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Mapping genomic loci implicates genes and synaptic biology in schizophrenia. Nature. 2022 04; 604(7906):502-508.
Trubetskoy V, Pardiñas AF, Qi T, Panagiotaropoulou G, Awasthi S, Bigdeli TB, Bryois J, Chen CY, Dennison CA, Hall LS, Lam M, Watanabe K, Frei O, Ge T, Harwood JC, Koopmans F, Magnusson S, Richards AL, Sidorenko J, Wu Y, Zeng J, Grove J, Kim M, Li Z, Voloudakis G, Zhang W, Adams M, Agartz I, Atkinson EG, Agerbo E, Al Eissa M, Albus M, Alexander M, Alizadeh BZ, Alptekin K, Als TD, Amin F, Arolt V, Arrojo M, Athanasiu L, Azevedo MH, Bacanu SA, Bass NJ, Begemann M, Belliveau RA, Bene J, Benyamin B, Bergen SE, Blasi G, Bobes J, Bonassi S, Braun A, Bressan RA, Bromet EJ, Bruggeman R, Buckley PF, Buckner RL, Bybjerg-Grauholm J, Cahn W, Cairns MJ, Calkins ME, Carr VJ, Castle D, Catts SV, Chambert KD, Chan RCK, Chaumette B, Cheng W, Cheung EFC, Chong SA, Cohen D, Consoli A, Cordeiro Q, Costas J, Curtis C, Davidson M, Davis KL, de Haan L, Degenhardt F, DeLisi LE, Demontis D, Dickerson F, Dikeos D, Dinan T, Djurovic S, Duan J, Ducci G, Dudbridge F, Eriksson JG, Fañanás L, Faraone SV, Fiorentino A, Forstner A, Frank J, Freimer NB, Fromer M, Frustaci A, Gadelha A, Genovese G, Gershon ES, Giannitelli M, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, González Peñas J, González-Pinto A, Gopal S, Gratten J, Green MF, Greenwood TA, Guillin O, Gülöksüz S, Gur RE, Gur RC, Gutiérrez B, Hahn E, Hakonarson H, Haroutunian V, Hartmann AM, Harvey C, Hayward C, Henskens FA, Herms S, Hoffmann P, Howrigan DP, Ikeda M, Iyegbe C, Joa I, Julià A, Kähler AK, Kam-Thong T, Kamatani Y, Karachanak-Yankova S, Kebir O, Keller MC, Kelly BJ, Khrunin A, Kim SW, Klovins J, Kondratiev N, Konte B, Kraft J, Kubo M, Kucinskas V, Kucinskiene ZA, Kusumawardhani A, Kuzelova-Ptackova H, Landi S, Lazzeroni LC, Lee PH, Legge SE, Lehrer DS, Lencer R, Lerer B, Li M, Lieberman J, Light GA, Limborska S, Liu CM, Lönnqvist J, Loughland CM, Lubinski J, Luykx JJ, Lynham A, Macek M, Mackinnon A, Magnusson PKE, Maher BS, Maier W, Malaspina D, Mallet J, Marder SR, Marsal S, Martin AR, Martorell L, Mattheisen M, McCarley RW, McDonald C, McGrath JJ, Medeiros H, Meier S, Melegh B, Melle I, Mesholam-Gately RI, Metspalu A, Michie PT, Milani L, Milanova V, Mitjans M, Molden E, Molina E, Molto MD, Mondelli V, Moreno C, Morley CP, Muntané G, Murphy KC, Myin-Germeys I, Nenadic I, Nestadt G, Nikitina-Zake L, Noto C, Nuechterlein KH, O'Brien NL, O'Neill FA, Oh SY, Olincy A, Ota VK, Pantelis C, Papadimitriou GN, Parellada M, Paunio T, Pellegrino R, Periyasamy S, Perkins DO, Pfuhlmann B, Pietiläinen O, Pimm J, Porteous D, Powell J, Quattrone D, Quested D, Radant AD, Rampino A, Rapaport MH, Rautanen A, Reichenberg A, Roe C, Roffman JL, Roth J, Rothermundt M, Rutten BPF, Saker-Delye S, Salomaa V, Sanjuan J, Santoro ML, Savitz A, Schall U, Scott RJ, Seidman LJ, Sharp SI, Shi J, Siever LJ, Sigurdsson E, Sim K, Skarabis N, Slominsky P, So HC, Sobell JL, Söderman E, Stain HJ, Steen NE, Steixner-Kumar AA, Stögmann E, Stone WS, Straub RE, Streit F, Strengman E, Stroup TS, Subramaniam M, Sugar CA, Suvisaari J, Svrakic DM, Swerdlow NR, Szatkiewicz JP, Ta TMT, Takahashi A, Terao C, Thibaut F, Toncheva D, Tooney PA, Torretta S, Tosato S, Tura GB, Turetsky BI, Üçok A, Vaaler A, van Amelsvoort T, van Winkel R, Veijola J, Waddington J, Walter H, Waterreus A, Webb BT, Weiser M, Williams NM, Witt SH, Wormley BK, Wu JQ, Xu Z, Yolken R, Zai CC, Zhou W, Zhu F, Zimprich F, Atbasoglu EC, Ayub M, Benner C, Bertolino A, Black DW, Bray NJ, Breen G, Buccola NG, Byerley WF, Chen WJ, Cloninger CR, Crespo-Facorro B, et al. PMID: 35396580; PMCID: PMC9392466.
