Selected Recent Publications

Stanley Center Publications

Below are selected publications related to key areas of interest to Stanley Center investigators, including: Genetics, Neurobiology, and Clinical Research.

Genetics

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 (2018). Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science 362(6420).

Barbano AC, van der Mei WF, Bryant RA, Delahanty DL, deRoon-Cassini TA, Matsuoka YJ, Olff M, Qi W, Ratanatharathorn A, Schnyder U, Seedat S, Kessler RC, Koenen KC, Shalev AY. Clinical implications of the proposed ICD-11 PTSD diagnostic criteria. Psychol Med. 2018.

Bergen SE, Ploner A, Howrigan D; CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium, O'Donovan MC, Smoller JW, Sullivan PF, Sebat J, Neale B, Kendler KS. Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia. Am J Psychiatry. 2018 Nov 5:appiajp201817040467.

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 (2018). Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes. Cell. 173(7):1705-1715.

Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimäki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Vardarajan B, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X; Alzheimer’s Disease Sequencing Project, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M, Farrer LA. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2018 Aug 14.

Bove RM, Patrick E, Aubin CM, Srivastava G, Schneider JA, Bennett DA, De Jager PL, Chibnik LB. Reproductive period and epigenetic modifications of the oxidative phosphorylation pathway in the human prefrontal cortex. PLoS One. 2018 Jul 27;13(7):e0199073.

Brainstorm Consortium, Anttila V, et al. Analysis of shared heritability in common disorders of the brain. Science. 2018 Jun 22;360(6395).

Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR (2018). Reply to 'Selective effects of heterozygous protein-truncating variants'. Nature Genetics. 51(1):3-4.

Choi KW, Shaffer KM, Zale EL, Funes CJ, Koenen KC, Tehan T, Rosand J, Vranceanu AM. Early Risk and Resiliency Factors Predict Chronic Posttraumatic Stress Disorder in Caregivers of Patients Admitted to a Neuroscience ICU. Crit Care Med. 2018; 46: 713-9.

Chou PH, Koenen KC. Associations between childhood maltreatment and risk of myocardial infarction in adulthood: Results from the National Epidemiologic Survey on alcohol and Related Conditions. J Psychiatr Res. 2018.

Crookes DM, Demmer RT, Keyes KM, Koenen KC, Suglia SF. Depressive Symptoms, Antidepressant Use, and Hypertension in Young Adulthood. Epidemiology. 2018.

de Menil V, Hoogenhout M, Kipkemoi P, Kamuya D, Eastman E, Galvin A, Mwangasha K, de Vries J, Kariuki SM, Murugasen S, Mwangi P, Singh I, Stein DJ, Abubakar A, Newton CR, Donald KA, Robinson E. The NeuroDev Study: Phenotypic and Genetic Characterization of Neurodevelopmental Disorders in Kenya and South Africa. Neuron. 2019 Jan 2;101(1):15-19.

DeBoever C, Tanigawa Y, Lindholm ME, McInnes G, Lavertu A, Ingelsson E, Chang C, Ashley EA, Bustamante CD, Daly MJ, Rivas MA (2018). Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. Nature Communications. 9(1):1612.

Deming Y, Dumitrescu L, Barnes LL, Thambisetty M, Kunkle B, Gifford KA, Bush WS, Chibnik LB, Mukherjee S, De Jager PL, Kukull W, Huentelman M, Crane PK, Resnick SM, Keene CD, Montine TJ, Schellenberg GD, Haines JL, Zetterberg H, Blennow K, Larson EB, Johnson SC, Albert M, Moghekar A, Del Aguila JL, Fernandez MV, Budde J, Hassenstab J, Fagan AM, Riemenschneider M, Petersen RC, Minthon L, Chao MJ, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Peskind ER, Li G, Davis LK, Sealock JM, Cox NJ; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetics Consortium (ADGC), Goate AM, Bennett DA, Schneider JA, Jefferson AL, Cruchaga C, Hohman TJ. Sex-specific genetic predictors of Alzheimer's disease biomarkers. Acta Neuropathol. 2018 Dec;136(6):857-872.

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 (2018). Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nature Genetics. 51(1):63-75.

Denckla CA, Mancini AD, Consedine NS, Milanovic SM, Basu A, Seedat S, Spies G, Henderson DC, Bonanno GA, Koenen KC. Distinguishing postpartum and antepartum depressive trajectories in a large population-based cohort: the impact of exposure to adversity and offspring gender. Psychol Med. 2018; 48: 1139-47.

