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

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease

疾病突变的结构域定位揭示了阿尔茨海默病中的致病性SORL1变异

Andersen, Olav M; de Waal, Matthijs W J; Monti, Giulia; Tesi, Niccolo; Jensen, Anne Mette G; de Geus, Christa; van Spaendonk, Rosalina; Vogel, Maartje; Ahmad, Shahzad; Amin, Najaf; Amouyel, Philippe; Beecham, Gary W; Bellenguez, Céline; Berr, Claudine; Bis, Joshua C; Boland, Anne; Bossù, Paola; Bouwman, Femke; Bras, Jose; Charbonnier, Camille; Clarimon, Jordi; Cruchaga, Carlos; Daniele, Antonio; Dartigues, Jean-François; Debette, Stéphanie; Deleuze, Jean-François; Denning, Nicola; DeStefano, Anita L; Dols-Icardo, Oriol; van Duijn, Cornelia M; Farrer, Lindsay A; Fernández, Maria Victoria; van der Flier, Wiesje M; Fox, Nick C; Galimberti, Daniela; Genin, Emmanuelle; Gille, Johan J P; Grenier-Boley, Benjamin; Grozeva, Detelina; Guen, Yann Le; Guerreiro, Rita; Haines, Jonathan L; Holmes, Clive; Hummerich, Holger; Arfan Ikram, M; Kamran Ikram, M; Kawalia, Amit; Kraaij, Robert; Lambert, Jean-Charles; Lathrop, Marc; Lemstra, Afina W; Lleó, Alberto; Myers, Richard M; Mannens, Marcel M A M; Marshall, Rachel; Martin, Eden R; Masullo, Carlo; Mayeux, Richard; Mead, Simon; Mecocci, Patrizia; Meggy, Alun; Mol, Merel O; Nacmias, Benedetta; Naj, Adam C; Napolioni, Valerio; Nicholas Cochran, J; Nicolas, Gaël; Pasquier, Florence; Pastor, Pau; Pericak-Vance, Margaret A; Pijnenburg, Yolande A L; Piras, Fabrizio; Quenez, Olivier; Ramirez, Alfredo; Raybould, Rachel; Redon, Richard; Reinders, Marcel J T; Richard, Anne-Claire; Riedel-Heller, Steffi G; Rivadeneira, Fernando; van Rooij, Jeroen G J; Rousseau, Stéphane; Ryan, Natalie S; Sanchez-Juan, Pascual; Schellenberg, Gerard D; Scheltens, Philip; Schott, Jonathan M; Seshadri, Sudha; Sie, Daoud; Sims, Rebecca; Sistermans, Erik A; Sorbi, Sandro; van Swieten, John C; Tijms, Betty; Uitterlinden, André G; Visser, Pieter Jelle; Wagner, Michael; Wallon, David; Wang, Li-San; Williams, Julie; Yokoyama, Jennifer S; Zarea, Aline; van der Lee, Sven J; Olsen, Johan G; Hulsman, Marc; Holstege, Henne

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications

RRP12 变异与常染色体隐性遗传性脑钙化有关

Monfrini, Edoardo; Rinchetti, Paola; Anheim, Mathieu; Klingseisen, Anna; Lagha-Boukbiza, Ouhaid; Cen, Zhidong; Yang, Dehao; Chen, Xinhui; Maroofian, Reza; Houlden, Henry; Cappelletti, Gioia; Richard, Anne-Claire; Quenez, Olivier; Toro, Camilo; Frucht, Steven J; Lotti, Francesco; Luo, Wei; Hunt, David; Nicolas, Gael; Riboldi, Giulietta M

Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling

全基因组单倍型新生突变中的亲本生殖系嵌合现象:复发风险评估及其对精准遗传咨询的意义

Lecoquierre, François; Drouot, Nathalie; Coutant, Sophie; Quenez, Olivier; Fourneaux, Steeve; Jumeau, Fanny; Rives, Nathalie; Charbonnier, Françoise; Derambure, Céline; Boland, Anne; Olaso, Robert; Meyer, Vincent; Deleuze, Jean-François; Goldenberg, Alice; Guerrot, Anne-Marie; Charbonnier, Camille; Nicolas, Gaël

Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing Analysis

利用简单、经济、高通量的RNA剪接分析弥合遗传性癌症诊断差距

Amiot, Julie; Levacher, Corentin; Thibaut, Louise May; Lienard, Gwendoline; Vasseur, Stéphanie; Quenez, Olivier; Coutant, Sophie; Fourneaux, Steeve; Charbonnier, Françoise; Thorn, Hugo; Legros, Angélina; Aucouturier, Camille; Castéra, Laurent; Leman, Raphaël; Kasper, Edwige; Baert-Desurmont, Stéphanie; Krieger, Sophie; Ruminy, Philippe; Houdayer, Claude

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

NAA60双等位基因变异导致N端乙酰化能力受损,从而引起常染色体隐性遗传性原发性家族性脑钙化。

Viorica Chelban #,Henriette Aksnes #,Reza Maroofian,Lauren C LaMonica,Luis Seabra,Anette Siggervåg,Perrine Devic,Hanan E Shamseldin,Jana Vandrovcova,David Murphy,Anne-Claire Richard,Olivier Quenez,Antoine Bonnevalle,M Natalia Zanetti,Rauan Kaiyrzhanov  ,Vincenzo Salpietro,Stephanie Efthymiou,Lucia V Schottlaender    ,Heba Morsy  ,Annarita Scardamaglia,Ambreen Tariq,Alistair T Pagnamenta,Ajia Pennavaria,Liv S Krogstad,Åse K Bekkelund,Alessia Caiella,Nina Glomnes  ,Kirsten M Brønstad,Sandrine Tury,Andrés Moreno De Luca  0 ,Anne Boland-Auge,Robert Olaso,Jean-François Deleuze,Mathieu Anheim    ,Benjamin Cretin    ,Barbara Vona  ,Fahad Alajlan,Firdous Abdulwahab,Jean-Luc Battini,Rojan İpek,Peter Bauer,Giovanni Zifarelli,Serdal Gungor,Semra Hiz Kurul,Hanns Lochmuller    ,Sahar I Da'as  ,Khalid A Fakhro    ,Alicia Gómez-Pascual,Juan A Botía,Nicholas W Wood  0 ,Rita Horvath,Andreas M Ernst  ,James E Rothman  ,Meriel McEntagart,Yanick J Crow  ,Fowzan S Alkuraya  ,Gaël Nicolas  ; SYNaPS Study Group; Thomas Arnesen  ,Henry Houlden

Upstream open reading frame-introducing variants in patients with primary familial brain calcification

原发性家族性脑钙化患者的上游开放阅读框引入变异

Rovelet-Lecrux, Anne; Bonnevalle, Antoine; Quenez, Olivier; Delcroix, Wandrille; Cassinari, Kévin; Richard, Anne-Claire; Boland, Anne; Deleuze, Jean-François; Goizet, Cyril; Rucar, Alice; Verny, Christophe; Nguyen, Karine; Lecourtois, Magalie; Nicolas, Gaël

Input of exome sequencing in early-onset cerebral amyloid angiopathy

外显子组测序在早发性脑淀粉样血管病中的应用

Grangeon, Lou; Charbonnier, Camille; Rousseau, Stéphane; Richard, Anne Claire; Quenez, Olivier; Zarea, Aline; Boland, Anne; Olaso, Robert; Deleuze, Jean-François; Tournier-Lasserve, Elisabeth; Nicolas, Gael; Wallon, David

