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HiFi long-read genomes for difficult-to-detect, clinically relevant variants Hops, Wolfram; Weiss, Marjan M.; Derks, Ronny; Galbany, Jordi Corominas; den Ouden, Amber; van den Heuvel, Simone; Timmermans, Raoul; Smits, Jos; Mokveld, Tom; Dolzhenko, Egor; Chen, Xiao; van den Wijngaard, Arthur; Eberle, Michael A.; Yntema, Helger G.; Hoischen, Alexander; Gilisen, Christian; Vissers, Lisenka E. L. M. 分享 收藏
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses 泛欧洲罕见病资源库的基因组再分析获得新的诊断结果 Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Schuermans, Nika; Sommer, Anna K.; Demidov, German; Paramonov, Ida; Thomas, Coline; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F.; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Diaz-Manera, Jordi; Faivre, Laurence; Fernandez-Callejo, Marcos; Garcia-Pelaez, Jose; Guillot-Noel, Lena; Haack, Tobias B.; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmueller, Hanns; Lopez-Martin, Estrella; Macaya, Alfons; Maver, Ales; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Schwabova, Jaroslava Paulasova; Pauly, Martje G.; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Sablauskas, Karolis; Savarese, Marco; Schoels, Ludger; Schuetz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A.; Tartaglia, Marco; te Paske, Iris B. A. W.; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vyhnalkova, Emilie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J.; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schuele, Rebecca; Synofzik, Matthis; Verloes, Alain; Brunner, Han G.; Lohmann, Katja; de Voer, Richarda M.; Topf, Ana; Vissers, Lisenka E. L. M.; Beltran, Sergi; Hoischen, Alexander 分享 收藏
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants 通过对174个具有单等位基因致病变异的个体进行基因组测序来发现罕见的孟德尔疾病中的隐性等位基因 Schobers, Gaby; Pennings, Maartje; de Vries, Juliette; Kwint, Michael; van Reeuwijk, Jeroen; Galbany, Jordi Corominas; 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. 分享 收藏
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Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan Basharat, Rabia; de Bruijn, Suzanne E.; Zahid, Muhammad; Rodenburg, Kim; Hitti-Malin, Rebekkah J.; Rodriguez-Hidalgo, Maria; Boonen, Erica G. M.; Jarral, Afeefa; Mahmood, Arif; Corominas, Jordi; Khalil, Sharqa; Zai, Jawaid Ahmed; Ali, Ghazanfar; Ruiz-Ederra, Javier; Gilissen, Christian; Cremers, Frans P. M.; Ansar, Muhammad; Panneman, Daan M.; Roosing, Susanne 分享 收藏
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Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity Kalm, Tassja; Schob, Claudia; Voeller, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Kloeckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; Slegtenhorst, Marjon van; Alvarez, Sara; Fernandez-Jaen, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylene; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Genevieve; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortum, Fanny; Kubisch, Christian; Bahring, Robert; Kindler, Stefan 分享 收藏
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schuetz, Frederic; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; Demille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E. L. M.; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Asmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M.; Lyons, Michael J.; Carvalho, Claudia M. B.; Zhang, Chaofan; Lupski, James R.; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; McCormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Ales; Haanpaa, Maria K.; Pohjola, Pia; Arikka, Harri; Kievit, Anneke J. A.; Calandrini, Camilla; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre 分享 收藏
Genome sequencing as a generic diagnostic strategy for rare disease 基因组测序作为罕见病的通用诊断策略 Schobers, Gaby; Derks, Ronny; den Ouden, Amber; Swinkels, Hilde; van Reeuwijk, Jeroen; Bosgoed, Ermanno; Lugtenberg, Dorien; Sun, Su Ming; Galbany, Jordi Corominas; Weiss, Marjan; Blok, Marinus J.; Keizer, Richelle A. C. M. Olde; Hofste, Tom; Hellebrekers, Debby; de Leeuw, Nicole; Stegmann, Alexander; Kamsteeg, Erik-Jan; Paulussen, Aimee D. C.; Ligtenberg, Marjolijn J. L.; Bradley, Xiangqun Zheng; Peden, John; Gutierrez, Alejandra; Pullen, Adam; Payne, Tom; Gilissen, Christian; van den Wijngaard, Arthur; Brunner, Han G.; Nelen, Marcel; Yntema, Helger G.; Vissers, Lisenka E. L. M. 分享 收藏
Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing 使用无创胎儿非整倍性检测产生的数据早期检测孕妇的活动性人类巨细胞病毒 (hCMV) 感染 Faas, Brigitte H. W.; Astuti, Galuh; Melchers, Willem J. G.; Reuss, Annette; Gilissen, Christian; Macville, Merryn V. E.; Ghesquiere, Stijn A. I.; Houben, Leonieke M. H.; Srebniak, Malgorzata Ilona; Geeven, Geert; Rahamat-Langendoen, Janette C.; Sistermans, Erik A.; Linthorst, Jasper 分享 收藏