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. Phenome-wide association studies across large population cohorts support drug target validation. Nat Commun.. 2018 Oct 16;9(1):4285.

Duncan LE, Ratanatharathorn A, Aiello AE, Almli LM, Amstadter AB, Ashley-Koch AE, Baker DG, Beckham JC, Bierut LJ, Bisson J, Bradley B, Chen CY, Dalvie S, Farrer LA, Galea S, Garrett ME, Gelernter JE, Guffanti G, Hauser MA, Johnson EO, Kessler RC, Kimbrel NA, King A, Koen N, Kranzler HR, Logue MW, Maihofer AX, Martin AR, Miller MW, Morey RA, Nugent NR, Rice JP, Ripke S, Roberts AL, Saccone NL, Smoller JW, Stein DJ, Stein MB, Sumner JA, Uddin M, Ursano RJ, Wildman DE, Yehuda R, Zhao H, Daly MJ, Liberzon I, Ressler KJ, Nievergelt CM, Koenen KC. Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability. Mol Psychiatry. 2018; 23: 666-73.

Evans LM, Tahmasbi R, Vrieze SI, Abecasis GR, Das S, Gazal S, Bjelland DW, de Candia TR; Haplotype Reference Consortium, Goddard ME, Neale BM, Yang J, Visscher PM, Keller MC. Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits. Nat Genet. 2018 May;50(5):737-745.

Finucane HK, Reshef YA, Anttila V, Slowikowski K, Gusev A, Byrnes A, Gazal S, Loh PR, Lareau C, Shoresh N, Genovese G, Saunders A, Macosko E, Pollack S; Brainstorm Consortium, Perry JRB, Buenrostro JD, Bernstein BE, Raychaudhuri S, McCarroll S, Neale BM, Price AL. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. Nat Genet. 2018 Apr;50(4):621-629.

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. Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. Am J Hum Genet. 2018 Jun 7;102(6):1204-1211.

Gazal S, Loh PR, Finucane HK, Ganna A, Schoech A, Sunyaev S, Price AL. Functional architecture of low-frequency variants highlights strength of negative selection across coding and noncoding annotations. Nat Genet. 2018 Nov;50(11):1600-1607.

Gelaye B, Koenen KC. The Intergenerational Impact of Prenatal Stress: Time to Focus on Prevention? Biol Psychiatry. 2018; 83: 92-3.

Gormley P, Kurki M I, Hiekkala M E, Veerapen K, Häppölä P, Mitchell A A, Lal D, Palta P, Surakka I, Kaunisto M A, Hämäläinen E, Vepsäläinen S, Havanka H, Harno H, Ilmavirta M, Nissilä M, Säkö E, Sumelahti M.-L. , Liukkonen J, Sillanpää M, Metsähonkala L, Koskinen S, Lehtimäki T, Raitakari O, Männikkö M, Ran C, Belin A C, Jousilahti P, Anttila V, Salomaa V, Artto V, Färkkilä M, and Me Research Team, 24 International Headache Genetics Consortium (IHGC), Runz H, Daly M J, Neale B M, Ripatti S, Kallela M, Wessman M, and Palotie A. Common variant burden contributes to the familial aggregation of migraine in 1,589 families. Neuron. 2018 Sep 5;99(5):1098.

Gusev A, Mancuso N, Won H, Kousi M, Finucane HK, Reshef Y, Song L, Safi A; Schizophrenia Working Group of the Psychiatric Genomics Consortium, McCarroll S, Neale BM, Ophoff RA, O'Donovan MC, Crawford GE, Geschwind DH, Katsanis N, Sullivan PF, Pasaniuc B, Price AL. Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights. Nat Genet. 2018 Apr;50(4):538-548.

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. De novo variants in neurodevelopmental disorders with epilepsy. Nat Genet. 2018 Jun 25.

Hiekkala ME, Vuola P, Artto V, Häppölä P, Häppölä E, Vepsäläinen S, Cuenca-León E, Lal D, Gormley P, Hämäläinen E, Ilmavirta M, Nissilä M, Säkö E, Sumelahti ML, Harno H, Havanka H, Keski-Säntti P, Färkkilä M, Palotie A, Wessman M, Kaunisto MA, Kallela M. The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families. Cephalalgia. 2018 Jan 1:333102418761041.