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

Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

作者更正:阿尔茨海默病常见变异及基于多基因风险评分的风险分层

de Rojas, Itziar; Moreno-Grau, Sonia; Tesi, Niccolo; Grenier-Boley, Benjamin; Andrade, Victor; Jansen, Iris E; Pedersen, Nancy L; Stringa, Najada; Zettergren, Anna; Hernández, Isabel; Montrreal, Laura; Antúnez, Carmen; Antonell, Anna; Tankard, Rick M; Bis, Joshua C; Sims, Rebecca; Bellenguez, Céline; Quintela, Inés; González-Perez, Antonio; Calero, Miguel; Franco-Macías, Emilio; Macías, Juan; Blesa, Rafael; Cervera-Carles, Laura; Menéndez-González, Manuel; Frank-García, Ana; Royo, Jose Luís; Moreno, Fermin; Huerto Vilas, Raquel; Baquero, Miquel; Diez-Fairen, Mónica; Lage, Carmen; García-Madrona, Sebastián; García-González, Pablo; Alarcón-Martín, Emilio; Valero, Sergi; Sotolongo-Grau, Oscar; Ullgren, Abbe; Naj, Adam C; Lemstra, Afina W; Benaque, Alba; Pérez-Cordón, Alba; Benussi, Alberto; Rábano, Alberto; Padovani, Alessandro; Squassina, Alessio; de Mendonça, Alexandre; Arias Pastor, Alfonso; Kok, Almar A L; Meggy, Alun; Pastor, Ana Belén; Espinosa, Ana; Corma-Gómez, Anaïs; Martín Montes, Angel; Sanabria, Ángela; DeStefano, Anita L; Schneider, Anja; Haapasalo, Annakaisa; Kinhult Ståhlbom, Anne; Tybjærg-Hansen, Anne; Hartmann, Annette M; Spottke, Annika; Corbatón-Anchuelo, Arturo; Rongve, Arvid; Borroni, Barbara; Arosio, Beatrice; Nacmias, Benedetta; Nordestgaard, Børge G; Kunkle, Brian W; Charbonnier, Camille; Abdelnour, Carla; Masullo, Carlo; Martínez Rodríguez, Carmen; Muñoz-Fernandez, Carmen; Dufouil, Carole; Graff, Caroline; Ferreira, Catarina B; Chillotti, Caterina; Reynolds, Chandra A; Fenoglio, Chiara; Van Broeckhoven, Christine; Clark, Christopher; Pisanu, Claudia; Satizabal, Claudia L; Holmes, Clive; Buiza-Rueda, Dolores; Aarsland, Dag; Rujescu, Dan; Alcolea, Daniel; Galimberti, Daniela; Wallon, David; Seripa, Davide; Grünblatt, Edna; Dardiotis, Efthimios; Düzel, Emrah; Scarpini, Elio; Conti, Elisa; Rubino, Elisa; Gelpi, Ellen; Rodriguez-Rodriguez, Eloy; Duron, Emmanuelle; Boerwinkle, Eric; Ferri, Evelyn; Tagliavini, Fabrizio; Küçükali, Fahri; Pasquier, Florence; Sanchez-Garcia, Florentino; Mangialasche, Francesca; Jessen, Frank; Nicolas, Gaël; Selbæk, Geir; Ortega, Gemma; Chêne, Geneviève; Hadjigeorgiou, Georgios; Rossi, Giacomina; Spalletta, Gianfranco; Giaccone, Giorgio; Grande, Giulia; Binetti, Giuliano; Papenberg, Goran; Hampel, Harald; Bailly, Henri; Zetterberg, Henrik; Soininen, Hilkka; Karlsson, Ida K; Alvarez, Ignacio; Appollonio, Ildebrando; Giegling, Ina; Skoog, Ingmar; Saltvedt, Ingvild; Rainero, Innocenzo; Rosas Allende, Irene; Hort, Jakub; Diehl-Schmid, Janine; Van Dongen, Jasper; Vidal, Jean-Sebastien; Lehtisalo, Jenni; Wiltfang, Jens; Thomassen, Jesper Qvist; Kornhuber, Johannes; Haines, Jonathan L; Vogelgsang, Jonathan; Pineda, Juan