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Items: 1 to 50 of 405

1.

A framework for the investigation of rare genetic disorders in neuropsychiatry.

Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE.

Nat Med. 2019 Oct;25(10):1477-1487. doi: 10.1038/s41591-019-0581-5. Epub 2019 Sep 23. Review.

PMID:
31548702
2.

Synaptic and Gene Regulatory Mechanisms in Schizophrenia, Autism, and 22q11.2 Copy Number Variant-Mediated Risk for Neuropsychiatric Disorders.

Forsyth JK, Nachun D, Gandal MJ, Geschwind DH, Anderson AE, Coppola G, Bearden CE.

Biol Psychiatry. 2019 Jul 11. pii: S0006-3223(19)31514-8. doi: 10.1016/j.biopsych.2019.06.029. [Epub ahead of print]

3.

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage.

Lee C, Kang EY, Gandal MJ, Eskin E, Geschwind DH.

Nat Neurosci. 2019 Sep;22(9):1521-1532. doi: 10.1038/s41593-019-0461-9. Epub 2019 Aug 26.

PMID:
31455884
4.

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT Jr, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Uitterlinden AGA, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossù P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y; Alzheimer Disease Genetics Consortium (ADGC); European Alzheimer’s Disease Initiative (EADI); Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE); Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, O'Donovan MC, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA.

Nat Genet. 2019 Sep;51(9):1423-1424. doi: 10.1038/s41588-019-0495-7.

PMID:
31417202
5.

Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.

Ruzzo EK, Pérez-Cano L, Jung JY, Wang LK, Kashef-Haghighi D, Hartl C, Singh C, Xu J, Hoekstra JN, Leventhal O, Leppä VM, Gandal MJ, Paskov K, Stockham N, Polioudakis D, Lowe JK, Prober DA, Geschwind DH, Wall DP.

Cell. 2019 Aug 8;178(4):850-866.e26. doi: 10.1016/j.cell.2019.07.015.

6.

A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation.

Polioudakis D, de la Torre-Ubieta L, Langerman J, Elkins AG, Shi X, Stein JL, Vuong CK, Nichterwitz S, Gevorgian M, Opland CK, Lu D, Connell W, Ruzzo EK, Lowe JK, Hadzic T, Hinz FI, Sabri S, Lowry WE, Gerstein MB, Plath K, Geschwind DH.

Neuron. 2019 Sep 4;103(5):785-801.e8. doi: 10.1016/j.neuron.2019.06.011. Epub 2019 Jul 11.

PMID:
31303374
7.

Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue.

Wong CCY, Smith RG, Hannon E, Ramaswami G, Parikshak NN, Assary E, Troakes C, Poschmann J, Schalkwyk LC, Sun W, Prabhakar S, Geschwind DH, Mill J.

Hum Mol Genet. 2019 Jul 1;28(13):2201-2211. doi: 10.1093/hmg/ddz052.

8.

CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes.

Fricano-Kugler C, Gordon A, Shin G, Gao K, Nguyen J, Berg J, Starks M, Geschwind DH.

Mol Autism. 2019 Jun 7;10:25. doi: 10.1186/s13229-019-0278-0. eCollection 2019.

9.

Publisher Correction: Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

Pardiñas AF, Holmans P, Pocklington AJ, Escott-Price V, Ripke S, Carrera N, Legge SE, Bishop S, Cameron D, Hamshere ML, Han J, Hubbard L, Lynham A, Mantripragada K, Rees E, MacCabe JH, McCarroll SA, Baune BT, Breen G, Byrne EM, Dannlowski U, Eley TC, Hayward C, Martin NG, McIntosh AM, Plomin R, Porteous DJ, Wray NR, Caballero A, Geschwind DH, Huckins LM, Ruderfer DM, Santiago E, Sklar P, Stahl EA, Won H, Agerbo E, Als TD, Andreassen OA, Bækvad-Hansen M, Mortensen PB, Pedersen CB, Børglum AD, Bybjerg-Grauholm J, Djurovic S, Durmishi N, Pedersen MG, Golimbet V, Grove J, Hougaard DM, Mattheisen M, Molden E, Mors O, Nordentoft M, Pejovic-Milovancevic M, Sigurdsson E, Silagadze T, Hansen CS, Stefansson K, Stefansson H, Steinberg S, Tosato S, Werge T; GERAD1 Consortium; CRESTAR Consortium, Collier DA, Rujescu D, Kirov G, Owen MJ, O'Donovan MC, Walters JTR.