Hohman TJ, Dumitrescu L, Barnes LL, Thambisetty M, Beecham G, Kunkle B, Gifford KA, Bush WS, Chibnik LB, Mukherjee S, De Jager PL, Kukull W, Crane PK, Resnick SM, Keene CD, Montine TJ, Schellenberg GD, Haines JL, Zetterberg H, Blennow K, Larson EB, Johnson SC, Albert M, Bennett DA, Schneider JA, Jefferson AL; Alzheimer’s Disease Genetics Consortium and the Alzheimer’s Disease Neuroimaging Initiative. Sex-Specific Association of Apolipoprotein E With Cerebrospinal Fluid Levels of Tau. JAMA Neurol. 2018 Aug 1;75(8):989-998.

Hormozdiari F, Gazal S, van de Geijn B, Finucane HK, Ju CJ, Loh PR, Schoech A, Reshef Y, Liu X, O'Connor L, Gusev A, Eskin E, Price AL. Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits. Nat Genet. 2018 Jul;50(7):1041-1047.

Huckins LM, Hatzikotoulas K, Southam L, Thornton LM, Steinberg J, Aguilera-McKay F, Treasure J, Schmidt U, Gunasinghe C, Romero A, Curtis C, Rhodes D, Moens J, Kalsi G, Dempster D, Leung R, Keohane A, Burghardt R, Ehrlich S, Hebebrand J, Hinney A, Ludolph A, Walton E, Deloukas P, Hofman A, Palotie A, Palta P, van Rooij FJA, Stirrups K, Adan R, Boni C, Cone R, Dedoussis G, van Furth E, Gonidakis F, Gorwood P, Hudson J, Kaprio J, Kas M, Keski-Rahonen A, Kiezebrink K, Knudsen GP; MCT Slof-Op ’t Landt, Maj M, Monteleone AM, Monteleone P, Raevuori AH, Reichborn-Kjennerud T, Tozzi F, Tsitsika A, van Elburg A; Eating Disorder Working Group of the Psychiatric Genomics Consortium, Collier DA, Sullivan PF, Breen G, Bulik CM, Zeggini E. Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa. Mol Psychiatry. 2018 May;23(5):1169-1180.

Jung SJ, Kang JH, Roberts AL, Nishimi K, Chen Q, Sumner JA, Kubzansky L, Koenen KC. Posttraumatic stress disorder and incidence of thyroid dysfunction in women. Psychol Med. 2018.

Jung SJ, Roberts AL, Chocano-Bedoya P, Whitcomb BW, Missmer SA, Manson JE, Hankinson SE, Bertone-Johnson ER, Koenen KC. Posttraumatic stress disorder and development of premenstrual syndrome in a longitudinal cohort of women. Arch Womens Ment Health. 2018.

Kong, C, Singh, I. The ethics of global psychiatric genomics: Multilayered challenges to integrating genomics in global mental health and disability—A position paper of the Oxford Global Initiative in Neuropsychiatric GenEthics (NeuroGenE) Am J Med Genet Part B. 2018 Dec 6. 

Kurki M, Saarentaus E, Pietiläinen O,Hämäläinen E, Gormley P, Torniainen-Holm M ,Salomaa V, Lal D, Kerminen S, Pirinen M, Suvisaari J, Rahikkala E, Keski-Filppula R, Rauhala M, Korpi-Heikkilä S, Komulainen–Ebrahim J, Helander H, Vieira P, Moilanen J S , Körkkö J, Kuismin O, Daly M J, Palotie A. Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland. Nat Commun. 2019 Jan 24;10(1):410.

Lal D, Palotie A. Genetics Sheds New Light on Congenital Hydrocephalus Biology. Neuron. 2018 Jul 25;99(2):246-247.

Lam M, Trampush JW, Yu J, Knowles E, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Chiba-Falek O, Attix DK, Need AC, Cirulli ET, Voineskos AN, Stefanis NC, Avramopoulos D, Hatzimanolis A, Arking DE, Smyrnis N, Bilder RM, Freimer NA, Cannon TD, London E, Poldrack RA, Sabb FW, Congdon E, Conley ED, Scult MA, Dickinson D, Straub RE, Donohoe G, Morris D, Corvin A, Gill M, Hariri AR, Weinberger DR, Pendleton N, Bitsios P, Rujescu D, Lahti J, Hellard SL, Keller MC, Andreassen OA, Glahn DC, Malhotra AK, Lencz T. Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018). Twin Res Hum Genet. 2018 Jul 13:1-4.

