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Alexander Hoischen

radboud university medical center

84H-index
360Paper Count
2.5WCitation Count
Published Papers 193
Publication Date
Near-perfect genome sequencing in medical genetics
err2026-06-26
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PREAI
errQuentin Sabbagh; Christian Gilissen; Helger G. Yntema; Lisenka E. L. M. Vissers; Alexander Hoischen
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HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
err2026-06-04
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PREAI
errBart van der Sanden; Christian Betz; Katharina Herzog; Esther Schamschula; Katharina Wimmer; Inga Vater; Saranya Balachandran; Xiao Chen; Jordi Corominas Galbany; Raoul Timmermans; Ronny Derks; Malte Spielmann; Michael A. Eberle; Christian Gilissen; Lisenka E.L.M. Vissers; Johannes Zschocke; Hanno J. Bolz; Alexander Hoischen
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Transcription-based identification of uncharacterized genes in the human immune response
err2026-05-12
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PREAI
errEmil E. Vorsteveld; Simone Kersten; Charlotte Kaffa; Annet Simons; Peter A. C. ’t Hoen; Mihai G. Netea; Alexander Hoischen
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Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema
err2026-03-28
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errOAAI
errLaura Batlle-Masó; Kornelia Neveling; Johana Gil-Serrano; Eveline Kamping; Amber den Ouden; Raoul Timmermans; Aina Bruch-Tàrrega; Aina Aguiló-Cucurull; Janire Perurena-Prieto; Paula Fernández-Álvarez; Marloes Steehouwer; Alexander Hoischen; Mar Guilarte; Roger Colobran
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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
err2026-01-09
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errMathieu Quinodoz; Kim Rodenburg; Zuzana Cvackova; Karolina Kaminska; Suzanne E. de Bruijn; Ana Belén Iglesias-Romero; Erica G. M. Boonen; Mukhtar Ullah; Nick Zomer; Marc Folcher; Jacques Bijon; Lara K. Holtes; Stephen H. Tsang; Zelia Corradi; K. Bailey Freund; Stefanida Shliaga; Daan M. Panneman; Rebekkah J. Hitti-Malin; Manir Ali; Ala’a AlTalbishi; Sten Andréasson; Georg Ansari; Gavin Arno; Galuh D. N. Astuti; Carmen Ayuso; Radha Ayyagari; Sandro Banfi; Eyal Banin; Tahsin Stefan Barakat; Mirella T. S. Barboni; Miriam Bauwens; Tamar Ben-Yosef; Virginie Bernard; David G. Birch; Pooja Biswas; Fiona Blanco-Kelly; Beatrice Bocquet; Camiel J. F. Boon; Kari Branham; Dominique Bremond-Gignac; Alexis Ceecee Britten-Jones; Kinga M. Bujakowska; Cyril Burin des Roziers; Elizabeth L. Cadena; Giacomo Calzetti; Francesca Cancellieri; Luca Cattaneo; Naomi Chadderton; Peter Charbel Issa; Luísa Coutinho-Santos; Stephen P. Daiger; Elfride De Baere; Marieke De Bruyne; Berta de la Cerda; John N. De Roach; Julie De Zaeytijd; Ronny Derks; Claire-Marie Dhaenens; Lubica Dudakova; Jacque L. Duncan; G. Jane Farrar; Nicolas Feltgen; Beau J. Fenner; Lidia Fernández-Caballero; Juliana M. Ferraz Sallum; Simone Gana; Alejandro Garanto; Jessica C. Gardner; Christian Gilissen; Roser Gonzàlez-Duarte; Kensuke Goto; Sam Griffiths-Jones; Tobias B. Haack; Lonneke Haer-Wigman; Alison J. Hardcastle; Takaaki Hayashi; Elise Héon; Lies H. Hoefsloot; Alexander Hoischen; Josephine P. Holtan; Carel B. Hoyng; Manuel Benjamin B. Ibanez; Chris F. Inglehearn; Takeshi Iwata; Brynjar O. Jensson; Kaylie Jones; Vasiliki Kalatzis; Smaragda Kamakari; Marianthi Karali; Ulrich Kellner; Caroline C. W. Klaver; Krisztina Knézy; Robert K. Koenekoop; Susanne Kohl; Taro Kominami; Laura Kühlewein; Tina M. Lamey; Rina Leibu; Bart P. Leroy; Petra Liskova; Irma