Nat Genet. 2019 Jul;51(7):1193. doi: 10.1038/s41588-019-0450-7.

10.

Human evolved regulatory elements modulate genes involved in cortical expansion and neurodevelopmental disease susceptibility.

Won H, Huang J, Opland CK, Hartl CL, Geschwind DH.

Nat Commun. 2019 Jun 3;10(1):2396. doi: 10.1038/s41467-019-10248-3.

11.

Human Gut Microbiota from Autism Spectrum Disorder Promote Behavioral Symptoms in Mice.

Sharon G, Cruz NJ, Kang DW, Gandal MJ, Wang B, Kim YM, Zink EM, Casey CP, Taylor BC, Lane CJ, Bramer LM, Isern NG, Hoyt DW, Noecker C, Sweredoski MJ, Moradian A, Borenstein E, Jansson JK, Knight R, Metz TO, Lois C, Geschwind DH, Krajmalnik-Brown R, Mazmanian SK.

Cell. 2019 May 30;177(6):1600-1618.e17. doi: 10.1016/j.cell.2019.05.004.

12.

Reduced Prefrontal Synaptic Connectivity and Disturbed Oscillatory Population Dynamics in the CNTNAP2 Model of Autism.

Lazaro MT, Taxidis J, Shuman T, Bachmutsky I, Ikrar T, Santos R, Marcello GM, Mylavarapu A, Chandra S, Foreman A, Goli R, Tran D, Sharma N, Azhdam M, Dong H, Choe KY, Peñagarikano O, Masmanidis SC, Rácz B, Xu X, Geschwind DH, Golshani P.

Cell Rep. 2019 May 28;27(9):2567-2578.e6. doi: 10.1016/j.celrep.2019.05.006.

13.

Gyrification abnormalities in presymptomatic c9orf72 expansion carriers.

Caverzasi E, Battistella G, Chu SA, Rosen H, Zanto TP, Karydas A, Shwe W, Coppola G, Geschwind DH, Rademakers R, Miller BL, Gorno-Tempini ML, Lee SE.

J Neurol Neurosurg Psychiatry. 2019 Sep;90(9):1005-1010. doi: 10.1136/jnnp-2018-320265. Epub 2019 May 11.

14.

Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.

Chen Z, Chen JA, Shatunov A, Jones AR, Kravitz SN, Huang AY, Lawrence L, Lowe JK, Lewis CM, Payan CAM, Lieb W, Franke A, Deloukas P, Amouyel P, Tzourio C, Dartigues JF; NNIPPS and BBBIPPS Study Groups, Ludolph A, Bensimon G, Leigh PN, Bronstein JM, Coppola G, Geschwind DH, Al-Chalabi A.

Mov Disord. 2019 Jul;34(7):1049-1059. doi: 10.1002/mds.27702. Epub 2019 May 6.

PMID:
31059154
15.

Selenium Drives a Transcriptional Adaptive Program to Block Ferroptosis and Treat Stroke.

Alim I, Caulfield JT, Chen Y, Swarup V, Geschwind DH, Ivanova E, Seravalli J, Ai Y, Sansing LH, Ste Marie EJ, Hondal RJ, Mukherjee S, Cave JW, Sagdullaev BT, Karuppagounder SS, Ratan RR.

Cell. 2019 May 16;177(5):1262-1279.e25. doi: 10.1016/j.cell.2019.03.032. Epub 2019 May 2.

16.

Gene expression shifts in yellow-bellied marmots prior to natal dispersal.

Armenta TC, Cole SW, Geschwind DH, Blumstein DT, Wayne RK.

Behav Ecol. 2019 Mar-Apr;30(2):267-277. doi: 10.1093/beheco/ary175. Epub 2018 Dec 17.

PMID:
30971856
17.