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Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature. 2022 04; 604(7906):509-516.
Singh T, Poterba T, Curtis D, Akil H, Al Eissa M, Barchas JD, Bass N, Bigdeli TB, Breen G, Bromet EJ, Buckley PF, Bunney WE, Bybjerg-Grauholm J, Byerley WF, Chapman SB, Chen WJ, Churchhouse C, Craddock N, Cusick CM, DeLisi L, Dodge S, Escamilla MA, Eskelinen S, Fanous AH, Faraone SV, Fiorentino A, Francioli L, Gabriel SB, Gage D, Gagliano Taliun SA, Ganna A, Genovese G, Glahn DC, Grove J, Hall MH, Hämäläinen E, Heyne HO, Holi M, Hougaard DM, Howrigan DP, Huang H, Hwu HG, Kahn RS, Kang HM, Karczewski KJ, Kirov G, Knowles JA, Lee FS, Lehrer DS, Lescai F, Malaspina D, Marder SR, McCarroll SA, McIntosh AM, Medeiros H, Milani L, Morley CP, Morris DW, Mortensen PB, Myers RM, Nordentoft M, O'Brien NL, Olivares AM, Ongur D, Ouwehand WH, Palmer DS, Paunio T, Quested D, Rapaport MH, Rees E, Rollins B, Satterstrom FK, Schatzberg A, Scolnick E, Scott LJ, Sharp SI, Sklar P, Smoller JW, Sobell JL, Solomonson M, Stahl EA, Stevens CR, Suvisaari J, Tiao G, Watson SJ, Watts NA, Blackwood DH, Børglum AD, Cohen BM, Corvin AP, Esko T, Freimer NB, Glatt SJ, Hultman CM, McQuillin A, Palotie A, Pato CN, Pato MT, Pulver AE, St Clair D, Tsuang MT, Vawter MP, Walters JT, Werge TM, Ophoff RA, Sullivan PF, Owen MJ, Boehnke M, O'Donovan MC, Neale BM, Daly MJ. PMID: 35396579; PMCID: PMC9805802.
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Characterisation of age and polarity at onset in bipolar disorder. Br J Psychiatry. 2021 12; 219(6):659-669.
Kalman JL, Olde Loohuis LM, Vreeker A, McQuillin A, Stahl EA, Ruderfer D, Grigoroiu-Serbanescu M, Panagiotaropoulou G, Ripke S, Bigdeli TB, Stein F, Meller T, Meinert S, Pelin H, Streit F, Papiol S, Adams MJ, Adolfsson R, Adorjan K, Agartz I, Aminoff SR, Anderson-Schmidt H, Andreassen OA, Ardau R, Aubry JM, Balaban C, Bass N, Baune BT, Bellivier F, Benabarre A, Bengesser S, Berrettini WH, Boks MP, Bromet EJ, Brosch K, Budde M, Byerley W, Cervantes P, Chillotti C, Cichon S, Clark SR, Comes AL, Corvin A, Coryell W, Craddock N, Craig DW, Croarkin PE, Cruceanu C, Czerski PM, Dalkner N, Dannlowski U, Degenhardt F, Del Zompo M, DePaulo JR, Djurovic S, Edenberg HJ, Eissa MA, Elvsåshagen T, Etain B, Fanous AH, Fellendorf F, Fiorentino A, Forstner AJ, Frye MA, Fullerton JM, Gade K, Garnham J, Gershon E, Gill M, Goes FS, Gordon-Smith K, Grof P, Guzman-Parra J, Hahn T, Hasler R, Heilbronner M, Heilbronner U, Jamain S, Jimenez E, Jones I, Jones L, Jonsson L, Kahn RS, Kelsoe JR, Kennedy JL, Kircher T, Kirov G, Kittel-Schneider S, Klöhn-Saghatolislam F, Knowles JA, Kranz TM, Lagerberg TV, Landen M, Lawson WB, Leboyer M, Li QS, Maj M, Malaspina D, Manchia M, Mayoral F, McElroy SL, McInnis MG, McIntosh AM, Medeiros H, Melle I, Milanova V, Mitchell PB, Monteleone P, Monteleone AM, Nöthen MM, Novak T, Nurnberger JI, O'Brien N, O'Connell KS, O'Donovan C, O'Donovan MC, Opel N, Ortiz A, Owen MJ, Pålsson E, Pato C, Pato MT, Pawlak J, Pfarr JK, Pisanu C, Potash JB, Rapaport MH, Reich-Erkelenz D, Reif A, Reininghaus E, Repple J, Richard-Lepouriel H, Rietschel M, Ringwald K, Roberts G, Rouleau G, Schaupp S, Scheftner WA, Schmitt S, Schofield PR, Schubert KO, Schulte EC, Schweizer B, Senner F, Severino G, Sharp S, Slaney C, Smeland OB, Sobell JL, Squassina A, Stopkova P, Strauss J, Tortorella A, Turecki G, Twarowska-Hauser J, Veldic M, Vieta E, Vincent JB, Xu W, Zai CC, Zandi PP, Psychiatric Genomics Consortium (PGC) Bipolar Disorder Working Group, International Consortium on Lithium Genetics (ConLiGen), Colombia-US Cross Disorder Collaboration in Psychiatric Genetics, Di Florio A, Smoller JW, Biernacka JM, McMahon FJ, Alda M, Müller-Myhsok B, Koutsouleris N, Falkai P, Freimer NB, Andlauer TFM, Schulze TG, Ophoff RA. PMID: 35048876; PMCID: PMC8636611.