Lopez; Victor R. de J. López-Rodríguez; Quinten Mahieu; Omar A. Mahroo; Gaël Manes; Luke Mansard; M. Pilar Martín-Gutiérrez; Nelson Martins; Laura Mauring; Martin McKibbin; Terri L. McLaren; Isabelle Meunier; Michel Michaelides; José M. Millán; Kei Mizobuchi; Rajarshi Mukherjee; Zoltán Zsolt Nagy; Kornelia Neveling; Monika Ołdak; Michiel Oorsprong; Yang Pan; Anastasia Papachristou; Antonio Percesepe; Maximilian Pfau; Eric A. Pierce; Emily Place; Raj Ramesar; Francis Ramond; Florence Andrée Rasquin; Gillian I. Rice; Lisa Roberts; María Rodríguez-Hidalgo; Javier Ruiz-Ederra; Ataf H. Sabir; Ai Fujita Sajiki; Ana Isabel Sánchez-Barbero; Asodu Sandeep Sarma; Riccardo Sangermano; Cristina M. Santos; Margherita Scarpato; Hendrik P. N. Scholl; Dror Sharon; Sabrina G. Signorini; Francesca Simonelli; Ana Berta Sousa; Maria Stefaniotou; Kari Stefansson; Katarina Stingl; Akiko Suga; Patrick Sulem; Lori S. Sullivan; Viktória Szabó; Jacek P. Szaflik; Gita Taurina; Alberta A. H. J. Thiadens; Carmel Toomes; Viet H. Tran; Miltiadis K. Tsilimbaris; Pavlina Tsoka; Veronika Vaclavik; Marie Vajter; Sandra Valeina; Enza Maria Valente; Casey Valentine; Rebeca Valero; Sophie Valleix; Joseph van Aerschot; L. Ingeborgh van den Born; Mattias Van Heetvelde; Virginie J. M. Verhoeven; Andrea L. Vincent; Andrew R. Webster; Laura Whelan; Bernd Wissinger; Georgia G. Yioti; Kazutoshi Yoshitake; Juan C. Zenteno; Roberta Zeuli; Theresia Zuleger; Chaim Landau; Allan I. Jacob; Siying Lin; Frans P. M. Cremers; Winston Lee; Jamie M. Ellingford; David Stanek; Susanne Roosing; Carlo Rivolta
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Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
err2026-01-06
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errOAAI
errVicente A. Yépez; German Demidov; Kornelia Ellwanger; Steven Laurie; Rebeka Luknárová; Midhuna Immaculate Joseph Maran; Thomas Hentrich; Lydia Sagath; Bart van der Sanden; Galuh Astuti; Kornelia Neveling; Laura Batlle-Masó; Danique Beijer; Felix Brechtmann; Andrés Caballero-Oteyza; Marc Dabad; Anne-Sophie Denommé-Pichon; Cenna Doornbos; Zakaria Eddafir; Berta Estévez-Arias; Ozge Aksel Kilicarslan; Ingrid H. M. Kolen; Leon Kraß; Katja Lohmann; Shubhankar Londhe; Estrella López-Martín; Kars Maassen; William Macken; Beatriz Martínez-Delgado; Davide Mei; Christian Mertes; Raffaella Minardi; Heba Morsy; Juliane S. Mueller; Daniel Natera-de Benito; Isabelle Nelson; Machteld M. Oud; Ida Paramonov; Daniel Picó; Davide Piscia; Kiran Polavarapu; Emanuele Raineri; Marco Savarese; Noor Smal; Marloes Steehouwer; Wouter Steyaert; Morris A. Swertz; Mirja Thomsen; Ana Töpf; Liedewei Van de Vondel; Gerben van der Vries; Antonio Vitobello; Carlo Wilke; Birte Zurek; Peter-Bram t’ Hoen; Leslie Matalonga; Lisenka E. L. M. Vissers; Christian Gilissen; Julia Schulze-Hentrich; Sergi Beltran; Anna Esteve-Codina; Alexander Hoischen; Julien Gagneur; Holm Graessner
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The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
err2025-11-20
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errOAAI
errMaria Francesca Di Feo; Ida Paramonov; Leslie Matalonga Borrel; Ana Töpf; Alexander Hoischen; Sergi Beltran; Holm Graessner; Lisenka Vissers; Richarda de Voer; Marielle van Gijn; Simona Balestrini; Holger Lerche; Gaëtan Lesca; Swethaa Natraj Gayathri; Kornelia Ellwanger; Mireille Cossee; Aurelien Perrin; Anna Sarkozy; Gisele Bonne; Job A.J. Verdonschot
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HiFi long-read genomes for difficult-to-detect, clinically relevant variants
err2025-02-01
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errOAAI
errHops, 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.