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing Haarman, Annechien E. G.; Klaver, Caroline C. W.; Tedja, Milly S.; Roosing, Susanne; Astuti, Galuh; Gilissen, Christian; Hoefsloot, Lies H.; van Tienhoven, Marianne; Brands, Tom; Magielsen, Frank J.; Eussen, Bert H. J. F. M. M.; de Klein, Annelies; Brosens, Erwin; Verhoeven, Virginie J. M. 分享 收藏
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors Abdel-Salam, Ghada M. H.; Hellmuth, Susanne; Gradhand, Elise; Kaeseberg, Stephan; Winter, Jennifer; Pabst, Ann-Sophie; Eid, Maha M.; Thiele, Holger; Nuernberg, Peter; Budde, Birgit S.; Toliat, Mohammad Reza; Brecht, Ines B.; Schroeder, Christopher; Gschwind, Axel; Ossowski, Stephan; Haeuser, Friederike; Rossmann, Heidi; Abdel-Hamid, Mohamed S.; Hegazy, Ibrahim; Mohamed, Ahmed G.; Schneider, Dominik T.; Bertoli-Avella, Aida; Bauer, Peter; Pearring, Jillian N.; Pfundt, Rolph; Hoischen, Alexander; Gilissen, Christian; Strand, Dennis; Zechner, Ulrich; Tashkandi, Soha A.; Faqeih, Eissa A.; Stemmann, Olaf; Strand, Susanne; Bolz, Hanno J. 分享 收藏
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples (Oct, 10.1038/s41431-023-01478-7, 2023) Wijngaard, Robin; Demidov, German; O'Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; te Paske, Iris B. A. W.; de Voer, Richarda M.; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Topf, Ana; van der Kooi, Anneke J.; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G.; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian 分享 收藏
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (vol 24, pg 2051, 2022) de Boer, Elke; Ockeloen, Charlotte W.; Kampen, Rosalie A.; Hampstead, Juliet E.; Dingemans, Alexander J. M.; Rots, Dmitrijs; Lutje, Lukas; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; Angle, Brad; Chatron, Nicolas; Denomme-Pichon, Anne-Sophie; Devinsky, Orrin; Dubourg, Christele; Elmslie, Frances; Elloumi, Houda Zghal; Faivre, Laurence; Fitzgerald-Butt, Sarah; Genevieve, David; Goos, Jacqueline A. C.; Helm, Benjamin M.; Kini, Usha; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lynch, Sally A.; Mathijssen, Irene M. J.; McGowan, Ruth; Monaghan, Kristin G.; Odent, Sylvie; Pfundt, Rolph; Putoux, Audrey; van Reeuwijk, Jeroen; Santen, Gijs W. E.; Sasaki, Erina; Sorlin, Arthur; van der Spek, Peter J.; Stegmann, Alexander P. A.; Swagemakers, Sigrid M. A.; Valenzuela, Irene; Viora-Dupont, Eleonore; Vitobello, Antonio; Ware, Stephanie M.; Weber, Mathys; Gilissen, Christian; Low, Karen J.; Fisher, Simon E.; Vissers, Lisenka E. L. M.; Wong, Maggie M. K.; Kleefstra, Tjitske 分享 收藏
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation 41,755外显子组旁系同源区域的系统分析揭示了临床相关的变异 Steyaert, Wouter; Haer-Wigman, Lonneke; Pfundt, Rolph; Hellebrekers, Debby; Steehouwer, Marloes; Hampstead, Juliet; de Boer, Elke; Stegmann, Alexander; Yntema, Helger; Kamsteeg, Erik-Jan; Brunner, Han; Hoischen, Alexander; Gilissen, Christian 分享 收藏
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples Wijngaard, Robin; Demidov, German; O'Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; te Paske, Iris B. A. W.; de Voer, Richarda M.; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Toepf, Ana; van der Kooi, Anneke J.; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G.; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian 分享 收藏
Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility Kumpula, Timo A. A.; Vorimo, Sandra; Mattila, Taneli T. T.; O'Gorman, Luke; Astuti, Galuh; Tervasmaki, Anna; Koivuluoma, Susanna; Mattila, Tiina M. M.; Grip, Mervi; Winqvist, Robert; Kuismin, Outi; Moilanen, Jukka; Hoischen, Alexander; Gilissen, Christian; Mantere, Tuomo; Pylkas, Katri 分享 收藏
Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancer Hofste, Lisa S. M.; Geerlings, Maartje J.; von Rhein, Daniel; Rutten, Heidi; Westenberg, Helen A.; Weiss, Marjan M.; Gilissen, Christian; Hofste, Tom; van der Post, Rachel S.; Klarenbeek, Bastiaan R.; de Wilt, Johannes H. W.; Ligtenberg, Marjolijn J. L. 分享 收藏
Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity 年龄相关突变驱动的克隆造血20年的演变与肥胖的代谢功能障碍有关 Andersson-Assarsson, Johanna C.; van Deuren, Rosanne C.; Kristensson, Felipe M.; Steehouwer, Marloes; Sjoholm, Kajsa; Svensson, Per-Arne; Pieterse, Marc; Gilissen, Christian; Taube, Magdalena; Jacobson, Peter; Perkins, Rosie; Brunner, Han G.; Netea, Mihai G.; Peltonen, Markku; Carlsson, Bjorn; Hoischen, Alexander; Carlsson, Lena M. S. 分享 收藏
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