Lam, M, et al. Comparative genetic architectures of schizophrenia in East Asian and European populations. bioRxiv Oct. 18, 2018

Li H, Bloom JM, Farjoun Y, Fleharty M, Gauthier L, Neale B, MacArthur D. A synthetic-diploid benchmark for accurate variant calling evaluation. Nat Methods. 2018 Aug;15(8):595-597.

Loh PR, Kichaev G, Gazal S, Schoech AP, Price AL. Mixed-model association for biobank-scale datasets. Nat Genet. 2018 Jul;50(7):906-908.

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. Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland. Am J Hum Genet. 2018 May 3;102(5):760-775.

Martin AR, Teferra S, Möller M, Hoal EG, Daly MJ (2018). The critical needs and challenges for genetic architecture studies in Africa. Curr Opin Genet Dev. 2018 Dec;53:113-120.

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. A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder. Biol Psychiatry. 2018 Jun 15;83(12):1044-1053.

Meyers JL, Sartor CE, Werner KB, Koenen KC, Grant BF, Hasin D. Childhood interpersonal violence and adult alcohol, cannabis, and tobacco use disorders: variation by race/ethnicity? Psychol Med. 2018; 9: 1-11.

Mostafavi S, Gaiteri C, Sullivan SE, White CC, Tasaki S, Xu J, Taga M, Klein HU, Patrick E, Komashko V, McCabe C, Smith R, Bradshaw EM, Root DE, Regev A, Yu L, Chibnik LB, Schneider JA, Young-Pearse TL, Bennett DA, De Jager PL. A molecular network of the aging human brain provides insights into the pathology and cognitive decline of Alzheimer's disease. Nat Neurosci. 2018 Jun;21(6):811-819.

Ni G, Gratten J, Wray NR, Lee SH; Schizophrenia Working Group of the Psychiatric Genomics Consortium (2018). Age at first birth in women is genetically associated with increased risk of schizophrenia. Science Reporter. 8(1):10168.

Ni G, Moser G; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Wray NR, Lee SH (2018). Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood. American Journal Human Genetics pii: S0002-9297(18)30110-1.

Niestroj LM, Du J, Nothnagel M, May P, Palotie A, Daly MJ, Nürnberg P, Blümcke I, Lal D. Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia. 2018 Oct 20.

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 (2018). 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. Lancet Psychiatry. 5(7):573-580.

Osborne MT, Ishai A, Hammad B, Tung B, Wang Y, Baruch A, Fayad ZA, Giles JT, Lo J, Shin LM, Grinspoon SK, Koenen KC, Pitman RK, Tawakol A. Amygdalar activity predicts future incident diabetes independently of adiposity. Psychoneuroendocrinology. 2018; 100: 32-40.

Pereira JL, Guedes-Carneiro GM, Netto LR, Cavalcanti-Ribeiro P, Lira S, Nogueira JF, Teles CA, Koenen KC, Sampaio AS, Quarantini LC. Types of Trauma, Posttraumatic Stress Disorder, and Academic Performance in a Population of University Students. J Nerv Ment Dis. 2018; 206: 507-12.

Pettersson E, Lichtenstein P, Larsson H, Song J; Attention Deficit/Hyperactivity Disorder Working Group of the iPSYCHBroad- 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. 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. Psychol Med. 2018 Sep 17:1-8.

Regier AA, Farjoun Y, Larson DE, Krasheninina O, Kang HM, Howrigan DP, Chen BJ, Kher M, Banks E, Ames DC, English AC, Li H, Xing J, Zhang Y, Matise T, Abecasis GR, Salerno W, Zody MC, Neale BM, Hall IM. Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nat Commun. 2018 Oct 2;9(1):4038.

Reshef YA, Finucane HK, Kelley DR, Gusev A, Kotliar D, Ulirsch JC, Hormozdiari F, Nasser J, O'Connor L, van de Geijn B, Loh PR, Grossman SR, Bhatia G, Gazal S, Palamara PF, Pinello L, Patterson N, Adams RP, Price AL. Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk. Nat Genet. 2018 Oct;50(10):1483-1493.

