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

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

纳米孔长读长测序技术可帮助危重病人实现超快速诊断和紧急临床决策。

Smits, Daphne J; Ferraro, Federico; Drost, Mark; van der Linde, Herma C; de Graaf, Bianca M; van Bever, Yolande; Brooks, Alice S; Bardina, Livija; Brüggenwirth, Hennie T; Debuy, Christophe; Donker Kaat, Laura; van Dijk, Bastiaan T; van Engelen, Nienke; Geeven, Geert; van de Graaf, Raoul; van Haaften-Visser, Désirée Y; van Hasselt, Peter M; Heijsman, Daphne; Hendriks, Yvonne M C; Hitti-Malin, Rebekkah J; Hoefsloot, Lies H; Huijbregts, Glenn; IJspeert, Hanna; Lamballais, Sander; Mijalkovic, Jona; Mol, Merel O; Nawawi, Diënna; Nederpelt, Nadine; Nibbeling, Esther A R; Te Rijdt, Wouter; Schot, Rachel; van Slegtenhorst, Marjon; Sleutels, Frank; Ulenkate, Eva L M; Van Veghel-Plandsoen, Monique; Verhagen, Judith M A; Vos, David; Wauters, Erwin; Wilke, Martina; Sylva, Marc; Barakat, Tahsin Stefan; van Ham, Tjakko J; Kleefstra, Tjitske; Rots, Dmitrijs; Verhoeven, Virginie J M

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

对潜在剪接变体进行常规的基于RNA的分析有助于基因组诊断,并揭示计算机预测工具的局限性。

Drost, Mark; Dekker, Jordy; Ferraro, Federico; Kasteleijn, Esmee; Verschuren, Marije; Kroon, Evelien; Douben, Hannie C W; Vogt, Inte; van Unen, Leontine; Hoogeveen-Westerveld, Marianne; Elfferich, Peter; Schot, Rachel; Calandrini, Camilla; Korpershoek, Esther; Sleutels, Frank; Brüggenwirth, Hennie B R; Hollink, Iris R; Meerstein-Kessel, Lisette; Hoefsloot, Lies H; van Slegtenhorst, Marjon; Wilke, Martina; Weerts, Marjolein J A; van Minkelen, Rick; Wagner, Anja; Bouman, Arjan; van Paassen, Barbara W; Verheijen-Mancini, Grazia M; van de Laar, Ingrid M B H; Kievit, Anneke J A; Verhagen, Judith M A; Stuurman, Kyra E; Donker Kaat, Laura; van Dooren, Marieke F; Wessels, Marja W; Oldenburg, Rogier A; Zeidler, Shimriet; van Dijk, Tessa; Barakat, Tahsin Stefan; Verhoeven, Virginie J M; van Bever, Yolande; van Ierland, Yvette; Bannink, Natalja; van Koningsbruggen, Silvana; Lakeman, Phillis; Leeuwen, Lisette; Verbeek, Nienke E; Sinnema, Margje; Heijligers, Malou; van Asperen, Christi J; Saris, Jasper J; Nellist, Mark; van Ham, Tjakko J

MCT8 Deficiency in Females

女性MCT8缺乏症

Groeneweg, Stefan; van Geest, Ferdy S; van der Most, Floor; Abela, Lucia; Alfieri, Paolo; Bauer, Andrew J; Bertini, Enrico; Cappa, Marco; Çelik, Nurullah; de Coo, Irenaeus F M; Dolcetta-Capuzzo, Anna; Dubinski, Ilja; Granadillo, Jorge L; Hoefsloot, Lies H; Kalscheuer, Vera M; van der Knoop, Marieke M; Krude, Heiko; McNerney, Kyle P; Paone, Laura; Peeters, Robin P; Peters, Catherine; Schuelke, Markus; Schweizer, Ulrich; Sprague, Jennifer E; van Trotsenburg, A S Paul; Wilpert, Nina-Maria; Zanni, Ginevra; van Zutven, Laura J C M; Visser, W Edward

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性遗传成人发病型黄斑病变

Van Vooren, Eline; Van Den Broeck, Filip; Mahieu, Quinten; Geens, Eline; Van Heetvelde, Mattias; De Bruyne, Marieke; Van de Sompele, Stijn; Uppal, Sheetal; Poliakov, Eugenia; Dhaenens, Claire-Marie; Gregory-Evans, Cheryl Y; Hoefsloot, Lies; Gonzalez, Adriana Iglesias; Kohl, Susanne; Zuleger, Theresia; Demaret, Tanguy; Tuupanen, Sari; Ruys, Joke; Van Os, Luc; Platteau, Elise; Jacob, Julie; Vermeer, Sascha; Postelmans, Laurence; Dahan, Karin; Maystadt, Isabelle; Rasquin, Florence; Thiadens, Alberta A H J; Stephenson, Kirk A J; Sheri, Narin; Smirnov, Vasily; MacDonald, Ian M; Gregory-Evans, Kevin; Redmond, T Michael; De Zaeytijd, Julie; Leroy, Bart P; Bauwens, Miriam; De Baere, Elfride

