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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. Share Save
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses 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 Share Save
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants 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. Share Save
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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 Share Save
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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 Share Save
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 Share Save
Genome sequencing as a generic diagnostic strategy for rare disease 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. Share Save
Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing 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 Share Save
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. Share Save
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. Share Save
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 Share Save
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 Share Save
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation 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 Share Save
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 Share Save
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 Share Save
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. Share Save
Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity 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. Share Save
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