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Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder. Mol Psychiatry. 2021 Sep; 26(9):5251.
Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, Abecasis G, Akil H, Bergen S, Burmeister M, Chapman S, DelaBastide M, Juréus A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Zöllner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ. PMID: 33674754; PMCID: PMC9119210.
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Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nat Genet. 2021 06; 53(6):817-829.
Mullins N, Forstner AJ, O'Connell KS, Coombes B, Coleman JRI, Qiao Z, Als TD, Bigdeli TB, Børte S, Bryois J, Charney AW, Drange OK, Gandal MJ, Hagenaars SP, Ikeda M, Kamitaki N, Kim M, Krebs K, Panagiotaropoulou G, Schilder BM, Sloofman LG, Steinberg S, Trubetskoy V, Winsvold BS, Won HH, Abramova L, Adorjan K, Agerbo E, Al Eissa M, Albani D, Alliey-Rodriguez N, Anjorin A, Antilla V, Antoniou A, Awasthi S, Baek JH, Bækvad-Hansen M, Bass N, Bauer M, Beins EC, Bergen SE, Birner A, Bøcker Pedersen C, Bøen E, Boks MP, Bosch R, Brum M, Brumpton BM, Brunkhorst-Kanaan N, Budde M, Bybjerg-Grauholm J, Byerley W, Cairns M, Casas M, Cervantes P, Clarke TK, Cruceanu C, Cuellar-Barboza A, Cunningham J, Curtis D, Czerski PM, Dale AM, Dalkner N, David FS, Degenhardt F, Djurovic S, Dobbyn AL, Douzenis A, Elvsåshagen T, Escott-Price V, Ferrier IN, Fiorentino A, Foroud TM, Forty L, Frank J, Frei O, Freimer NB, Frisén L, Gade K, Garnham J, Gelernter J, Giørtz Pedersen M, Gizer IR, Gordon SD, Gordon-Smith K, Greenwood TA, Grove J, Guzman-Parra J, Ha K, Haraldsson M, Hautzinger M, Heilbronner U, Hellgren D, Herms S, Hoffmann P, Holmans PA, Huckins L, Jamain S, Johnson JS, Kalman JL, Kamatani Y, Kennedy JL, Kittel-Schneider S, Knowles JA, Kogevinas M, Koromina M, Kranz TM, Kranzler HR, Kubo M, Kupka R, Kushner SA, Lavebratt C, Lawrence J, Leber M, Lee HJ, Lee PH, Levy SE, Lewis C, Liao C, Lucae S, Lundberg M, MacIntyre DJ, Magnusson SH, Maier W, Maihofer A, Malaspina D, Maratou E, Martinsson L, Mattheisen M, McCarroll SA, McGregor NW, McGuffin P, McKay JD, Medeiros H, Medland SE, Millischer V, Montgomery GW, Moran JL, Morris DW, Mühleisen TW, O'Brien N, O'Donovan C, Olde Loohuis LM, Oruc L, Papiol S, Pardiñas AF, Perry A, Pfennig A, Porichi E, Potash JB, Quested D, Raj T, Rapaport MH, DePaulo JR, Regeer EJ, Rice JP, Rivas F, Rivera M, Roth J, Roussos P, Ruderfer DM, Sánchez-Mora C, Schulte EC, Senner F, Sharp S, Shilling PD, Sigurdsson E, Sirignano L, Slaney C, Smeland OB, Smith DJ, Sobell JL, Søholm Hansen C, Soler Artigas M, Spijker AT, Stein DJ, Strauss JS, Swiatkowska B, Terao C, Thorgeirsson TE, Toma C, Tooney P, Tsermpini EE, Vawter MP, Vedder H, Walters JTR, Witt SH, Xi S, Xu W, Yang JMK, Young AH, Young H, Zandi PP, Zhou H, Zillich L, HUNT All-In Psychiatry, Adolfsson R, Agartz I, Alda M, Alfredsson L, Babadjanova G, Backlund L, Baune BT, Bellivier F, Bengesser S, Berrettini WH, Blackwood DHR, Boehnke M, Børglum AD, Breen G, Carr VJ, Catts S, Corvin A, Craddock N, Dannlowski