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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness

EGFLAM致病变异与先天性静止性夜盲症

Boranijasevic, Sanja; Smirnov, Vasily; Navarro, Julien; Tjon-Fo-Sang, Martha; Condroyer, Christel; Haer-Wigman, Lonneke; Antonio, Aline; Dhaenens, Claire-Marie; Verhoeven, Virginie J M; Sahel, José-Alain; van den Born, L Ingeborgh; Defoort, Sabine; Audo, Isabelle; Zeitz, Christina

Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome

出版商更正:长读长测序技术发现 IQCB1 基因中一个隐藏的 LINE-1/ERV1 插入突变是 Senior-Løken 综合征的致病变异。

de Bruijn, Suzanne E; Ingeborgh, Van den Born L; Derks, Ronny; Haer-Wigman, Lonneke; O'Gorman, Luke; Cremers, Frans P M; van Beek, Ronald; Hoischen, Alexander; Roosing, Susanne; Neveling, Kornelia

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

POC5基因的双等位基因功能缺失变异会导致视网膜、内分泌和神经肌肉纤毛病综合征。

Vulto-van Silfhout, Anneke T; Jazet, Ingrid M; Yzer, Suzanne; Pas, Jeroen; Demirdas, Serwet; van Rossum, Elisabeth F C; Thiadens, Alberta A H J; van Beek, Ronald; Haer-Wigman, Lonneke; Barge-Schaapveld, Daniela Q C M; Brasch-Andersen, Charlotte; Frost, Simon; Bauwens, Miriam; De Baere, Elfride; Balikova, Irina; Van den Broeck, Filip; Weisz-Hubshman, Monika; Joset, Pascal; Miny, Peter; Filges, Isabel; Kohl, Susanne; De Angeli, Pietro; Kühlewein, Laura; Bodenbender, Jan-Philipp; Haack, Tobias; Poths, Karin; Fernandez-Caballero, Lidia; Corton, Marta; Blanco Kelly, Fiona; Ayuso, Carmen; Martínez-Esteban, Peggy; Vissing, John; Díaz-Manera, Jordi; Straub, Volker; Töpf, Ana; Lin, Siying; Arno, Gavin; Macken, William L; Spillane, Jennifer; Ramachandran, Radha; de Vrieze, Erik; van Ham, Tjakko; Roosing, Susanne; Oud, Machteld M

Characterising symptomatic substates in individuals on the psychosis continuum: a hidden Markov modelling approach

利用隐马尔可夫模型方法对精神病连续谱个体中的症状亚状态进行表征

Scott, Isabelle; Aarts, Emmeke; Wannan, Cassandra; Gao, Caroline X; Clark, Scott; Hartmann, Simon; Nguyen, Josh; Cavve, Blake; Hartmann, Jessica A; Dwyer, Dominic; van der Tuin, Sara; Raposo de Almeida, Esdras; Lin, Ashleigh; Amminger, G Paul; Thompson, Andrew; Wood, Stephen J; Yung, Alison R; van den Berg, David; McGorry, Patrick D; Wigman, Johanna T W; Nelson, Barnaby

New diagnosis in psychiatry: beyond heuristics

精神病学新诊断:超越启发式方法

McGorry, Patrick D; Hickie, Ian B; Kotov, Roman; Schmaal, Lianne; Wood, Stephen J; Allan, Sophie M; Altınbaş, Kürşat; Boyce, Niall; Bringmann, Laura F; Caspi, Avshalom; Cuthbert, Bruce; Gawęda, Łukasz; Groen, Robin N; Guloksuz, Sinan; Hartmann, Jessica A; Krueger, Robert F; Mei, Cristina; Nieman, Dorien; Öngür, Dost; Raballo, Andrea; Scheffer, Marten; Schreuder, Marieke J; Shah, Jai L; Wigman, Johanna T W; Yuen, Hok Pan; Nelson, Barnaby

Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome

长读长测序技术发现 IQCB1 基因中一个隐藏的 LINE-1/ERV1 插入突变是 Senior-Løken 综合征的致病变异。

de Bruijn, Suzanne E; Ingeborgh, Van den Born L; Derks, Ronny; Haer-Wigman, Lonneke; O'Gorman, Luke; Cremers, Frans P M; van Beek, Ronald; Hoischen, Alexander; Roosing, Susanne; Neveling, Kornelia

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants

通过对174名携带单等位基因致病变异的个体进行基因组测序,揭示罕见孟德尔遗传病中的隐性等位基因

Schobers, Gaby; Pennings, Maartje; de Vries, Juliette; Kwint, Michael; van Reeuwijk, Jeroen; Corominas Galbany, Jordi; van Beek, Ronald; Kamping, Eveline; Timmermans, Raoul; Kamsteeg, Erik-Jan; Haer-Wigman, Lonneke; Cremers, Frans P M; Roosing, Susanne; Gilissen, Christian; Kremer, Hannie; Brunner, Han G; Yntema, Helger G; Vissers, Lisenka E L M

Digital health technologies in the accelerating medicines Partnership® Schizophrenia Program

数字健康技术助力加速药物研发合作®精神分裂症项目

Wigman, Johanna T W; Ching, Ann Ee; Chung, Yoonho; Eichi, Habiballah Rahimi; Lane, Erlend; Langholm, Carsten; Vaidyam, Aditya; Byun, Andrew Jin Soo; Haidar, Anastasia; Hartmann, Jessica; Nunez, Angela; Dwyer, Dominic; Nasarudin, Adibah Amani; Borders, Owen; Scott, Isabelle; Tamayo, Zailyn; Matneja, Priya; Cho, Kang-Ik; Addington, Jean; Alameda, Luis K; Arango, Celso; Breitborde, Nicholas J K; Broome, Matthew R; Cadenhead, Kristin S; Calkins, Monica E; Chen, Eric Yu Hai; Choi, Jimmy; Conus, Philippe; Corcoran, Cheryl M; Cornblatt, Barbara A; Diaz-Caneja, Covadonga M; Ellman, Lauren M; Fusar-Poli, Paolo; Gaspar, Pablo A; Gerber, Carla; Glenthøj, Louise Birkedal; Horton, Leslie E; Hui, Christy Lai Ming; Kambeitz, Joseph; Kambeitz-Ilankovic, Lana; Keshavan, Matcheri S; Kim, Sung-Wan; Koutsouleris, Nikolaos; Langbein, Kerstin; Mamah, Daniel; Mathalon, Daniel H; Mittal, Vijay A; Nordentoft, Merete; Pearlson, Godfrey D; Perez, Jesus; Perkins, Diana O; Powers, Albert R 3rd; Rogers, Jack; Sabb, Fred W; Schiffman, Jason; Shah, Jai L; Silverstein, Steven M; Smesny, Stefan; Yassin, Walid; Stone, William S; Strauss, Gregory P; Thompson, Judy L; Upthegrove, Rachel; Verma, Swapna; Wang, Jijun; Wolf, Daniel H; Wolff, Phillip; Rowland, Laura M; D'Alfonso, Simon; Pasternak, Ofer; Bouix, Sylvain; McGorry, Patrick D; Kahn, Rene S; Kane, John M; Bearden, Carrie E; Woods, Scott W; Shenton, Martha E; Nelson, Barnaby; Baker, Justin T; Torous, John

Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss

基因分型检测的感音神经性听力损失患者的耳蜗植入结果

Fehrmann, M L A; Haer-Wigman, L; Kremer, H; Yntema, H G; Thijssen, M E G; Mylanus, E A M; Huinck, W J; Lanting, C P; Pennings, R J E