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

DNA甲基化特征在神经发育障碍常规诊断中的临床应用价值

Smits, Daphne J; Debuy, Christophe; Brooks, Alice S; Schot, Rachel; Ferraro, Federico; Rots, Dmitrijs; Bouman, Arjan; Verhoeven, Virginie J M; Donker Kaat, Laura; Kant, Sarina G; van Bever, Yolande; Demirdas, Serwet; Zeidler, Shimriet; van Dooren, Marieke F; Donze, Stephany H; Hoefsloot, Lies H; van Slegtenhorst, Marjon A; Wilke, Martina; Sleutels, Frank; Drost, Mark; Brüggenwirth, Hennie T; van Minkelen, Rick; Goverde, Anne; Hol, Janna A; van de Laar, Ingrid M B H; van Ierland, Yvette; Kievit, Anneke; van der Schoot, Vyne; Stuurman, Kyra E; Mancini, Grazia M S; Wessels, Marja W; van Ham, Tjakko J; Kleefstra, Tjitske; Barakat, Tahsin Stefan

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population

对伊朗人群中疑似常染色体隐性遗传性视网膜营养不良进行诊断性全外显子组测序

Heutinck, Pam A T; Iglesias, Adriana I; Farhud, Dariush D; van Tienhoven, Marianne; Khoshraftar, Atiyeh; Zarif-Yeganeh, Marjan; Kia, Sima Kheradmand; Ghanbari, Mohsen; Smoor, Magda A; Klaver, Caroline C W; Hoefsloot, Lies H; Thiadens, Alberta A H J; Verhoeven, Virginie J M

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性成人发病型黄斑病变

Vooren Eline Van, den Broeck Filip Van, Mahieu Quinten, Geens Eline, Heetvelde Mattias Van, De Bruyne Marieke, de Sompele Stijn Van, Uppal Sheetal, Poliakov Eugenia, Dhaenens Claire-Marie, Gregory-Evans Cheryl Y, Hoefsloot Lies, Gonzalez Adriana Iglesias, Kohl Susanne, Zuleger Theresia, Demaret Tanguy, Tuupanen Sari, Ruys Joke, Os Luc Van, Platteau Elise, Jacob Julie, Vermeer Sascha, Postelmans Laurence, Dahan Karin, Maystadt Isabelle, Rasquin Florence, Thiadens Alberta A H J, Stephenson Kirk A J, Sheri Narin, Smirnov Vasily, MacDonald Ian M, Gregory-Evans Kevin, Redmond T Michael, De Zaeytijd Julie, Leroy Bart P, Bauwens Miriam, De Baere Elfride

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium

荷兰大型儿科队列中遗传性视网膜营养不良的频率和遗传谱:RD5000联盟

Heutinck, Pam A T; van den Born, L Ingeborgh; Vermeer, Maikel; Iglesias Gonzales, Adriana I; Hoyng, Carel B; Pott, Jan Willem R; Kroes, Hester Y; van Schooneveld, Mary J; Boon, Camiel J F; van Genderen, Maria M; Plomp, Astrid S; de Jong-Hesse, Yvonne; van Egmond-Ebbeling, Michelle B; Hoefsloot, Lies H; A Bergen, Arthur; Klaver, Caroline C W; Meester-Smoor, Magda A; Thiadens, Alberta A H J; Verhoeven, Virginie J M

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis

TMPRSS3 听力损失的自然史和基因型-表型相关性:一项国际多中心队列分析

Colbert, Brett M; Lanting, Cris; Smeal, Molly; Blanton, Susan; Dykxhoorn, Derek M; Tang, Pei-Ciao; Getchell, Richard L; Velde, Hedwig; Fehrmann, Mirthe; Thorpe, Ryan; Chapagain, Prem; Elkhaligy, Heidy; Kremer, Hannie; Yntema, Helger; Haer-Wigman, Lonneke; Redfield, Shelby; Sun, Tieqi; Bruijn, Saskia; Plomp, Astrid; Goderie, Thadé; van de Kamp, Jiddeke; Free, Rolien H; Wassink-Ruiter, Jolien Klein; Widdershoven, Josine; Vanhoutte, Els; Rotteveel, Liselotte; Kriek, Marjolein; van Dooren, Marieke; Hoefsloot, Lies; de Gier, Heriette H W; Schaefer, Amanda; Kolbe, Diana; Azaiez, Hela; Rabie, Grace; Aburayyan, Armal; Kawas, Mariana; Kanaan, Moien; Holder, Jourdan; Usami, Shin-Ichi; Chen, Zhengyi; Dai, Pu; Holt, Jeffrey; Nelson, Rick; Choi, Byung Yoon; Shearer, Eliot; Smith, Richard J H; Pennings, Ronald; Liu, Xue Zhong