日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits

对拷贝数变异(CNV)进行跨疾病分析,发现了新的基因位点以及基因与精神特征之间的剂量依赖性关系。

Shanta, Omar; Klein, Marieke; Sacks, Molly; MacDonald, Jeffrey R; Maihofer, Adam; Ahangari, Mohammad; Engchuan, Worrawat; Thiruvahindrapuram, Bhooma; Guevara, James; Hong, Oanh; Huguet, Guillaume; Sønderby, Ida; Kalyuzhny, Maria; Adams, Mark J; Adolfsson, Rolf; Agartz, Ingrid; Aiello, Allison E; Alda, Martin; Allardyce, Judith; Amstadter, Ananda B; Andlauer, Till F M; Andreassen, Ole A; Artigas, María S; Austin, S Bryn; Ayub, Muhammad; Baker, Dewleen G; Bass, Nick; Baune, Bernhard T; Bayas, Maximilian; Berger, Klaus; Biernacka, Joanna M; Bigdeli, Tim; Bisson, Jonathan I; Blackwood, Douglas; Boks, Marco; Braff, David; Bramon, Elvira; Breen, Gerome; Brueckl, Tanja; Bryant, Richard A; Bulik, Cynthia M; Buxbaum, Joseph; Cairns, Murray J; Caldas-de-Almeida, Jose M; Campbell, Megan; Campion, Dominique; Carr, Vaughan J; Castelao, Enrique; Chaumette, Boris; Cichon, Sven; Cohen, David; Corvin, Aiden; Craddock, Nicholas; Crosbie, Jennifer; Czamara, Darrina; Dannlowski, Udo; Degenhardt, Franziska; Delahanty, Douglas L; Dempfle, Astrid; Desachy, Guillaume; Di Florio, Arianna; Dickerson, Faith B; Djurovic, Srdjan; Domschke, Katharina; Douglas, Lisa; Drange, Ole K; Duncan, Laramie E; Edenberg, Howard J; Esko, Tonu; Faraone, Steve; Feeny, Norah C; Forstner, Andreas J; Franke, Barbara; Frye, Mark; Fu, Dong-Jing; Fullerton, Janice M; Gareeva, Anna; Garvert, Linda; Gatt, Justine M; Gejman, Pablo; Geschwind, Daniel H; Giegling, Ina; Glatt, Stephen J; Glessner, Joe; Goes, Fernando S; Gordon-Smith, Katherine; Grabe, Hans; Green, Melissa J; Green, Michael F; Greenwood, Tiffany; Grigoroiu-Serbanescu, Maria; Gur, Raquel E; Gur, Ruben C; Guzman-Parra, Jose; Haavik, Jan; Hahn, Tim; Hakonarson, Hakon; Hallmayer, Joachim; Hamshere, Marian L; Hartmann, Annette M; Hassan, Arsalan; Hayward, Caroline; Hebebrand, Johannes; Hemmings, Sian M J; Herms, Stefan; Herrera-Rivero, Marisol; Hinney, Anke; Homuth, Georg; Ingason, Andrés; Ito, Lucas T; Iwata, Nakao; Jones, Ian; Jones, Lisa A; Jonsson, Lina; Jönsson, Erik G; Kahn, René S; Karlsson, Robert; Kaufman, Milissa L; Kelsoe, John R; Kennedy, James L; King, Anthony; Kircher, Tilo; Kirov, George; Knappskog, Per; Knowles, James A; Kobayashi, Nene; Koenen, Karestan C; Konte, Bettina; Korgaonkar, Mayuresh; Kowalec, Kaarina; Krebs, Marie-Odile; Landén, Mikael; Laurent-Levinson, Claudine; Lebois, Lauren A; Levinson, Doug; Lewis, Cathryn; Li, Qingqin; Liberzon, Israel; Light, Greg; Loo, Sandra K; Lu, Yi; Lucae, Susanne; Marmar, Charles; Martin, Nicholas G; Mayoral, Fermin; McIntosh, Andrew M; McLaughlin, Katie A; McLean, Samuel A; McQuillin, Andrew; Medland, Sarah E; Meyer-Lindenberg, Andreas; Milanova, Vihra; Mitchell, Philip B; Molina, Esther; Mowry, Bryan; Muller-Myhsok, Bertram; Mullins, Niamh; Murray, Robin; Nöthen, Markus M; Nurnberger, John I; O'Connell, Kevin S; Ophoff, Roel A; Orcutt, Holly K; Owen, Michael J; Palotie, Aarno; Pato, Carlos; Pato, Michele; Pawlak, Joanna; Peters, Triinu; Petryshen, Tracey L; Pistis, Giorgio; Potash, James B; Powell, John; Preisig, Martin; Quested, Digby; Ramos-Quiroga, Josep A; Reif, Andreas; Ressler, Kerry J; Ribasés, Marta; Rietschel, Marcella; Risbrough, Victoria B; Rivera, Margarita; Rothbaum, Alex O; Rothbaum, Barbara O; Rujescu, Dan; Saito, Takeo; Sanders, Alan R; Schachar, Russell J; Schofield, Peter R; Schulte, Eva C; Schulze, Thomas G; Scott, Laura J; Seedat, Soraya; Sheerin, Christina; Shi, Jianxin; Sklar, Pamela; Smalley, Susan; Smeland, Olav B; Smoller, Jordan W; Sonuga-Barke, Edmund; Clair, David St; Steen, Nils Eiel; Stein, Dan; Stein, Frederike; Stein, Murray B; Streit, Fabian; Swerdlow, Neal; Thibaut, Florence; Thygesen, Johan H; Timerbulatov, Ilgiz; Toma, Claudio; Trapido, Edward; Tremblay, Micheline; Tsuang, Ming T; Uddin, Monica; Vawter, Marquis P; Vincent, John B; Völzke, Henry; Walters, James T; Weickert, Cynthia S; Weiss, Lauren A; Weissman, Myrna M; Werge, Thomas; Witt, Stephanie H; Xavier, Miguel; Yolken, Robert; Young, Ross M; Zayats, Tetyana; Zoellner, Lori A; Kendall, Kimberley; Riley, Brien; Wray, Naomi R; O'Donovan, Michael C; Sullivan, Patrick F; Sanchez-Roige, Sandra; Nievergelt, Caroline M; Jacquemont, Sébastien; Scherer, Stephen W; Sebat, Jonathan

Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects

精神疾病虽然在共同的通路上有所关联,但在细胞环境、空间分布和基因效应的方向性方面却存在差异。

Engchuan, Worrawat; Shanta, Omar; Kumar, Kuldeep; MacDonald, Jeffrey R; Thiruvahindrapuram, Bhooma; Hamdan, Omar; Klein, Marieke; Maihofer, Adam; Guevara, James; Hong, Oanh; Huguet, Guillaume; Sacks, Molly; Ahangari, Mohammad; Feitosa, Rayssa M M W; Han, Kara; Mendes, Marla; Zhou, Xiaopu; Bautista, Nelson X; Pellecchia, Giovanna; Wang, Zhouzhi; Merico, Daniele; Yuen, Ryan K C; Trost, Brett; Sønderby, Ida; Adams, Mark J; Adolfsson, Rolf; Agartz, Ingrid; Aiello, Allison E; Alda, Martin; Allardyce, Judith; Amstadter, Ananda B; Andlauer, Till F M; Andreassen, Ole A; Artigas, María S; Austin, S Bryn; Ayub, Muhammad; Baker, Dewleen G; Bass, Nick; Baune, Bernhard T; Bayas, Maximilian; Berger, Klaus; Biernacka, Joanna M; Bigdeli, Tim; Bisson, Jonathan I; Blackwood, Douglas; Boks, Marco; Braff, David; Bramon, Elvira; Breen, Gerome; Brueckl, Tanja; Bryant, Richard A; Bulik, Cynthia M; Buxbaum, Joseph; Cairns, Murray J; Caldas-de-Almeida, Jose M; Campbell, Megan; Campion, Dominique; Carr, Vaughan J; Castelao, Enrique; Chaumette, Boris; Cichon, Sven; Cohen, David; Corvin, Aiden; Craddock, Nicholas; Crosbie, Jennifer; Czamara, Darrina; Dannlowski, Udo; Degenhardt, Franziska; Delahanty, Douglas L; Dempfle, Astrid; Desachy, Guillaume; Di Florio, Arianna; Dickerson, Faith B; Djurovic, Srdjan; Domschke, Katharina; Douglas, Lisa; Drange, Ole K; Duncan, Laramie E; Edenberg, Howard J; Esko, Tonu; Faraone, Steve; Feeny, Norah C; Forstner, Andreas J; Franke, Barbara; Frye, Mark; Fu, Dong-Jing; Fullerton, Janice M; Gareeva, Anna; Garvert, Linda; Gatt, Justine M; Gejman, Pablo; Geschwind, Daniel H; Giegling, Ina; Glatt, Stephen J; Glessner, Joe; Goes, Fernando S; Gordon-Smith, Katherine; Grabe, Hans; Green, Melissa J; Green, Michael F; Greenwood, Tiffany; Grigoroiu-Serbanescu, Maria; Gur, Raquel E; Gur, Ruben C; Guzman-Parra, Jose; Haavik, Jan; Hahn, Tim; Hakonarson, Hakon; Hallmayer, Joachim; Hamshere, Marian L; Hartmann, Annette M; Hassan, Arsalan; Hayward, Caroline; Hebebrand, Johannes; Hemmings, Sian M J; Herms, Stefan; Herrera-Rivero, Marisol; Hinney, Anke; Homuth, Georg; Ingason, Andrés; Ito, Lucas T; Iwata, Nakao; Jones, Ian; Jones, Lisa