Validation of two parent-reported autism spectrum disorders screening tools M-CHAT-R and SCQ in Bamako, Mali.

Sangare M, Toure HB, Toure A, Karembe A, Dolo H, Coulibaly YI, Kouyate M, Traore K, Diakité SA, Coulibaly S, Togora A, Guinto CO, Awandare GA, Doumbia S, Diakite M, Geschwind DH.

eNeurologicalSci. 2019 Mar 11;15:100188. doi: 10.1016/j.ensci.2019.100188. eCollection 2019 Jun.

18.

Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers.

Lee SE, Sias AC, Kosik EL, Flagan TM, Deng J, Chu SA, Brown JA, Vidovszky AA, Ramos EM, Gorno-Tempini ML, Karydas AM, Coppola G, Geschwind DH, Rademakers R, Boeve BF, Boxer AL, Rosen HJ, Miller BL, Seeley WW.

Neuroimage Clin. 2019;22:101751. doi: 10.1016/j.nicl.2019.101751. Epub 2019 Mar 16.

19.

Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders.

Sullivan PF, Geschwind DH.

Cell. 2019 Mar 21;177(1):162-183. doi: 10.1016/j.cell.2019.01.015. Review.

20.

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT Jr, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Andre Uitterlinden AG, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossù P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y, Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, C O'Donovan M, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA; Alzheimer Disease Genetics Consortium (ADGC),; European Alzheimer’s Disease Initiative (EADI),; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE),; Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES),.

Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2. Epub 2019 Feb 28. Erratum in: Nat Genet. 2019 Sep;51(9):1423-1424.

PMID:
30820047
21.

Identification of common genetic risk variants for autism spectrum disorder.

Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, Pallesen J, Agerbo E, Andreassen OA, Anney R, Awashti S, Belliveau R, Bettella F, Buxbaum JD, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Christensen JH, Churchhouse C, Dellenvall K, Demontis D, De Rubeis S, Devlin B, Djurovic S, Dumont AL, Goldstein JI, Hansen CS, Hauberg ME, Hollegaard MV, Hope S, Howrigan DP, Huang H, Hultman CM, Klei L, Maller J, Martin J, Martin AR, Moran JL, Nyegaard M, Nærland T, Palmer DS, Palotie A, Pedersen CB, Pedersen MG, dPoterba T, Poulsen JB, Pourcain BS, Qvist P, Rehnström K, Reichenberg A, Reichert J, Robinson EB, Roeder K, Roussos P, Saemundsen E, Sandin S, Satterstrom FK, Davey Smith G, Stefansson H, Steinberg S, Stevens CR, Sullivan PF, Turley P, Walters GB, Xu X; Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium; BUPGEN; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; 23andMe Research Team, Stefansson K, Geschwind DH, Nordentoft M, Hougaard DM, Werge T, Mors O, Mortensen PB, Neale BM, Daly MJ, Børglum AD.

Nat Genet. 2019 Mar;51(3):431-444. doi: 10.1038/s41588-019-0344-8. Epub 2019 Feb 25.

22.

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 Mar;22(3):353-361. doi: 10.1038/s41593-018-0320-0. Epub 2019 Jan 28.

23.

Reliability of human cortical organoid generation.

Yoon SJ, Elahi LS, Pașca AM, Marton RM, Gordon A, Revah O, Miura Y, Walczak EM, Holdgate GM, Fan HC, Huguenard JR, Geschwind DH, Pașca SP.

Nat Methods. 2019 Jan;16(1):75-78. doi: 10.1038/s41592-018-0255-0. Epub 2018 Dec 20.

24.

Widespread RNA editing dysregulation in brains from autistic individuals.

Tran SS, Jun HI, Bahn JH, Azghadi A, Ramaswami G, Van Nostrand EL, Nguyen TB, Hsiao YE, Lee C, Pratt GA, Martínez-Cerdeño V, Hagerman RJ, Yeo GW, Geschwind DH, Xiao X.

Nat Neurosci. 2019 Jan;22(1):25-36. doi: 10.1038/s41593-018-0287-x. Epub 2018 Dec 17.

25.

Comprehensive functional genomic resource and integrative model for the human brain.