U, Dikeos D, Esko T, Etain B, Ferentinos P, Frye M, Fullerton JM, Gawlik M, Gershon ES, Goes FS, Green MJ, Grigoroiu-Serbanescu M, Hauser J, Henskens F, Hillert J, Hong KS, Hougaard DM, Hultman CM, Hveem K, Iwata N, Jablensky AV, Jones I, Jones LA, Kahn RS, Kelsoe JR, Kirov G, Landén M, Leboyer M, Lewis CM, Li QS, Lissowska J, Lochner C, Loughland C, Martin NG, Mathews CA, Mayoral F, McElroy SL, McIntosh AM, McMahon FJ, Melle I, Michie P, Milani L, Mitchell PB, Morken G, Mors O, Mortensen PB, Mowry B, Müller-Myhsok B, Myers RM, Neale BM, Nievergelt CM, Nordentoft M, Nöthen MM, O'Donovan MC, Oedegaard KJ, Olsson T, Owen MJ, Paciga SA, Pantelis C, Pato C, Pato MT, Patrinos GP, Perlis RH, Posthuma D, Ramos-Quiroga JA, Reif A, Reininghaus EZ, Ribasés M, Rietschel M, Ripke S, Rouleau GA, Saito T, Schall U, Schalling M, Schofield PR, Schulze TG, Scott LJ, et al. PMID: 34002096; PMCID: PMC8192451.
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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder. Mol Psychiatry. 2021 09; 26(9):5239-5250.
Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, Abecasis G, Akil H, Bergen S, Burmeister M, Chapman S, DelaBastide M, Juréus A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Zöllner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ. PMID: 33483695; PMCID: PMC8295400.
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9 Fields:
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Gene Expression in Patient-Derived Neural Progenitors Implicates WNT5A Signaling in the Etiology of Schizophrenia. Biol Psychiatry. 2020 08 01; 88(3):236-247.
Evgrafov OV, Armoskus C, Wrobel BB, Spitsyna VN, Souaiaia T, Herstein JS, Walker CP, Nguyen JD, Camarena A, Weitz JR, Kim JMH, Lopez Duarte E, Wang K, Simpson GM, Sobell JL, Medeiros H, Pato MT, Pato CN, Knowles JA. PMID: 32143829; PMCID: PMC10947993.
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14 Fields:
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Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry. Mol Psychiatry. 2020 10; 25(10):2455-2467.
Bigdeli TB, Genovese G, Georgakopoulos P, Meyers JL, Peterson RE, Iyegbe CO, Medeiros H, Valderrama J, Achtyes ED, Kotov R, Stahl EA, Abbott C, Azevedo MH, Belliveau RA, Bevilacqua E, Bromet EJ, Byerley W, Carvalho CB, Chapman SB, DeLisi LE, Dumont AL, O'Dushlaine C, Evgrafov OV, Fochtmann LJ, Gage D, Kennedy JL, Kinkead B, Macedo A, Moran JL, Morley CP, Dewan MJ, Nemesh J, Perkins DO, Purcell SM, Rakofsky JJ, Scolnick EM, Sklar BM, Sklar P, Smoller JW, Sullivan PF, Macciardi F, Marder SR, Gur RC, Gur RE, Braff DL, Consortium on the Genetics of Schizophrenia (COGS) Investigators, Nicolini H, Escamilla MA, Vawter MP, Sobell JL, Malaspina D, Lehrer DS, Buckley PF, Rapaport MH, Knowles JA, Genomic Psychiatry Cohort (GPC) Consortium, Fanous AH, Pato MT, McCarroll SA, Pato CN. PMID: 31591465; PMCID: PMC7515843.
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Genome-wide association study identifies 30 loci associated with bipolar disorder. Nat Genet. 2019 05; 51(5):793-803.
Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman JRI, Gaspar HA, de Leeuw CA, Steinberg S, Pavlides JMW, Trzaskowski M, Byrne EM, Pers TH, Holmans PA, Richards AL, Abbott L, Agerbo E, Akil H, Albani D, Alliey-Rodriguez N, Als TD, Anjorin A, Antilla V, Awasthi S, Badner JA, Bækvad-Hansen M, Barchas JD, Bass N, Bauer M, Belliveau R, Bergen SE, Pedersen CB, Bøen E, Boks MP, Boocock J, Budde M, Bunney W, Burmeister M, Bybjerg-Grauholm J, Byerley W, Casas M, Cerrato F, Cervantes P, Chambert K, Charney AW, Chen D, Churchhouse C, Clarke TK, Coryell W, Craig DW, Cruceanu C, Curtis D, Czerski PM, Dale AM, de Jong S, Degenhardt F, Del-Favero J, DePaulo JR, Djurovic S, Dobbyn AL, Dumont A, Elvsåshagen T, Escott-Price V, Fan CC, Fischer SB, Flickinger M, Foroud TM, Forty L, Frank J, Fraser C, Freimer NB, Frisén L, Gade K, Gage D, Garnham J, Giambartolomei C, Pedersen MG, Goldstein J, Gordon SD, Gordon-Smith K, Green EK, Green MJ, Greenwood TA, Grove J, Guan W, Guzman-Parra J, Hamshere ML, Hautzinger M, Heilbronner U, Herms S, Hipolito M, Hoffmann P, Holland D, Huckins L, Jamain S, Johnson JS, Juréus A, Kandaswamy R, Karlsson R, Kennedy JL, Kittel-Schneider S, Knowles JA, Kogevinas M, Koller AC, Kupka R, Lavebratt C, Lawrence J, Lawson WB, Leber M, Lee PH, Levy SE, Li JZ, Liu C, Lucae S, Maaser A, MacIntyre DJ, Mahon PB, Maier W, Martinsson L, McCarroll S, McGuffin P, McInnis MG, McKay JD, Medeiros H, Medland SE, Meng F, Milani L, Montgomery GW, Morris DW, Mühleisen TW, Mullins N, Nguyen H, Nievergelt CM, Adolfsson AN, Nwulia EA, O'Donovan C, Loohuis LMO, Ori APS, Oruc L, Ösby U, Perlis RH, Perry A, Pfennig A, Potash JB, Purcell SM, Regeer EJ, Reif A, Reinbold CS, Rice JP, Rivas F, Rivera M, Roussos P, Ruderfer DM, Ryu E, Sánchez-Mora C, Schatzberg AF, Scheftner WA, Schork NJ, Shannon Weickert C, Shehktman T, Shilling PD, Sigurdsson E, Slaney C, Smeland OB, Sobell JL, Søholm Hansen C, Spijker AT, St Clair D, Steffens M, Strauss JS, Streit F, Strohmaier J, Szelinger S, Thompson RC, Thorgeirsson TE, Treutlein J, Vedder H, Wang W, Watson SJ, Weickert TW, Witt SH, Xi S, Xu W, Young AH, Zandi P, Zhang P, Zöllner S, eQTLGen Consortium, BIOS Consortium, Adolfsson R, Agartz I, Alda M, Backlund L, Baune BT, Bellivier F, Berrettini WH, Biernacka JM, Blackwood DHR, Boehnke M, Børglum AD, Corvin A, Craddock N, Daly MJ, Dannlowski U, Esko T, Etain B, Frye M, Fullerton JM, Gershon ES, Gill M, Goes F, Grigoroiu-Serbanescu M, Hauser J, Hougaard DM, Hultman CM, Jones I, Jones LA, Kahn RS, Kirov G, Landén M, Leboyer M, Lewis CM, Li QS, Lissowska J, Martin NG, Mayoral F, McElroy SL, McIntosh AM, McMahon FJ, Melle I, Metspalu A, Mitchell PB, Morken G, Mors O, Mortensen PB, Müller-Myhsok B, Myers RM, Neale BM, Nimgaonkar V, Nordentoft M, Nöthen MM, O'Donovan MC, Oedegaard KJ, Owen MJ, Paciga SA, Pato C, Pato MT, Posthuma D, Ramos-Quiroga JA, Ribasés M, Rietschel M, Rouleau GA, Schalling M, Schofield PR, Schulze TG, Serretti A, Smoller JW, Stefansson H, Stefansson K, Stordal E, Sullivan PF, Turecki G, Vaaler AE, Vieta E, Vincent JB, Werge T, Nurnberger JI, Wray NR, Di Florio A, Edenberg HJ, Cichon S, Ophoff RA, Scott LJ, Andreassen OA, Kelsoe J, Sklar P, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium. PMID: 31043756; PMCID: PMC6956732.
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Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts. Biol Psychiatry. 2019 06 15; 85(12):1065-1073.
Zhang X, Abdellaoui A, Rucker J, de Jong S, Potash JB, Weissman MM, Shi J, Knowles JA, Pato C, Pato M, Sobell J, Smit JH, Hottenga JJ, de Geus EJC, Lewis CM, Buttenschøn HN, Craddock N, Jones I, Jones L, McGuffin P, Mors O, Owen MJ, Preisig M, Rietschel M, Rice JP, Rivera M, Uher R, Gejman PV, Sanders AR, Boomsma D, Penninx BWJH, Breen G, Levinson DF. PMID: 31003785; PMCID: PMC6750266.
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Contribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Cases. Biol Psychiatry. 2019 07 15; 86(2):110-119.
