Emdin CA, Lescai F, Bybjerg-Grauholm J, Flannick J; GoT2D/T2D-GENES Consortium, Mercader JM, Udler M; SIGMA Consortium Helmsley IBD Exome Sequencing Project; FinMetSeq Consortium; iPSYCH-Broad Consortium, Laakso M, Salomaa V, Hultman C, Ripatti S, Hämäläinen E, Moilanen JS, Körkkö J, Kuismin O, Nordentoft M, Hougaard DM, Mors O, Werge T, Mortensen PB, MacArthur D, Daly MJ, Sullivan PF, Locke AE, Palotie A, Børglum AD, Kathiresan S, Neale BM.

Am J Hum Genet. 2018 Jun 7;102(6):1204-1211. doi: 10.1016/j.ajhg.2018.05.002. Epub 2018 May 31.

30.

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides.

Zhang S, Samocha KE, Rivas MA, Karczewski KJ, Daly E, Schmandt B, Neale BM, MacArthur DG, Daly MJ.

Genome Res. 2018 Jul;28(7):968-974. doi: 10.1101/gr.231902.117. Epub 2018 Jun 1.

31.

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J; International IBD Genetics Consortium; NIDDK IBD Genetics Consortium; T2D-GENES Consortium, Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ.

PLoS Genet. 2018 May 24;14(5):e1007329. doi: 10.1371/journal.pgen.1007329. eCollection 2018 May.

32.

Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood.

Ni G, Moser G; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Wray NR, Lee SH.

Am J Hum Genet. 2018 Jun 7;102(6):1185-1194. doi: 10.1016/j.ajhg.2018.03.021. Epub 2018 May 10.

33.

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.

Gormley P, Kurki MI, Hiekkala ME, Veerapen K, Häppölä P, Mitchell AA, Lal D, Palta P, Surakka I, Kaunisto MA, Hämäläinen E, Vepsäläinen S, Havanka H, Harno H, Ilmavirta M, Nissilä M, Säkö E, Sumelahti ML, Liukkonen J, Sillanpää M, Metsähonkala L, Koskinen S, Lehtimäki T, Raitakari O, Männikkö M, Ran C, Belin AC, Jousilahti P, Anttila V, Salomaa V, Artto V, Färkkilä M; 23andMe Research Team; International Headache Genetics Consortium (IHGC), Runz H, Daly MJ, Neale BM, Ripatti S, Kallela M, Wessman M, Palotie A.

Neuron. 2018 May 16;98(4):743-753.e4. doi: 10.1016/j.neuron.2018.04.014. Epub 2018 May 3. Erratum in: Neuron. 2018 Sep 5;99(5):1098.

PMID:
29731251
34.

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.

Martin AR, Karczewski KJ, Kerminen S, Kurki MI, Sarin AP, Artomov M, Eriksson JG, Esko T, Genovese G, Havulinna AS, Kaprio J, Konradi A, Korányi L, Kostareva A, Männikkö M, Metspalu A, Perola M, Prasad RB, Raitakari O, Rotar O, Salomaa V, Groop L, Palotie A, Neale BM, Ripatti S, Pirinen M, Daly MJ.

Am J Hum Genet. 2018 May 3;102(5):760-775. doi: 10.1016/j.ajhg.2018.03.003. Epub 2018 Apr 26.

35.

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, Dea J, Duhn C, Erdman CA, Gilson MC, Yadav R, Handsaker RE, Kashin S, Klei L, Mandell JD, Nowakowski TJ, Liu Y, Pochareddy S, Smith L, Walker MF, Waterman MJ, He X, Kriegstein AR, Rubenstein JL, Sestan N, McCarroll SA, Neale BM, Coon H, Willsey AJ, Buxbaum JD, Daly MJ, State MW, Quinlan AR, Marth GT, Roeder K, Devlin B, Talkowski ME, Sanders SJ.

Nat Genet. 2018 May;50(5):727-736. doi: 10.1038/s41588-018-0107-y. Epub 2018 Apr 26.