Rosellini AJ, Liu H, Petukhova MV, Sampson NA, Aguilar-Gaxiola S, Alonso J, Borges G, Bruffaerts R, Bromet EJ, de Girolamo G, de Jonge P, Fayyad J, Florescu S, Gureje O, Haro JM, Hinkov H, Karam EG, Kawakami N, Koenen KC, Lee S, Lepine JP, Levinson D, Navarro-Mateu F, Oladeji BD, O'Neill S, Pennell BE, Piazza M, Posada-Villa J, Scott KM, Stein DJ, Torres Y, Viana MC, Zaslavsky AM, Kessler RC. Recovery from DSM-IV post-traumatic stress disorder in the WHO World Mental Health surveys. Psychological medicine. 2018; 48: 437-50.

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Scott KM, Koenen KC, King A, Petukhova MV, Alonso J, Bromet EJ, Bruffaerts R, Bunting B, de Jonge P, Haro JM, Karam EG, Lee S, Medina-Mora ME, Navarro-Mateu F, Sampson NA, Shahly V, Stein DJ, Torres Y, Zaslavsky AM, Kessler RC. Post-traumatic stress disorder associated with sexual assault among women in the WHO World Mental Health Surveys. Psychol Med. 2018; 48: 155-67.

Smith RG, Hannon E, De Jager PL, Chibnik L, Lott SJ, Condliffe D, Smith AR, Haroutunian V, Troakes C, Al-Sarraj S, Bennett DA, Powell J, Lovestone S, Schalkwyk L, Mill J, Lunnon K. Elevated DNA methylation across a 48-kb region spanning the HOXA gene cluster is associated with Alzheimer's disease neuropathology. Alzheimers Dement. 2018 Dec;14(12):1580-1588.

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Stevenson A, Akena D, Stroud RE, Atwoli L, Campbell MM, Chibnik LB, Kwobah E, Kariuki SM, Martin AR, de Menil V, Newton CRJC, Sibeko G, Stein DJ, Teferra S, Zingela Z, Koenen KC. Neuropsychiatric Genetics of African Populations-Psychosis (NeuroGAP-Psychosis): a case-control study protocol and GWAS in Ethiopia, Kenya, South Africa and Uganda. BMJ Open. 2019;9:e025469

Sumner JA, Chen Q, Roberts AL, Winning A, Rimm EB, Gilsanz P, Glymour MM, Tworoger SS, Koenen KC, Kubzansky LD. Posttraumatic stress disorder onset and inflammatory and endothelial function biomarkers in women. Brain Behav Immun. 2018; 69: 203-9.

Turley P, Walters RK, Maghzian O, Okbay A, Lee JJ, Fontana MA, Nguyen-Viet TA, Wedow R, Zacher M, Furlotte NA, Magnusson P, Oskarsson S, Johannesson M, Visscher PM, Laibson D, Cesarini D, Neale BM, Benjamin DJ; 23andMe Research Team.; Social Science Genetic Association Consortium. Multi-trait analysis of genome-wide association summary statistics using MTAG. Nat Genet. 2018 Feb;50(2):229-237.

Uddin M, Ratanatharathorn A, Armstrong D, Kuan PF, Aiello AE, Bromet EJ, Galea S, Koenen KC, Luft B, Ressler KJ, Wildman DE, Nievergelt CM, Smith A. Epigenetic meta-analysis across three civilian cohorts identifies NRG1 and HGS as blood-based biomarkers for post-traumatic stress disorder. Epigenomics. 2018 Dec;10(12):1585-1601.

van der Merwe, C, Mwesiga, EK, McGregor NW, Ejigu A, Tilahun AW, Kalungi A, Akimana B, Dubale BW, Omari F, Mmochi J, Majara L, Ongeri L, Alemayehu M, Koen N, Dalvie S, Kariuki SM, Hoogenhout M. (2018) Advancing neuropsychiatric genetics training and collaboration in Africa. Lancet Global Health 6:PE246-E247

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 (2018). Genetic risk for schizophrenia and autism, social impairment and developmental pathways to psychosis. Translational Psychiatry. 8(1):204.