A; Fortea, Juan; Popp, Julius; Deckert, Jürgen; Buerger, Katharina; Morgan, Kevin; Fließbach, Klaus; Sleegers, Kristel; Molina-Porcel, Laura; Kilander, Lena; Weinhold, Leonie; Farrer, Lindsay A; Wang, Li-San; Kleineidam, Luca; Farotti, Lucia; Parnetti, Lucilla; Tremolizzo, Lucio; Hausner, Lucrezia; Benussi, Luisa; Froelich, Lutz; Ikram, M Arfan; Deniz-Naranjo, M Candida; Tsolaki, Magda; Rosende-Roca, Maitée; Löwenmark, Malin; Hulsman, Marc; Spallazzi, Marco; Pericak-Vance, Margaret A; Esiri, Margaret; Bernal Sánchez-Arjona, María; Dalmasso, Maria Carolina; Martínez-Larrad, María Teresa; Arcaro, Marina; Nöthen, Markus M; Fernández-Fuertes, Marta; Dichgans, Martin; Ingelsson, Martin; Herrmann, Martin J; Scherer, Martin; Vyhnalek, Martin; Kosmidis, Mary H; Yannakoulia, Mary; Schmid, Matthias; Ewers, Michael; Heneka, Michael T; Wagner, Michael; Scamosci, Michela; Kivipelto, Miia; Hiltunen, Mikko; Zulaica, Miren; Alegret, Montserrat; Fornage, Myriam; Roberto, Natalia; van Schoor, Natasja M; Seidu, Nazib M; Banaj, Nerisa; Armstrong, Nicola J; Scarmeas, Nikolaos; Scherbaum, Norbert; Goldhardt, Oliver; Hanon, Oliver; Peters, Oliver; Skrobot, Olivia Anna; Quenez, Olivier; Lerch, Ondrej; Bossù, Paola; Caffarra, Paolo; Dionigi Rossi, Paolo; Sakka, Paraskevi; Mecocci, Patrizia; Hoffmann, Per; Holmans, Peter A; Fischer, Peter; Riederer, Peter; Yang, Qiong; Marshall, Rachel; Kalaria, Rajesh N; Mayeux, Richard; Vandenberghe, Rik; Cecchetti, Roberta; Ghidoni, Roberta; Frikke-Schmidt, Ruth; Sorbi, Sandro; Hägg, Sara; Engelborghs, Sebastiaan; Helisalmi, Seppo; Botne Sando, Sigrid; Kern, Silke; Archetti, Silvana; Boschi, Silvia; Fostinelli, Silvia; Gil, Silvia; Mendoza, Silvia; Mead, Simon; Ciccone, Simona; Djurovic, Srdjan; Heilmann-Heimbach, Stefanie; Riedel-Heller, Steffi; Kuulasmaa, Teemu; Del Ser, Teodoro; Lebouvier, Thibaud; Polak, Thomas; Ngandu, Tiia; Grimmer, Timo; Bessi, Valentina; Escott-Price, Valentina; Giedraitis, Vilmantas; Deramecourt, Vincent; Maier, Wolfgang; Jian, Xueqiu; Pijnenburg, Yolande A L; Kehoe, Patrick Gavin; Garcia-Ribas, Guillermo; Sánchez-Juan, Pascual; Pastor, Pau; Pérez-Tur, Jordi; Piñol-Ripoll, Gerard; Lopez de Munain, Adolfo; García-Alberca, Jose María; Bullido, María J; Álvarez, Victoria; Lleó, Alberto; Real, Luis M; Mir, Pablo; Medina, Miguel; Scheltens, Philip; Holstege, Henne; Marquié, Marta; Sáez, María Eugenia; Carracedo, Ángel; Amouyel, Philippe; Schellenberg, Gerard D; Williams, Julie; Seshadri, Sudha; van Duijn, Cornelia M; Mather, Karen A; Sánchez-Valle, Raquel; Serrano-Ríos, Manuel; Orellana, Adelina; Tárraga, Lluís; Blennow, Kaj; Huisman, Martijn; Andreassen, Ole A; Posthuma, Danielle; Clarimón, Jordi; Boada, Mercè; van der Flier, Wiesje M; Ramirez, Alfredo; Lambert, Jean-Charles; van der Lee, Sven J; Ruiz, Agustín

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