Charney AW, Stahl EA, Green EK, Chen CY, Moran JL, Chambert K, Belliveau RA, Forty L, Gordon-Smith K, Lee PH, Bromet EJ, Buckley PF, Escamilla MA, Fanous AH, Fochtmann LJ, Lehrer DS, Malaspina D, Marder SR, Morley CP, Nicolini H, Perkins DO, Rakofsky JJ, Rapaport MH, Medeiros H, Sobell JL, Backlund L, Bergen SE, Juréus A, Schalling M, Lichtenstein P, Knowles JA, Burdick KE, Jones I, Jones LA, Hultman CM, Perlis R, Purcell SM, McCarroll SA, Pato CN, Pato MT, Di Florio A, Craddock N, Landén M, Smoller JW, Ruderfer DM, Sklar P. PMID: 30686506; PMCID: PMC6586545.
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Evidence for genetic heterogeneity between clinical subtypes of bipolar disorder. Transl Psychiatry. 2017 01 10; 7(1):e993.
Charney AW, Ruderfer DM, Stahl EA, Moran JL, Chambert K, Belliveau RA, Forty L, Gordon-Smith K, Di Florio A, Lee PH, Bromet EJ, Buckley PF, Escamilla MA, Fanous AH, Fochtmann LJ, Lehrer DS, Malaspina D, Marder SR, Morley CP, Nicolini H, Perkins DO, Rakofsky JJ, Rapaport MH, Medeiros H, Sobell JL, Green EK, Backlund L, Bergen SE, Juréus A, Schalling M, Lichtenstein P, Roussos P, Knowles JA, Jones I, Jones LA, Hultman CM, Perlis RH, Purcell SM, McCarroll SA, Pato CN, Pato MT, Craddock N, Landén M, Smoller JW, Sklar P. PMID: 28072414; PMCID: PMC5545718.
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Association of DNA Methylation Differences With Schizophrenia in an Epigenome-Wide Association Study. JAMA Psychiatry. 2016 05 01; 73(5):506-14.
Montano C, Taub MA, Jaffe A, Briem E, Feinberg JI, Trygvadottir R, Idrizi A, Runarsson A, Berndsen B, Gur RC, Moore TM, Perry RT, Fugman D, Sabunciyan S, Yolken RH, Hyde TM, Kleinman JE, Sobell JL, Pato CN, Pato MT, Go RC, Nimgaonkar V, Weinberger DR, Braff D, Gur RE, Fallin MD, Feinberg AP. PMID: 27074206; PMCID: PMC6353566.
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88 Fields:
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HumansCells
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LINE1 insertions as a genomic risk factor for schizophrenia: Preliminary evidence from an affected family. Am J Med Genet B Neuropsychiatr Genet. 2016 06; 171(4):534-45.
Guffanti G, Gaudi S, Klengel T, Fallon JH, Mangalam H, Madduri R, Rodriguez A, DeCrescenzo P, Glovienka E, Sobell J, Klengel C, Pato M, Ressler KJ, Pato C, Macciardi F. PMID: 26990047.
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18 Fields:
Translation:
HumansCells
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Substance use associated with short sleep duration in patients with schizophrenia or schizoaffective disorder. Am J Med Genet B Neuropsychiatr Genet. 2016 06; 171(4):525-33.
Tang VK, Pato MT, Sobell JL, Hammond TC, Valdez MM, Lane CJ, Genomic Psychiatry Cohort Consortium, Pato CN. PMID: 26345478.
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2 Fields:
Translation:
Humans
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Traumatic brain injury and bipolar psychosis in the Genomic Psychiatry Cohort. Am J Med Genet B Neuropsychiatr Genet. 2016 06; 171(4):506-12.
Cieslak K, Pato M, Buckley P, Pato C, Sobell JL, Medeiros H, Zhao Y, Ahn H, Genomic Psychiatry Cohort Consortium, Malaspina D. PMID: 26224022.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Paternal age effect: Replication in schizophrenia with intriguing dissociation between bipolar with and without psychosis. Am J Med Genet B Neuropsychiatr Genet. 2016 06; 171(4):495-505.
Lehrer DS, Pato MT, Nahhas RW, Miller BR, Malaspina D, Buckley PF, Sobell JL, Walsh-Messinger J, Pato CN. PMID: 26183902.
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5 Fields:
Translation:
Humans
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Comorbidity of severe psychotic disorders with measures of substance use. JAMA Psychiatry. 2014 Mar; 71(3):248-54.
Hartz SM, Pato CN, Medeiros H, Cavazos-Rehg P, Sobell JL, Knowles JA, Bierut LJ, Pato MT, Genomic Psychiatry Cohort Consortium. PMID: 24382686; PMCID: PMC4060740.
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PubMed Mentions:
129 Fields:
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Humans
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Transposable elements and psychiatric disorders. Am J Med Genet B Neuropsychiatr Genet. 2014 Apr; 165B(3):201-16.
Guffanti G, Gaudi S, Fallon JH, Sobell J, Potkin SG, Pato C, Macciardi F. PMID: 24585726.
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23 Fields:
Translation:
HumansAnimalsCells
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The genomic psychiatry cohort: partners in discovery. Am J Med Genet B Neuropsychiatr Genet. 2013 Jun; 162B(4):306-12.