36.

Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.

DeBoever C, Tanigawa Y, Lindholm ME, McInnes G, Lavertu A, Ingelsson E, Chang C, Ashley EA, Bustamante CD, Daly MJ, Rivas MA.

Nat Commun. 2018 Apr 24;9(1):1612. doi: 10.1038/s41467-018-03910-9.

37.

Genetic variants in cellular transport do not affect mesalamine response in ulcerative colitis.

Moran CJ, Huang H, Rivas M, Kaplan JL, Daly MJ, Winter HS.

PLoS One. 2018 Mar 26;13(3):e0192806. doi: 10.1371/journal.pone.0192806. eCollection 2018.

38.

Germline Lysine-Specific Demethylase 1 (LSD1/KDM1A) Mutations Confer Susceptibility to Multiple Myeloma.

Wei X, Calvo-Vidal MN, Chen S, Wu G, Revuelta MV, Sun J, Zhang J, Walsh MF, Nichols KE, Joseph V, Snyder C, Vachon CM, McKay JD, Wang SP, Jayabalan DS, Jacobs LM, Becirovic D, Waller RG, Artomov M, Viale A, Patel J, Phillip J, Chen-Kiang S, Curtin K, Salama M, Atanackovic D, Niesvizky R, Landgren O, Slager SL, Godley LA, Churpek J, Garber JE, Anderson KC, Daly MJ, Roeder RG, Dumontet C, Lynch HT, Mullighan CG, Camp NJ, Offit K, Klein RJ, Yu H, Cerchietti L, Lipkin SM.

Cancer Res. 2018 May 15;78(10):2747-2759. doi: 10.1158/0008-5472.CAN-17-1900. Epub 2018 Mar 20.

PMID:
29559475
39.

Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium.

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; Whole Genome Sequencing for Psychiatric Disorders (WGSPD).

Nat Neurosci. 2018 Jul;21(7):1017. doi: 10.1038/s41593-018-0102-8.

PMID:
29549319
40.

Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing.

Artomov M, Stratigos AJ, Kim I, Kumar R, Lauss M, Reddy BY, Miao B, Daniela Robles-Espinoza C, Sankar A, Njauw CN, Shannon K, Gragoudas ES, Marie Lane A, Iyer V, Newton-Bishop JA, Timothy Bishop D, Holland EA, Mann GJ, Singh T, Daly MJ, Tsao H.

J Natl Cancer Inst. 2017 Dec 1;109(12). doi: 10.1093/jnci/djx083.

41.

2017 William Allan Award Introduction: Kári Stefansson.

Daly MJ.

Am J Hum Genet. 2018 Mar 1;102(3):350. doi: 10.1016/j.ajhg.2018.01.010. No abstract available.

42.

Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.

Denson LA, Jurickova I, Karns R, Shaw KA, Cutler DJ, Okou DT, Dodd A, Quinn K, Mondal K, Aronow BJ, Haberman Y, Linn A, Price A, Bezold R, Lake K, Jackson K, Walters TD, Griffiths A, Baldassano RN, Noe JD, Hyams JS, Crandall WV, Kirschner BS, Heyman MB, Snapper S, Guthery SL, Dubinsky MC, Leleiko NS, Otley AR, Xavier RJ, Stevens C, Daly MJ, Zwick ME, Kugathasan S.

Gastroenterology. 2018 Jun;154(8):2097-2110. doi: 10.1053/j.gastro.2018.02.016. Epub 2018 Feb 15.

PMID:
29454792
43.

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap.

Gandal MJ, Haney JR, Parikshak NN, Leppa V, Ramaswami G, Hartl C, Schork AJ, Appadurai V, Buil A, Werge TM, Liu C, White KP; CommonMind Consortium; PsychENCODE Consortium; iPSYCH-BROAD Working Group, Horvath S, Geschwind DH.

Science. 2018 Feb 9;359(6376):693-697. doi: 10.1126/science.aad6469.

44.

C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions.