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Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM; Tourette International Collaborative Genetics Study (TIC Genetics).; Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE).; Tourette Association of America International Consortium for Genetics (TAAICG), Fernandez TV, Buxbaum JD, De Rubeis S, Grice DE, Xing J, Heiman GA, Tischfield JA, Paschou P, Willsey AJ, State MW. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Rep. 2018 Sep 25;24(13):3441-3454.e12.

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Winsvold BS, Palta P, Eising E, Page CM; International Headache Genetics Consortium, van den Maagdenberg AM, Palotie A, Zwart JA. Epigenetic DNA methylation changes associated with headache chronification: A retrospective case-control study. Cephalalgia. 2018 Feb;38(2):312-322.

Wolf EJ, Maniates H, Nugent N, Maihofer AX, Armstrong D, Ratanatharathorn A, Ashley-Koch AE, Garrett M, Kimbrel NA, Lori A, Va Mid-Atlantic Mirecc W, Aiello AE, Baker DG, Beckham JC, Boks MP, Galea S, Geuze E, Hauser MA, Kessler RC, Koenen KC, Miller MW, Ressler KJ, Risbrough V, Rutten BPF, Stein MB, Ursano RJ, Vermetten E, Vinkers CH, Uddin M, Smith AK, Nievergelt CM, Logue MW. Traumatic stress and accelerated DNA methylation age: A meta-analysis. Psychoneuroendocrinology. 2018; 92: 123-34.

Yang HS, Yu L, White CC, Chibnik LB, Chhatwal JP, Sperling RA, Bennett DA, Schneider JA, De Jager PL. Evaluation of TDP-43 proteinopathy and hippocampal sclerosis in relation to APOE ε4 haplotype status: a community-based cohort study. Lancet Neurol. 2018 Sep;17(9):773-781.

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. Molecular genetic overlap between migraine and major depressive disorder. Eur J of Hum Genet. 2018 Aug;26(8):1202-121.

Zeiler FA, McFadyen C, Newcombe V, Synnot A, Donoghue EL, Ripatti S, Steyerberg EW, Gruen RL, McAllister T, Rosand J, Palotie A, Maas A, Menon D. Genetic Influences on Patient Oriented Outcomes in TBI: A Living Systematic Review of Non-APOE Single Nucleotide Polymorphisms. J Neurotrauma. 2018 May 25.

Zhang S, Samocha KE, Rivas MA, Karczewski KJ, Daly E, Schmandt B, Neale BM, MacArthur DG, Daly MJ. Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides. Genome Res. 2018 Jul;28(7):968-974.

Duncan LE, Ratanatharathorn A, Aiello AE, Almli LM, Amstadter AB, Ashley-Koch AE, Baker DG, Beckham JC, Bierut LJ, Bisson J, Bradley B, Chen CY, Dalvie S, Farrer LA, Galea S, Garrett ME, Gelernter JE, Guffanti G, Hauser MA, Johnson EO, Kessler RC, Kimbrel NA, King A, Koen N, Kranzler HR, Logue MW, Maihofer AX, Martin AR, Miller MW, Morey RA, Nugent NR, Rice JP, Ripke S, Roberts AL, Saccone NL, Smoller JW, Stein DJ, Stein MB, Sumner JA, Uddin M, Ursano RJ, Wildman DE, Yehuda R, Zhao H, Daly MJ, Liberzon I, Ressler KJ, Nievergelt CM, Koenen KC. Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability. Mol Psychiatry. 2018;23(3):666-673.

Pedersen CB, Bybjerg-Grauholm J, Pedersen MG, Grove J, Agerbo E, Bækvad-Hansen M, Poulsen JB, Hansen CS, McGrath JJ, Als TD, Goldstein JI, Neale BM, Daly MJ, Hougaard DM, Mors O, Nordentoft M, Børglum AD, Werge T, Mortensen PB. The iPSYCH2012 case-cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders. Mol Psychiatry. 2018;23(1):6-14.

St Pourcain B, Robinson EB, Anttila V, Sullivan BB, Maller J, Golding J, Skuse D, Ring S, Evans DM, Zammit S, Fisher SE, Neale BM, Anney RJL, Ripke S, Hollegaard MV, Werge T; iPSYCH-SSI-Broad Autism Group, Ronald A, Grove J, Hougaard DM, Børglum AD, Mortensen PB, Daly MJ, Davey Smith G. ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties. Mol Psychiatry. 2018;23(2):263-270.