Pato MT, Sobell JL, Medeiros H, Abbott C, Sklar BM, Buckley PF, Bromet EJ, Escamilla MA, Fanous AH, Lehrer DS, Macciardi F, Malaspina D, McCarroll SA, Marder SR, Moran J, Morley CP, Nicolini H, Perkins DO, Purcell SM, Rapaport MH, Sklar P, Smoller JW, Knowles JA, Genomic Psychiatry Cohort Consortium, Pato CN. PMID: 23650244; PMCID: PMC3729260.
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PubMed Mentions:
39 Fields:
Translation:
Humans
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A system architecture for sharing de-identified, research-ready brain scans and health information across clinical imaging centers. Stud Health Technol Inform. 2012; 175:19-28.
Chervenak AL, van Erp TG, Kesselman C, D'Arcy M, Sobell J, Keator D, Dahm L, Murry J, Law M, Hasso A, Ames J, Macciardi F, Potkin SG. PMID: 22941984; PMCID: PMC4478050.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samples. Biol Psychiatry. 2006 Jul 15; 60(2):152-62.
Talkowski ME, Seltman H, Bassett AS, Brzustowicz LM, Chen X, Chowdari KV, Collier DA, Cordeiro Q, Corvin AP, Deshpande SN, Egan MF, Gill M, Kendler KS, Kirov G, Heston LL, Levitt P, Lewis DA, Li T, Mirnics K, Morris DW, Norton N, O'Donovan MC, Owen MJ, Richard C, Semwal P, Sobell JL, St Clair D, Straub RE, Thelma BK, Vallada H, Weinberger DR, Williams NM, Wood J, Zhang F, Devlin B, Nimgaonkar VL. PMID: 16631129; PMCID: PMC3133764.
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PubMed Mentions:
27 Fields:
Translation:
Humans
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Failure to confirm association between RGS4 haplotypes and schizophrenia in Caucasians. Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 05; 139B(1):23-7.
Sobell JL, Richard C, Wirshing DA, Heston LL. PMID: 16082709.
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11 Fields:
Translation:
Humans
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Multiple missense mutations in the diazepam binding inhibitor (DBI) gene identified in schizophrenia but lack of disease association. Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15; 125B(1):10-9.
Niu N, Rice SR, Heston LL, Sobell JL. PMID: 14755437.
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PubMed Mentions:
3 Fields:
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Humans
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Genetics and etiopathophysiology of schizophrenia. Mayo Clin Proc. 2002 Oct; 77(10):1068-82.
Sobell JL, Mikesell MJ, McMurray CT. PMID: 12374251.
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3 Fields:
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Humans
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Alteration of branch site consensus sequence and enhanced pre-mRNA splicing of an NMDAR1 intron not associated with schizophrenia. Am J Med Genet. 2002 Aug 08; 114(6):631-6.
Hammond L, Castanotto D, Rice SR, Nimgaonkar VL, Wirshing DA, Rossi JJ, Heston LL, Sobell JL. PMID: 12210277.
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HumansCells
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Identification of single nucleotide polymorphisms (SNPs) and other sequence changes and estimation of nucleotide diversity in coding and flanking regions of the NMDAR1 receptor gene in schizophrenic patients. Mol Psychiatry. 2001 May; 6(3):274-84.
Rice SR, Niu N, Berman DB, Heston LL, Sobell JL. PMID: 11326295.
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PubMed Mentions:
9 Fields:
Translation:
Humans
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Histamine N-methyltransferase functional polymorphism: lack of association with schizophrenia. Am J Med Genet. 2000 Jun 12; 96(3):404-6.
Yan L, Szumlanski CL, Rice SR, Sobell JL, Lachman HM, Weinshilboum RM. PMID: 10898922.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Variants in the alpha2A AR adrenergic receptor gene in psychiatric patients. Am J Med Genet. 1998 Sep 07; 81(5):405-10.
Feng J, Sobell JL, Heston LL, Goldman D, Cook E, Kranzler HR, Gelernter J, Sommer SS. PMID: 9754626.
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PubMed Mentions:
2 Fields:
Translation:
HumansAnimals
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Scanning of the dopamine D1 and D5 receptor genes by REF in neuropsychiatric patients reveals a novel missense change at a highly conserved amino acid. Am J Med Genet. 1998 Mar 28; 81(2):172-8.
Feng J, Sobell JL, Heston LL, Cook EH, Goldman D, Sommer SS. PMID: 9613858.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Gly(247)-->Asp proenkephalin A mutation is rare in schizophrenia populations. Am J Med Genet. 1997 Apr 18; 74(2):213-5.
Mikesell MJ, Barron YD, Nimgaonkar VL, Sobell JL, Sommer SS, McMurray CT. PMID: 9129728.
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Humans
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Screening the monoamine oxidase B gene in 100 male patients with schizophrenia: a cluster of polymorphisms in African-Americans but lack of functionally significant sequence changes. Am J Med Genet. 1997 Feb 21; 74(1):44-9.