A; Jonsson, Lina; Jönsson, Erik G; Kahn, René S; Karlsson, Robert; Kaufman, Milissa L; Kelsoe, John R; Kennedy, James L; King, Anthony; Kircher, Tilo; Kirov, George; Knappskog, Per; Knowles, James A; Kobayashi, Nene; Koenen, Karestan C; Konte, Bettina; Korgaonkar, Mayuresh; Kowalec, Kaarina; Krebs, Marie-Odile; Landén, Mikael; Laurent-Levinson, Claudine; Lebois, Lauren A; Levinson, Doug; Lewis, Cathryn; Li, Qingqin; Liberzon, Israel; Light, Greg; Loo, Sandra K; Lu, Yi; Lucae, Susanne; Marmar, Charles; Martin, Nicholas G; Mayoral, Fermin; McIntosh, Andrew M; McLaughlin, Katie A; McLean, Samuel A; McQuillin, Andrew; Medland, Sarah E; Meyer-Lindenberg, Andreas; Milanova, Vihra; Mitchell, Philip B; Molina, Esther; Mowry, Bryan; Muller-Myhsok, Bertram; Mullins, Niamh; Murray, Robin; Nöthen, Markus M; Nurnberger, John I Jr; O'Connell, Kevin S; Ophoff, Roel A; Orcutt, Holly K; Owen, Michael J; Palotie, Aarno; Pato, Carlos; Pato, Michele; Pawlak, Joanna; Peters, Triinu; Petryshen, Tracey L; Pistis, Giorgio; Potash, James B; Powell, John; Preisig, Martin; Quested, Digby; Ramos-Quiroga, Josep A; Reif, Andreas; Ressler, Kerry J; Ribasés, Marta; Rietschel, Marcella; Risbrough, Victoria B; Rivera, Margarita; Rothbaum, Alex O; Rothbaum, Barbara O; Rujescu, Dan; Saito, Takeo; Sanders, Alan R; Schachar, Russell J; Schofield, Peter R; Schulte, Eva C; Schulze, Thomas G; Scott, Laura J; Seedat, Soraya; Sheerin, Christina; Shi, Jianxin; Sklar, Pamela; Smalley, Susan; Smeland, Olav B; Smoller, Jordan W; Sonuga-Barke, Edmund; Clair, David St; Steen, Nils Eiel; Stein, Dan; Stein, Frederike; Stein, Murray B; Streit, Fabian; Swerdlow, Neal; Thibaut, Florence; Thygesen, Johan H; Timerbulatov, Ilgiz; Toma, Claudio; Trapido, Edward; Tremblay, Micheline; Tsuang, Ming T; Uddin, Monica; Vawter, Marquis P; Vincent, John B; Völzke, Henry; Walters, James T; Weickert, Cynthia S; Weiss, Lauren A; Weissman, Myrna M; Werge, Thomas; Witt, Stephanie H; Xavier, Miguel; Yolken, Robert; Young, Ross M; Zayats, Tetyana; Zoellner, Lori A; Kendall, Kimberley; Riley, Brien; Wray, Naomi R; O'Donovan, Michael C; Sullivan, Patrick F; Sanchez-Roige, Sandra; Nievergelt, Caroline M; Jacquemont, Sébastien; Scherer, Stephen W; Sebat, Jonathan