Wang D, Liu S, Warrell J, Won H, Shi X, Navarro FCP, Clarke D, Gu M, Emani P, Yang YT, Xu M, Gandal MJ, Lou S, Zhang J, Park JJ, Yan C, Rhie SK, Manakongtreecheep K, Zhou H, Nathan A, Peters M, Mattei E, Fitzgerald D, Brunetti T, Moore J, Jiang Y, Girdhar K, Hoffman GE, Kalayci S, Gümüş ZH, Crawford GE; PsychENCODE Consortium, Roussos P, Akbarian S, Jaffe AE, White KP, Weng Z, Sestan N, Geschwind DH, Knowles JA, Gerstein MB.

Science. 2018 Dec 14;362(6420). pii: eaat8464. doi: 10.1126/science.aat8464.

26.

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder.

Gandal MJ, Zhang P, Hadjimichael E, Walker RL, Chen C, Liu S, Won H, van Bakel H, Varghese M, Wang Y, Shieh AW, Haney J, Parhami S, Belmont J, Kim M, Moran Losada P, Khan Z, Mleczko J, Xia Y, Dai R, Wang D, Yang YT, Xu M, Fish K, Hof PR, Warrell J, Fitzgerald D, White K, Jaffe AE; PsychENCODE Consortium, Peters MA, Gerstein M, Liu C, Iakoucheva LM, Pinto D, Geschwind DH.

Science. 2018 Dec 14;362(6420). pii: eaat8127. doi: 10.1126/science.aat8127.

27.

Integrative functional genomic analysis of human brain development and neuropsychiatric risks.

Li M, Santpere G, Imamura Kawasawa Y, Evgrafov OV, Gulden FO, Pochareddy S, Sunkin SM, Li Z, Shin Y, Zhu Y, Sousa AMM, Werling DM, Kitchen RR, Kang HJ, Pletikos M, Choi J, Muchnik S, Xu X, Wang D, Lorente-Galdos B, Liu S, Giusti-Rodríguez P, Won H, de Leeuw CA, Pardiñas AF; BrainSpan Consortium; PsychENCODE Consortium; PsychENCODE Developmental Subgroup, Hu M, Jin F, Li Y, Owen MJ, O'Donovan MC, Walters JTR, Posthuma D, Reimers MA, Levitt P, Weinberger DR, Hyde TM, Kleinman JE, Geschwind DH, Hawrylycz MJ, State MW, Sanders SJ, Sullivan PF, Gerstein MB, Lein ES, Knowles JA, Sestan N.

Science. 2018 Dec 14;362(6420). pii: eaat7615. doi: 10.1126/science.aat7615.

28.

Neuron-specific signatures in the chromosomal connectome associated with schizophrenia risk.

Rajarajan P, Borrman T, Liao W, Schrode N, Flaherty E, Casiño C, Powell S, Yashaswini C, LaMarca EA, Kassim B, Javidfar B, Espeso-Gil S, Li A, Won H, Geschwind DH, Ho SM, MacDonald M, Hoffman GE, Roussos P, Zhang B, Hahn CG, Weng Z, Brennand KJ, Akbarian S.

Science. 2018 Dec 14;362(6420). pii: eaat4311. doi: 10.1126/science.aat4311.

29.

Neurons selectively targeted in frontotemporal dementia reveal early stage TDP-43 pathobiology.

Nana AL, Sidhu M, Gaus SE, Hwang JL, Li L, Park Y, Kim EJ, Pasquini L, Allen IE, Rankin KP, Toller G, Kramer JH, Geschwind DH, Coppola G, Huang EJ, Grinberg LT, Miller BL, Seeley WW.

Acta Neuropathol. 2019 Jan;137(1):27-46. doi: 10.1007/s00401-018-1942-8. Epub 2018 Dec 3.

PMID:
30511086
30.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Swarup V, Hinz FI, Rexach JE, Noguchi KI, Toyoshiba H, Oda A, Hirai K, Sarkar A, Seyfried NT, Cheng C, Haggarty SJ; International Frontotemporal Dementia Genomics Consortium, Grossman M, Van Deerlin VM, Trojanowski JQ, Lah JJ, Levey AI, Kondou S, Geschwind DH.