Sobell JL, Lind TJ, Hebrink DD, Heston LL, Sommer SS. PMID: 9034005.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Identification of a missense mutation and several polymorphisms in the proenkephalin A gene of schizophrenic patients. Am J Med Genet. 1996 Sep 20; 67(5):459-67.
Mikesell MJ, Sobell JL, Sommer SS, McMurray CT. PMID: 8886162.
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Genotype-to-phenotype analysis: search for clinical characteristics of a missense change in the GABAA-beta 1 receptor gene. Am J Med Genet. 1996 Feb 16; 67(1):81-4.
Sobell JL, Sigurdson DC, Heston LL, Byerley WF, Sommer SS. PMID: 8678120.
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Humans
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Screening the dopamine D1 receptor gene in 131 schizophrenics and eight alcoholics: identification of polymorphisms but lack of functionally significant sequence changes. Am J Med Genet. 1995 Apr 24; 60(2):165-71.
Liu Q, Sobell JL, Heston LL, Sommer SS. PMID: 7485254.
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PubMed Mentions:
4 Fields:
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HumansCells
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The D5 dopamine receptor gene in schizophrenia: identification of a nonsense change and multiple missense changes but lack of association with disease. Hum Mol Genet. 1995 Apr; 4(4):507-14.
Sobell JL, Lind TJ, Sigurdson DC, Zald DH, Snitz BE, Grove WM, Heston LL, Sommer SS. PMID: 7633397.
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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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S311C D2DR variant: no association with schizophrenia. Lancet. 1994 Aug 27; 344(8922):621-2.
Sobell J, Sigurdson DC, Heston L, Sommer S. PMID: 7914994.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia. Am J Med Genet. 1994 Mar 15; 54(1):12-20.
Coon H, Sobell J, Heston L, Sommer S, Hoff M, Holik J, Umar F, Robertson M, Reimherr F, Wender P, et al. PMID: 8178835.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Screening the dystrophin gene suggests a high rate of polymorphism in general but no exonic deletions in schizophrenics. Am J Med Genet. 1994 Mar 15; 54(1):1-4.
Lindor NM, Sobell JL, Heston LL, Thibodeau SN, Sommer SS. PMID: 7909988.
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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A common exonic polymorphism in the human D5 dopamine receptor gene. Hum Genet. 1993 Dec; 92(6):633-4.
Sommer SS, Sobell JL, Heston LL. PMID: 8262527.
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2 Fields:
Translation:
HumansCells
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APP mutations and schizophrenia. Biol Psychiatry. 1993 Nov 15; 34(10):739-40.
Arnholt JC, Sobell JL, Heston LL, Sommer SS. PMID: 8292675.
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Humans
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Dopamine D4 receptor variants in unrelated schizophrenic cases and controls. Am J Med Genet. 1993 Jul 15; 48(2):90-3.
Sommer SS, Lind TJ, Heston LL, Sobell JL. PMID: 8103294.
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PubMed Mentions:
9 Fields:
Translation:
HumansCells
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Novel association approach for determining the genetic predisposition to schizophrenia: case-control resource and testing of a candidate gene. Am J Med Genet. 1993 May 01; 48(1):28-35.
Sobell JL, Heston LL, Sommer SS. PMID: 8357034.
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PubMed Mentions:
13 Fields:
Translation:
HumansCells
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Eight novel polymorphisms in the dystrophin gene of African-Americans: the rate of polymorphism is high. Hum Mutat. 1993; 2(6):485-8.
Lindor NM, Sommer SS, Sobell J, Heston L, Thibodeau SN. PMID: 7906594.
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Delineation of genetic predisposition to multifactorial disease: a general approach on the threshold of feasibility. Genomics. 1992 Jan; 12(1):1-6.
Sobell JL, Heston LL, Sommer SS. PMID: 1733846.
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PubMed Mentions:
12 Fields:
Translation:
HumansAnimals
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Direct sequencing of the dopamine D2 receptor (DRD2) in schizophrenics reveals three polymorphisms but no structural change in the receptor. Genomics. 1991 Sep; 11(1):8-14.
Sarkar G, Kapelner S, Grandy DK, Marchionni M, Civelli O, Sobell J, Heston L, Sommer SS. PMID: 1837284.
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PubMed Mentions:
15 Fields:
Translation:
HumansCells
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A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria. Mayo Clin Proc. 1989 Nov; 64(11):1361-72.
Sommer SS, Cassady JD, Sobell JL, Bottema CD. PMID: 2687596.
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PubMed Mentions:
27 Fields:
Translation:
HumansCells
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Application of DNA-based diagnosis to patient care: the example of hemophilia A. Mayo Clin Proc. 1987 May; 62(5):387-404.
Sommer SS, Sobell JL. PMID: 3553754.
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PubMed Mentions:
2 Fields:
Translation:
Humans