Turley P, Walters RK, Maghzian O, Okbay A, Lee JJ, Fontana MA, Nguyen-Viet TA, Wedow R, Zacher M, Furlotte NA, Magnusson P, Oskarsson S, Johannesson M, Visscher PM, Laibson D, Cesarini D, Neale BM, Benjamin DJ; 23andMe Research Team; Social Science Genetic Association Consortium. Multi-trait analysis of genome-wide association summary statistics using MTAG. Nat Genet. 2018;50(2):229-237.

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. 2018;17(1):49-55.

Finucane HK, Reshef YA, Anttila V, et al. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. Nat Genet. 2018;50(4):621-629.

 

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Arlotta P. Organoids required! A new path to understanding human brain development and disease. Nat Methods. 2018 Jan 3;15(1):27-29.

Banghart MR, He XJ, Sabatini BL. A Caged Enkephalin Optimized for Simultaneously Probing Mu and Delta Opioid Receptors. ACS Chemical Neuroscience. 2018;9 (4) :684-690.

Bedbrook CN, Deverman BE, Gradinaru V. Viral Strategies for Targeting the Central and Peripheral Nervous Systems. Annu Rev Neurosci. 2018 Jul 8;41:323-348.

Bell AD, Usher CL, McCarroll SA. Analyzing Copy Number Variation with Droplet Digital PCR. Methods Mol Biol. 2018;1768:143-160.

Benkler C, O’Neil AL, Slepian S, Qian F, Weinreb PH, Rubin LL ( co-first authors). Aggregated SOD1 causes selective death of cultured human motor neurons. Sci Rep. 2018; 8:16393.

Brown J, Quadrato G, Arlotta P. Studying the Brain in a Dish: 3D Cell Culture Models of Human Brain Development and Disease. Curr Top Dev Biol. 2018;129:99-122.

Burns ME, Stevens B. Report on the National Eye Institute's Audacious Goals Initiative: Creating a Cellular Environment for Neuroregeneration. eNeuro. 2018 Apr 18;5(2). pii: ENEURO.0035-18.2018.

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Giera S, Luo R, Ying Y, Ackerman SD, Jeong SJ, Stoveken HM, Folts CJ, Welsh CA, Tall GG, Stevens B, Monk KR, Piao X. Microglial transglutaminase-2 drives myelination and myelin repair via GPR56/ADGRG1 in oligodendrocyte precursor cells. eLife. 2018 May 29;7. pii: e33385.

Godbole G, Shetty AS, Roy A, D'Souza L, Chen B, Miyoshi G, Fishell G, Tole S. Hierarchical genetic interactions between FOXG1 and LHX2 regulate the formation of the cortical hem in the developing telencephalon. Development. 2018 Jan 9:145(1).

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Hammond TR, Robinton D, Stevens B. Microglia and the Brain: Complementary Partners in Development and Disease. Annu Rev Cell Dev Biol. 2018 Oct 6;34:523-544.

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Markowitz JE, Gillis WF, Beron CC, Neufeld SQ, Robertson K, Bhagat ND, Peterson RE, Peterson E, Hyun M, Linderman SW, Sabatini BL, Datta SR. The Striatum Organizes 3D Behavior via Moment-to-Moment Action Selection. Cell. 2018;174 (1): 44-58.

Mayer C, Fishell G. Developing neurons are innately inclined to learn on the job. Nature. 2018 Aug;560(7716):39-40.

Mayer C, Hafemeister C, Bandler RC, Machold R, Batista Brito R, Jaglin X, Allaway K, Butler A, Fishell G, Satija R. Developmental diversification of cortical inhibitory interneurons. Nature. 2018 Mar 22; 555(7697):415-462.

Monteiro P, Barak B, Zhou Y, McRae R, Rodrigues D, Wickersham IR, Feng G. (2018) Dichotomous parvalbumin interneuron populations in dorsolateral and dorsomedial striatum. J Physiol. 596:3695-3707.

Mordes DA, Prudencio M, Goodman LD, Klim JR, Moccia R, Limone F, Pietilainen O, Chowdhary K, Dickson DW, Rademakers R, Bonini NM, Petrucelli L, Eggan K. 10.1186/s40478-018-0555-8Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients. Acta neuropathologica communications. 2018; 6(1):55.