Nat Med. 2019 Jan;25(1):152-164. doi: 10.1038/s41591-018-0223-3. Epub 2018 Dec 3.

31.

Integrative network analysis reveals biological pathways associated with Williams syndrome.

Kimura R, Swarup V, Tomiwa K, Gandal MJ, Parikshak NN, Funabiki Y, Nakata M, Awaya T, Kato T, Iida K, Okazaki S, Matsushima K, Kato T, Murai T, Heike T, Geschwind DH, Hagiwara M.

J Child Psychol Psychiatry. 2019 May;60(5):585-598. doi: 10.1111/jcpp.12999. Epub 2018 Oct 25.

32.

Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing.

Parras A, Anta H, Santos-Galindo M, Swarup V, Elorza A, Nieto-González JL, Picó S, Hernández IH, Díaz-Hernández JI, Belloc E, Rodolosse A, Parikshak NN, Peñagarikano O, Fernández-Chacón R, Irimia M, Navarro P, Geschwind DH, Méndez R, Lucas JJ.

Nature. 2018 Aug;560(7719):441-446. doi: 10.1038/s41586-018-0423-5. Epub 2018 Aug 15.

33.

Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases.

Chen JA, Chen Z, Won H, Huang AY, Lowe JK, Wojta K, Yokoyama JS, Bensimon G, Leigh PN, Payan C, Shatunov A, Jones AR, Lewis CM, Deloukas P, Amouyel P, Tzourio C, Dartigues JF, Ludolph A, Boxer AL, Bronstein JM, Al-Chalabi A, Geschwind DH, Coppola G.

Mol Neurodegener. 2018 Aug 8;13(1):41. doi: 10.1186/s13024-018-0270-8.

34.

Author Correction: Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism.

Parikshak NN, Swarup V, Belgard TG, Irimia M, Ramaswami G, Gandal MJ, Hartl C, Leppa V, de la Torre Ubieta L, Huang J, Lowe JK, Blencowe BJ, Horvath S, Geschwind DH.

Nature. 2018 Aug;560(7718):E30. doi: 10.1038/s41586-018-0295-8.

35.

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D; French PFBC study group, Oliveira JR, Garavaglia B, Coppola G, Nicolas G.

Eur J Hum Genet. 2018 Oct;26(10):1462-1477. doi: 10.1038/s41431-018-0185-4. Epub 2018 Jun 28.

36.

Sex-chromosome dosage effects on gene expression in humans.

Raznahan A, Parikshak NN, Chandran V, Blumenthal JD, Clasen LS, Alexander-Bloch AF, Zinn AR, Wangsa D, Wise J, Murphy DGM, Bolton PF, Ried T, Ross J, Giedd JN, Geschwind DH.

Proc Natl Acad Sci U S A. 2018 Jul 10;115(28):7398-7403. doi: 10.1073/pnas.1802889115. Epub 2018 Jun 26.

37.

Analysis of shared heritability in common disorders of the brain.

Brainstorm Consortium, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, 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Science. 2018 Jun 22;360(6395). pii: eaap8757. doi: 10.1126/science.aap8757.

38.

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.

39.

Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex.

Schwede M, Nagpal S, Gandal MJ, Parikshak NN, Mirnics K, Geschwind DH, Morrow EM.

J Neurodev Disord. 2018 Jun 1;10(1):18. doi: 10.1186/s11689-018-9237-x.

40.

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers.

Meeter LHH, Gendron TF, Sias AC, Jiskoot LC, Russo SP, Donker Kaat L, Papma JM, Panman JL, van der Ende EL, Dopper EG, Franzen S, Graff C, Boxer AL, Rosen HJ, Sanchez-Valle R, Galimberti D, Pijnenburg YAL, Benussi L, Ghidoni R, Borroni B, Laforce R Jr, Del Campo M, Teunissen CE, van Minkelen R, Rojas JC, Coppola G, Geschwind DH, Rademakers R, Karydas AM, Öijerstedt L, Scarpini E, Binetti G, Padovani A, Cash DM, Dick KM, Bocchetta M, Miller BL, Rohrer JD, Petrucelli L, van Swieten JC, Lee SE.