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

表观遗传标记在实践中的应用:对已发表的用于十种神经发育障碍分子诊断的表观遗传标记进行独立评估

Husson, Thomas; Lecoquierre, François; Nicolas, Gaël; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Séverine; Badens, Catherine; Bilan, Frédéric; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noëlle; Brischoux-Boucher, Elise; Bonnet, Céline; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogné, Benjamin; Colin, Estelle; Cormier-Daire, Valérie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-François; Demurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christèle; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Mélanie; Garde, Aurore; Geneviève, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Inès; Héron, Delphine; Isidor, Bertrand; Lacombe, Didier; Le Guillou Horn, Xavier; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoë; Lehalle, Daphné; Lesca, Gaëtan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godeliève; Jean-Marçais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amélie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quélin, Chloé; Quemener-Redon, Sylvia; Rama, Mélanie; Rio, Marlène; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurélien; Van Gils, Julien; Vanlerberghe, Clémence; Vantalon, Valérie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille

Heritable defects in telomere and mitotic function selectively predispose to sarcomas

端粒和有丝分裂功能的遗传缺陷选择性地易患肉瘤

Ballinger, Mandy L; Pattnaik, Swetansu; Mundra, Piyushkumar A; Zaheed, Milita; Rath, Emma; Priestley, Peter; Baber, Jonathan; Ray-Coquard, Isabelle; Isambert, Nicholas; Causeret, Sylvain; van der Graaf, Winette T A; Puri, Ajay; Duffaud, Florence; Le Cesne, Axel; Seddon, Beatrice; Chandrasekar, Coonoor; Schiffman, Joshua D; Brohl, Andrew S; James, Paul A; Kurtz, Jean-Emmanuel; Penel, Nicolas; Myklebost, Ola; Meza-Zepeda, Leonardo A; Pickett, Hilda; Kansara, Maya; Waddell, Nicola; Kondrashova, Olga; Pearson, John V; Barbour, Andrew P; Li, Shuai; Nguyen, Tuong L; Fatkin, Diane; Graham, Robert M; Giannoulatou, Eleni; Green, Melissa J; Kaplan, Warren; Ravishankar, Shyamsundar; Copty, Joseph; Powell, Joseph E; Cuppen, Edwin; van Eijk, Kristel; Veldink, Jan; Ahn, Jin-Hee; Kim, Jeong Eun; Randall, R Lor; Tucker, Kathy; Judson, Ian; Sarin, Rajiv; Ludwig, Thomas; Genin, Emmanuelle; Deleuze, Jean-Francois; Haber, Michelle; Marshall, Glenn; Cairns, Murray J; Blay, Jean-Yves; Thomas, David M; Tattersall, Martin; Neuhaus, Susan; Lewis, Craig; Tucker, Kathy; Carey-Smith, Richard; Wood, David; Porceddu, Sandro; Dickinson, Ian; Thorne, Heather; James, Paul; Ray-Coquard, Isabelle; Blay, Jean-Yves; Cassier, Philippe; Le Cesne, Axel; Duffaud, Florence; Penel, Nicolas; Isambert, Nicolas; Kurtz, Jean-Emmanuel; Puri, Ajay; Sarin, Rajiv; Ahn, Jin-Hee; Kim, Jeong Eun; Ward, Iain; Judson, Ian; van der Graaf, Winette; Seddon, Beatrice; Chandrasekar, Coonoor; Rickar, Rory; Hennig, Ivo; Schiffman, Joshua; Randall, R Lor; Silvestri, Audrey; Zaratzian, Anaiis; Tayao, Michael; Walwyn, Kelly; Niedermayr, Eveline; Mang, Denia; Clark, Richard; Thorpe, Tina; MacDonald, Jessica; Riddell, Kim; Mar, Jasmine; Fennelly, Vicki; Wicht, Allison; Zielony, Belinda; Galligan, Emma; Glavich, Genna; Stoeckert, Johanna; Williams, Lynda; Djandjgava, Lana; Buettner, Iwona; Osinki, Carla; Stephens, Sonya; Rogasik, Muriel; Bouclier, Laure; Girodet, Magali; Charreton, Amandine; Fayet, Yohan; Crasto, Saniya; Sandupatla, Bhanupriya; Yoon, Yeon; Je, Noda; Thompson, Liz; Fowler, Trent; Johnson, Bella; Petrikova, Galina; Hambridge, Thomas; Hutchins, Angela; Bottero, Diego; Scanlon, Deborah; Stokes-Denson, Jo; Génin, Emmanuelle; Campion, Dominique; Dartigues, Jean-François; Deleuze, Jean-François; Lambert, Jean-Charles; Redon, Richard; Ludwig, Thomas; Grenier-Boley, Benjamin; Letort, Sébastien; Lindenbaum, Pierre; Meyer, Vincent; Quenez, Olivier; Dina, Christian; Bellenguez, Céline; Le Clézio, Camille Charbonnier; Giemza, Joanna; Chatel, Stéphanie; Férec, Claude; Le Marec, Hervé; Letenneur, Luc; Nicolas, Gaël; Rouault, Karen

Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

由罕见蛋白质截短变异引起的精神分裂症风险在不同人群中是保守的。

Liu, Dongjing; Meyer, Dara; Fennessy, Brian; Feng, Claudia; Cheng, Esther; Johnson, Jessica S; Park, You Jeong; Rieder, Marysia-Kolbe; Ascolillo, Steven; de Pins, Agathe; Dobbyn, Amanda; Lebovitch, Dannielle; Moya, Emily; Nguyen, Tan-Hoang; Wilkins, Lillian; Hassan, Arsalan; Burdick, Katherine E; Buxbaum, Joseph D; Domenici, Enrico; Frangou, Sophia; Hartmann, Annette M; Laurent-Levinson, Claudine; Malhotra, Dheeraj; Pato, Carlos N; Pato, Michele T; Ressler, Kerry; Roussos, Panos; Rujescu, Dan; Arango, Celso; Bertolino, Alessandro; Blasi, Giuseppe; Bocchio-Chiavetto, Luisella; Campion, Dominique; Carr, Vaughan; Fullerton, Janice M; Gennarelli, Massimo; González-Peñas, Javier; Levinson, Douglas F; Mowry, Bryan; Nimgaokar, Vishwajit L; Pergola, Giulio; Rampino, Antonio; Cervilla, Jorge A; Rivera, Margarita; Schwab, Sibylle G; Wildenauer, Dieter B; Daly, Mark; Neale, Benjamin; Singh, Tarjinder; O'Donovan, Michael C; Owen, Michael J; Walters, James T; Ayub, Muhammad; Malhotra, Anil K; Lencz, Todd; Sullivan, Patrick F; Sklar, Pamela; Stahl, Eli A; Huckins, Laura M; Charney, Alexander W

Phenotype and imaging features associated with APP duplications

与APP基因重复相关的表型和影像学特征

Grangeon, Lou; Charbonnier, Camille; Zarea, Aline; Rousseau, Stephane; Rovelet-Lecrux, Anne; Bendetowicz, David; Lemaitre, Marion; Malrain, Cécile; Quillard-Muraine, Muriel; Cassinari, Kevin; Maltete, David; Pariente, Jeremie; Moreaud, Olivier; Magnin, Eloi; Cretin, Benjamin; Mackowiak, Marie-Anne; Sillaire, Adeline Rollin; Vercelletto, Martine; Dionet, Elsa; Felician, Olivier; Rod-Olivieri, Pauline; Thomas-Antérion, Catherine; Godeneche, Gaelle; Sauvée, Mathilde; Cartz-Piver, Leslie; Le Ber, Isabelle; Chauvire, Valérie; Jonveaux, Therèse; Balageas, Anna-Chloé; Laquerriere, Annie; Duyckaerts, Charles; Vital, Anne; de Paula, Andre Maues; Meyronet, David; Guyant-Marechal, Lucie; Hannequin, Didier; Tournier-Lasserve, Elisabeth; Campion, Dominique; Nicolas, Gaël; Wallon, David