Mohanan V, Nakata T, Desch AN, Lévesque C, Boroughs A, Guzman G, Cao Z, Creasey E, Yao J, Boucher G, Charron G, Bhan AK, Schenone M, Carr SA, Reinecker HC, Daly MJ, Rioux JD, Lassen KG, Xavier RJ.

Science. 2018 Mar 9;359(6380):1161-1166. doi: 10.1126/science.aan0814. Epub 2018 Feb 1.

45.

Host genetic variation and its microbiome interactions within the Human Microbiome Project.

Kolde R, Franzosa EA, Rahnavard G, Hall AB, Vlamakis H, Stevens C, Daly MJ, Xavier RJ, Huttenhower C.

Genome Med. 2018 Jan 29;10(1):6. doi: 10.1186/s13073-018-0515-8.

46.

Prospects for Fungal Bioremediation of Acidic Radioactive Waste Sites: Characterization and Genome Sequence of Rhodotorula taiwanensis MD1149.

Tkavc R, Matrosova VY, Grichenko OE, Gostinčar C, Volpe RP, Klimenkova P, Gaidamakova EK, Zhou CE, Stewart BJ, Lyman MG, Malfatti SA, Rubinfeld B, Courtot M, Singh J, Dalgard CL, Hamilton T, Frey KG, Gunde-Cimerman N, Dugan L, Daly MJ.

Front Microbiol. 2018 Jan 8;8:2528. doi: 10.3389/fmicb.2017.02528. eCollection 2017.

47.

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.

Flannick J, 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 JCN, 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.

Sci Data. 2018 Jan 23;5:180002. doi: 10.1038/sdata.2018.2.

48.

A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder.

Martin J, Walters RK, Demontis D, Mattheisen M, Lee SH, Robinson E, Brikell I, Ghirardi L, Larsson H, Lichtenstein P, Eriksson N; 23andMe Research Team; Psychiatric Genomics Consortium: ADHD Subgroup; iPSYCH–Broad ADHD Workgroup, Werge T, Mortensen PB, Pedersen MG, Mors O, Nordentoft M, Hougaard DM, Bybjerg-Grauholm J, Wray NR, Franke B, Faraone SV, O'Donovan MC, Thapar A, Børglum AD, Neale BM.

Biol Psychiatry. 2018 Jun 15;83(12):1044-1053. doi: 10.1016/j.biopsych.2017.11.026. Epub 2017 Dec 2.

49.

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.

Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S, Villaverde N, Li X, Rivas M, Levine AP, Bao X, Labrias PR, Haritunians T, Ruane D, Gettler K, Chen E, Li D, Schiff ER, Pontikos N, Barzilai N, Brant SR, Bressman S, Cheifetz AS, Clark LN, Daly MJ, Desnick RJ, Duerr RH, Katz S, Lencz T, Myers RH, Ostrer H, Ozelius L, Payami H, Peter Y, Rioux JD, Segal AW, Scott WK, Silverberg MS, Vance JM, Ubarretxena-Belandia I, Foroud T, Atzmon G, Pe'er I, Ioannou Y, McGovern DPB, Yue Z, Schadt EE, Cho JH, Peter I.

Sci Transl Med. 2018 Jan 10;10(423). pii: eaai7795. doi: 10.1126/scitranslmed.aai7795.

50.

Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia.

Legge SE, Hamshere ML, Ripke S, Pardinas AF, Goldstein JI, Rees E, Richards AL, Leonenko G, Jorskog LF; Clozapine-Induced Agranulocytosis Consortium, Chambert KD, Collier DA, Genovese G, Giegling I, Holmans P, Jonasdottir A, Kirov G, McCarroll SA, MacCabe JH, Mantripragada K, Moran JL, Neale BM, Stefansson H, Rujescu D, Daly MJ, Sullivan PF, Owen MJ, O'Donovan MC, Walters JTR.

Mol Psychiatry. 2018 Jan;23(1):162-163. doi: 10.1038/mp.2017.214. Epub 2017 Oct 24.

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