Ann Clin Transl Neurol. 2018 Apr 6;5(5):583-597. doi: 10.1002/acn3.559. eCollection 2018 May.

41.

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights.

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.

Nat Genet. 2018 Apr;50(4):538-548. doi: 10.1038/s41588-018-0092-1. Epub 2018 Apr 9.

42.

Conference Report: Psychiatric Genomics Consortium Meeting: Pathways to Drugs, London, March 2017.

Gaspar HA, Collier DA, Geschwind DH, Lewis CM, Li Q, Roth BL, Sullivan PF, Breen G.

Biol Psychiatry. 2018 Sep 15;84(6):e49-e50. doi: 10.1016/j.biopsych.2018.01.024. Epub 2018 Feb 8. No abstract available.

PMID:
29576190
43.

De novo mutations in regulatory elements in neurodevelopmental disorders.

Short PJ, McRae JF, Gallone G, Sifrim A, Won H, Geschwind DH, Wright CF, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME.

Nature. 2018 Mar 29;555(7698):611-616. doi: 10.1038/nature25983. Epub 2018 Mar 21.

44.

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.

45.

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

Pardiñas AF, Holmans P, Pocklington AJ, Escott-Price V, Ripke S, Carrera N, Legge SE, Bishop S, Cameron D, Hamshere ML, Han J, Hubbard L, Lynham A, Mantripragada K, Rees E, MacCabe JH, McCarroll SA, Baune BT, Breen G, Byrne EM, Dannlowski U, Eley TC, Hayward C, Martin NG, McIntosh AM, Plomin R, Porteous DJ, Wray NR, Caballero A, Geschwind DH, Huckins LM, Ruderfer DM, Santiago E, Sklar P, Stahl EA, Won H, Agerbo E, Als TD, Andreassen OA, Bækvad-Hansen M, Mortensen PB, Pedersen CB, Børglum AD, Bybjerg-Grauholm J, Djurovic S, Durmishi N, Pedersen MG, Golimbet V, Grove J, Hougaard DM, Mattheisen M, Molden E, Mors O, Nordentoft M, Pejovic-Milovancevic M, Sigurdsson E, Silagadze T, Hansen CS, Stefansson K, Stefansson H, Steinberg S, Tosato S, Werge T; GERAD1 Consortium; CRESTAR Consortium, Collier DA, Rujescu D, Kirov G, Owen MJ, O'Donovan MC, Walters JTR.

Nat Genet. 2018 Mar;50(3):381-389. doi: 10.1038/s41588-018-0059-2. Epub 2018 Feb 26. Erratum in: Nat Genet. 2019 Jul;51(7):1193.

46.

Preface.

Geschwind DH, Paulson HL, Klein C.

Handb Clin Neurol. 2018;148:ix-x. doi: 10.1016/B978-0-444-64076-5.09988-9. No abstract available.

PMID:
29478618
47.

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.

48.

Mechanistic Differences in Neuropathic Pain Modalities Revealed by Correlating Behavior with Global Expression Profiling.

Cobos EJ, Nickerson CA, Gao F, Chandran V, Bravo-Caparrós I, González-Cano R, Riva P, Andrews NA, Latremoliere A, Seehus CR, Perazzoli G, Nieto FR, Joller N, Painter MW, Ma CHE, Omura T, Chesler EJ, Geschwind DH, Coppola G, Rangachari M, Woolf CJ, Costigan M.

Cell Rep. 2018 Jan 30;22(5):1301-1312. doi: 10.1016/j.celrep.2018.01.006.

49.

Preface.

Geschwind DH, Paulson HL, Klein C.

Handb Clin Neurol. 2018;147:ix-x. doi: 10.1016/B978-0-444-63233-3.09988-7. No abstract available.

PMID:
29325631
50.

Evolving views of human genetic variation and its relationship to neurologic and psychiatric disease.

Geschwind DH.

Handb Clin Neurol. 2018;147:37-42. doi: 10.1016/B978-0-444-63233-3.00004-X. Review.

PMID:
29325625

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