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

基因组位点定位揭示了基因和突触生物学与精神分裂症的关系

Trubetskoy, Vassily; Pardiñas, Antonio F; Qi, Ting; Panagiotaropoulou, Georgia; Awasthi, Swapnil; Bigdeli, Tim B; Bryois, Julien; Chen, Chia-Yen; Dennison, Charlotte A; Hall, Lynsey S; Lam, Max; Watanabe, Kyoko; Frei, Oleksandr; Ge, Tian; Harwood, Janet C; Koopmans, Frank; Magnusson, Sigurdur; Richards, Alexander L; Sidorenko, Julia; Wu, Yang; Zeng, Jian; Grove, Jakob; Kim, Minsoo; Li, Zhiqiang; Voloudakis, Georgios; Zhang, Wen; Adams, Mark; Agartz, Ingrid; Atkinson, Elizabeth G; Agerbo, Esben; Al Eissa, Mariam; Albus, Margot; Alexander, Madeline; Alizadeh, Behrooz Z; Alptekin, Köksal; Als, Thomas D; Amin, Farooq; Arolt, Volker; Arrojo, Manuel; Athanasiu, Lavinia; Azevedo, Maria Helena; Bacanu, Silviu A; Bass, Nicholas J; Begemann, Martin; Belliveau, Richard A; Bene, Judit; Benyamin, Beben; Bergen, Sarah E; Blasi, Giuseppe; Bobes, Julio; Bonassi, Stefano; Braun, Alice; Bressan, Rodrigo Affonseca; Bromet, Evelyn J; Bruggeman, Richard; Buckley, Peter F; Buckner, Randy L; Bybjerg-Grauholm, Jonas; Cahn, Wiepke; Cairns, Murray J; Calkins, Monica E; Carr, Vaughan J; Castle, David; Catts, Stanley V; Chambert, Kimberley D; Chan, Raymond C K; Chaumette, Boris; Cheng, Wei; Cheung, Eric F C; Chong, Siow Ann; Cohen, David; Consoli, Angèle; Cordeiro, Quirino; Costas, Javier; Curtis, Charles; Davidson, Michael; Davis, Kenneth L; de Haan, Lieuwe; Degenhardt, Franziska; DeLisi, Lynn E; Demontis, Ditte; Dickerson, Faith; Dikeos, Dimitris; Dinan, Timothy; Djurovic, Srdjan; Duan, Jubao; Ducci, Giuseppe; Dudbridge, Frank; Eriksson, Johan G; Fañanás, Lourdes; Faraone, Stephen V; Fiorentino, Alessia; Forstner, Andreas; Frank, Josef; Freimer, Nelson B; Fromer, Menachem; Frustaci, Alessandra; Gadelha, Ary; Genovese, Giulio; Gershon, Elliot S; Giannitelli, Marianna; Giegling, Ina; Giusti-Rodríguez, Paola; Godard, Stephanie; Goldstein, Jacqueline I; González Peñas, Javier; González-Pinto, Ana; Gopal, Srihari; Gratten, Jacob; Green, Michael F; Greenwood, Tiffany A; Guillin, Olivier; Gülöksüz, Sinan; Gur, Raquel E; Gur, Ruben C; Gutiérrez, Blanca; Hahn, Eric; Hakonarson, Hakon; Haroutunian, Vahram; Hartmann, Annette M; Harvey, Carol; Hayward, Caroline; Henskens, Frans A; Herms, Stefan; Hoffmann, Per; Howrigan, Daniel P; Ikeda, Masashi; Iyegbe, Conrad; Joa, Inge; Julià, Antonio; Kähler, Anna K; Kam-Thong, Tony; Kamatani, Yoichiro; Karachanak-Yankova, Sena; Kebir, Oussama; Keller, Matthew C; Kelly, Brian J; Khrunin, Andrey; Kim, Sung-Wan; Klovins, Janis; Kondratiev, Nikolay; Konte, Bettina; Kraft, Julia; Kubo, Michiaki; Kučinskas, Vaidutis; Kučinskiene, Zita Ausrele; Kusumawardhani, Agung; Kuzelova-Ptackova, Hana; Landi, Stefano; Lazzeroni, Laura C; Lee, Phil H; Legge, Sophie E; Lehrer, Douglas S; Lencer, Rebecca; Lerer, Bernard; Li, Miaoxin; Lieberman, Jeffrey; Light, Gregory A; Limborska, Svetlana; Liu, Chih-Min; Lönnqvist, Jouko; Loughland, Carmel M; Lubinski, Jan; Luykx, Jurjen J; Lynham, Amy; Macek, Milan Jr; Mackinnon, Andrew; Magnusson, Patrik K E; Maher, Brion S; Maier, Wolfgang; Malaspina, Dolores; Mallet, Jacques; Marder, Stephen