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Ozek C, Krolewski RC, Buchanan SM, Rubin LL. Growth Differentiation Factor 11 treatment leads to neuronal and vascular improvements in the hippocampus of aged mice. Sci Rep. 2018; 8:17293.

Paik EJ, O’Neil AL, Ng S-Y, Sun C, Rubin LL ( Co-first authors). Using Intracellular Markers to Identify a Novel Set of Surface Markers for Live Cell Purification from a Heterogeneous hIPSC Culture. Sci Rep.2018; 8:804.

Piatkevich KD, Jung EE, Straub C, Linghu C, Park D, Suk HJ, Hochbaum DR, Goodwin D, Pnevmatikakis E, Pak N, et al. A robotic multidimensional directed evolution approach applied to fluorescent voltage reporters. Nature Chemical Biology. 2018;14 (4) :352-360.

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Priya R, Paredes MF, Karayannis T, Yusuf N, Liu X, Jaglin X, Graef I, Alvarez-Buylla A, Fishell G. Activity Regulates Cell Death within Cortical Interneurons through a Calcineurin-Dependent Mechanism. Cell Rep. 2018 Feb 13;22(7):1695-1709.

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Clinical and Therapeutics

Adiconis X, Haber AL, Simmons SK, Levy Moonshine A, Ji Z, Busby MA, Shi X, Jacques J, Lancaster MA,Pan JQ, Regev A, Levin JZ. Comprehensive comparative analysis of 5'-end RNA-sequencing methods. Nat Methods. 2018 Jul;15(7):505-511.

Pan JQ, Baez-Nieto D, Allen A, Wang HR, Cottrell JR. Developing High-Throughput Assays to Analyze and Screen Electrophysiological Phenotypes. Methods Mol Biol. 2018;1787:235-252.

Porter NJ, Wagner FF, Christianson DW. Entropy as a Driver of Selectivity for Inhibitor Binding to Histone Deacetylase 6. Biochemistry.2018 Jul 3;57(26):3916-3924.

Sanders SJ, Campbell AJ, Cottrell JR, Moller RS, Wagner FF, Auldridge AL, Bernier RA, Catterall WA, Chung WK, Empfield JR, George AL Jr, Hipp JF, Khwaja O, Kiskinis E, Lal D, Malhotra D, Millichap JJ, Otis TS, Petrou S, Pitt G, Schust LF, Taylor CM, Tjernagel J, Spiro JE, Bender KJ. Progress in Understanding and Treating SCN2A-Mediated Disorders. Trends Neurosci. 2018 Jul;41(7):442-456.

Tekin H, Simmons S, Cummings B, Gao L, Adiconis X, Hession CC, Ghoshal A, Dionne D, Choudhury SR, Yesilyurt V, Sanjana NE, Shi X, Lu C, Heidenreich M,Pan JQ, Levin JZ, Zhang F. Effects of 3D culturing conditions on the transcriptomic profile of stem-cell-derived neurons. Nat Biomed Eng. 2018 Jul;2(7):540-554.

Wagner FF, Benajiba L, Campbell AJ, Weïwer M, Sacher JR, Gale JP, Ross L, Puissant A, Alexe G, Conway A, Back M, Pikman Y, Galinsky I, DeAngelo DJ, Stone RM, Kaya T, Shi X, Robers MB, Machleidt T, Wilkinson J, Hermine O, Kung A, Stein AJ, Lakshminarasimhan D, Hemann MT, Scolnick E, Zhang YL, Pan JQ, Stegmaier K, Holson EB. Exploiting an Asp-Glu switch in glycogen synthase kinase 3 to design paralog-selective inhibitors for use in acute myeloid leukemia. Sci Transl Med. 2018 Mar 7;10(431). pii: eaam8460.

Weïwer M, Xu Q, Gale JP, Lewis M, Campbell AJ, Schroeder FA, Van de Bittner GC, Walk M, Amaya A, Su P, D Ordevic L, Sacher JR, Skepner A, Fei D, Dennehy K, Nguyen S, Faloon PW, Perez J, Cottrell JR, Liu F, Palmer M, Pan JQ, Hooker JM, Zhang YL, Scolnick E, Wagner FF, Holson EB. Functionally Biased D2R Antagonists: Targeting the β-Arrestin Pathway to Improve Antipsychotic Treatment. ACS Chem Biol. 2018 Apr 20;13(4):1038-1047.