R; Marsal, Sara; Martin, Alicia R; Martorell, Lourdes; Mattheisen, Manuel; McCarley, Robert W; McDonald, Colm; McGrath, John J; Medeiros, Helena; Meier, Sandra; Melegh, Bela; Melle, Ingrid; Mesholam-Gately, Raquelle I; Metspalu, Andres; Michie, Patricia T; Milani, Lili; Milanova, Vihra; Mitjans, Marina; Molden, Espen; Molina, Esther; Molto, María Dolores; Mondelli, Valeria; Moreno, Carmen; Morley, Christopher P; Muntané, Gerard; Murphy, Kieran C; Myin-Germeys, Inez; Nenadić, Igor; Nestadt, Gerald; Nikitina-Zake, Liene; Noto, Cristiano; Nuechterlein, Keith H; O'Brien, Niamh Louise; O'Neill, F Anthony; Oh, Sang-Yun; Olincy, Ann; Ota, Vanessa Kiyomi; Pantelis, Christos; Papadimitriou, George N; Parellada, Mara; Paunio, Tiina; Pellegrino, Renata; Periyasamy, Sathish; Perkins, Diana O; Pfuhlmann, Bruno; Pietiläinen, Olli; Pimm, Jonathan; Porteous, David; Powell, John; Quattrone, Diego; Quested, Digby; Radant, Allen D; Rampino, Antonio; Rapaport, Mark H; Rautanen, Anna; Reichenberg, Abraham; Roe, Cheryl; Roffman, Joshua L; Roth, Julian; Rothermundt, Matthias; Rutten, Bart P F; Saker-Delye, Safaa; Salomaa, Veikko; Sanjuan, Julio; Santoro, Marcos Leite; Savitz, Adam; Schall, Ulrich; Scott, Rodney J; Seidman, Larry J; Sharp, Sally Isabel; Shi, Jianxin; Siever, Larry J; Sigurdsson, Engilbert; Sim, Kang; Skarabis, Nora; Slominsky, Petr; So, Hon-Cheong; Sobell, Janet L; Söderman, Erik; Stain, Helen J; Steen, Nils Eiel; Steixner-Kumar, Agnes A; Stögmann, Elisabeth; Stone, William S; Straub, Richard E; Streit, Fabian; Strengman, Eric; Stroup, T Scott; Subramaniam, Mythily; Sugar, Catherine A; Suvisaari, Jaana; Svrakic, Dragan M; Swerdlow, Neal R; Szatkiewicz, Jin P; Ta, Thi Minh Tam; Takahashi, Atsushi; Terao, Chikashi; Thibaut, Florence; Toncheva, Draga; Tooney, Paul A; Torretta, Silvia; Tosato, Sarah; Tura, Gian Battista; Turetsky, Bruce I; Üçok, Alp; Vaaler, Arne; van Amelsvoort, Therese; van Winkel, Ruud; Veijola, Juha; Waddington, John; Walter, Henrik; Waterreus, Anna; Webb, Bradley T; Weiser, Mark; Williams, Nigel M; Witt, Stephanie H; Wormley, Brandon K; Wu, Jing Qin; Xu, Zhida; Yolken, Robert; Zai, Clement C; Zhou, Wei; Zhu, Feng; Zimprich, Fritz; Atbaşoğlu, Eşref Cem; Ayub, Muhammad; Benner, Christian; Bertolino, Alessandro; Black, Donald W; Bray, Nicholas J; Breen, Gerome; Buccola, Nancy G; Byerley, William F; Chen, Wei J; Cloninger, C Robert; Crespo-Facorro, Benedicto; Donohoe, Gary; Freedman, Robert; Galletly, Cherrie; Gandal, Michael J; Gennarelli, Massimo; Hougaard, David M; Hwu, Hai-Gwo; Jablensky, Assen V; McCarroll, Steven A; Moran, Jennifer L; Mors, Ole; Mortensen, Preben B; Müller-Myhsok, Bertram; Neil, Amanda L; Nordentoft, Merete; Pato, Michele T; Petryshen, Tracey L; Pirinen, Matti; Pulver, Ann E; Schulze, Thomas G; Silverman, Jeremy M; Smoller, Jordan W; Stahl, Eli A; Tsuang, Debby W; Vilella, Elisabet; Wang, Shi-Heng; Xu, Shuhua; Adolfsson, Rolf; Arango, Celso; Baune, Bernhard T; Belangero, Sintia Iole; Børglum, Anders D; Braff, David; 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Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease

外显子组测序发现ATP8B4和ABCA1基因中的罕见有害变异是阿尔茨海默病风险因素。

Holstege, Henne; Hulsman, Marc; Charbonnier, Camille; Grenier-Boley, Benjamin; Quenez, Olivier; Grozeva, Detelina; van Rooij, Jeroen G J; Sims, Rebecca; Ahmad, Shahzad; Amin, Najaf; Norsworthy, Penny J; Dols-Icardo, Oriol; Hummerich, Holger; Kawalia, Amit; Amouyel, Philippe; Beecham, Gary W; Berr, Claudine; Bis, Joshua C; Boland, Anne; Bossù, Paola; Bouwman, Femke; Bras, Jose; Campion, Dominique; Cochran, J Nicholas; Daniele, Antonio; Dartigues, Jean-François; Debette, Stéphanie; Deleuze, Jean-François; Denning, Nicola; DeStefano, Anita L; Farrer, Lindsay A; Fernández, Maria Victoria; Fox, Nick C; Galimberti, Daniela; Genin, Emmanuelle; Gille, Johan J P; Le Guen, Yann; Guerreiro, Rita; Haines, Jonathan L; Holmes, Clive; Ikram, M Arfan; Ikram, M Kamran; Jansen, Iris E; Kraaij, Robert; Lathrop, Marc; Lemstra, Afina W; Lleó, Alberto; Luckcuck, Lauren; Mannens, Marcel M A M; Marshall, Rachel; Martin, Eden R; Masullo, Carlo; Mayeux, Richard; Mecocci, Patrizia; Meggy, Alun; Mol, Merel O; Morgan, Kevin; Myers, Richard M; Nacmias, Benedetta; Naj, Adam C; Napolioni, Valerio; Pasquier, Florence; Pastor, Pau; Pericak-Vance, Margaret A; Raybould, Rachel; Redon, Richard; Reinders, Marcel J T; Richard, Anne-Claire; Riedel-Heller, Steffi G; Rivadeneira, Fernando; Rousseau, Stéphane; Ryan, Natalie S; Saad, Salha; Sanchez-Juan, Pascual; Schellenberg, Gerard D; Scheltens, Philip; Schott, Jonathan M; Seripa, Davide; Seshadri, Sudha; Sie, Daoud; Sistermans, Erik A; Sorbi, Sandro; van Spaendonk, Resie; Spalletta, Gianfranco; Tesi, Niccolo'; Tijms, Betty; Uitterlinden, André G; van der Lee, Sven J; Visser, Pieter Jelle; Wagner, Michael; Wallon, David; Wang, Li-San; Zarea, Aline; Clarimon, Jordi; van Swieten, John C; Greicius, Michael D; Yokoyama, Jennifer S; Cruchaga, Carlos; Hardy, John; Ramirez, Alfredo; Mead, Simon; van der Flier, Wiesje M; van Duijn, Cornelia M; Williams, Julie; Nicolas, Gaël; Bellenguez, Céline; Lambert, Jean-Charles

Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

出版商更正:使用基于家庭的策略和按 APOE 基因型分层的方法估计 SORL1 功能缺失变异携带者阿尔茨海默病的穿透率

Schramm, Catherine; Charbonnier, Camille; Zaréa, Aline; Lacour, Morgane; Wallon, David; Boland, Anne; Deleuze, Jean-François; Olaso, Robert; Alarcon, Flora; Campion, Dominique; Nuel, Grégory; Nicolas, Gaël

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

利用基于家族的策略和APOE基因型分层方法,对SORL1功能缺失变异携带者阿尔茨海默病的穿透率进行估计

Schramm, Catherine; Charbonnier, Camille; Zaréa, Aline; Lacour, Morgane; Wallon, David; Boland, Anne; Deleuze, Jean-François; Olaso, Robert; Alarcon, Flora; Campion, Dominique; Nuel, Grégory; Nicolas, Gaël