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A Case-Control Study Supports Genetic Contribution of the PON Gene Family in Obesity and Metabolic Dysfunction Associated Steatotic Liver Disease
err2024-08-29
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errVan Dijck, Evelien; Diels, Sara; Fransen, Erik; Cremers, Tycho Canter; Verrijken, An; Dirinck, Eveline; Hoischen, Alexander; Vandeweyer, Geert; Vanden Berghe, Wim; Van Gaal, Luc; Francque, Sven; Van Hul, Wim
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IMPRESS: Improved methylation profiling using restriction enzymes and smMIP sequencing, combined with a new biomarker panel, creating a multi-cancer detection assay
err2024-08-24
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errOAAI
errVandenhoeck, Janah; Neefs, Isabelle; Vanpoucke, Thomas; Ibrahim, Joe; Suls, Arvid; Peeters, Dieter; Schepers, Anne; Hoischen, Alexander; Fransen, Erik; Peeters, Marc; Van Camp, Guy; Op de Beeck, Ken
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Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations
err2024-08-01
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PREAI
errHaghshenas, Sadegheh; Karimi, Karim; Stevenson, Roger E.; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Rzasa, Jessica; McConkey, Haley; Lauzon-Young, Carolyn; Balci, Tugce B.; White-Brown, Alexandre M.; Carter, Melissa T.; Richer, Julie; Armour, Christine M.; Sawyer, Sarah L.; Bhola, Priya T.; Tedder, Matthew L.; Skinner, Cindy D.; van Rooij, Iris A. L. M.; van de Putte, Romy; de Blaauw, Ivo; Koeck, Rebekka M.; Hoischen, Alexander; Brunner, Han; Esteki, Masoud Zamani; Pelet, Anna; Lyonnet, Stanislas; Amiel, Jeanne; Boycott, Kym M.; Sadikovic, Bekim
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Clonal Hematopoiesis Has Prognostic Value in Dilated Cardiomyopathy Independent of Age and Clone Size
err2024-05-01
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PREAI
errSikking, Maurits A.; Stroeks, Sophie L. V. M.; Henkens, Michiel T. H. M.; Raafs, Anne G.; Cossins, Benjamin; van Deuren, Rosanne C.; Steehouwer, Marlies; Riksen, Niels P.; van den Wijngaard, Arthur; Brunner, Han G.; Hoischen, Alexander; Verdonschot, Job A. J.; Heymans, Stephane R. B.
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Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
err2024-04-01
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errOAAI
errvan der Made, Caspar I.; Kersten, Simone; Chorin, Odelia; Engelhardt, Karin R.; Ramakrishnan, Gayatri; Griffin, Helen; van der Loeff, Ina Schim; Venselaar, Hanka; Rothschild, Annick Raas; Segev, Meirav; Schuurs-Hoeijmakers, Janneke H. M.; Mantere, Tuomo; Essers, Rick; Esteki, Masoud Zamani; Avital, Amir L.; Loo, Peh Sun; Simons, Annet; Pfundt, Rolph; Warris, Adilia; Seyger, Marieke M.; van de Veerdonk, Frank L.; Netea, Mihai G.; Slatter, Mary A.; Flood, Terry; Gennery, Andrew R.; Simon, Amos J.; Lev, Atar; Frizinsky, Shirley; Barel, Ortal; van der Burg, Mirjam; Somech, Raz; Hambleton, Sophie; Henriet, Stefanie S. V.; Hoischen, Alexander
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Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
err2024-03-04
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errOAAI
errLecoquierre, Francois; Cassinari, Kevin; Drouot, Nathalie; May, Angele; Fourneaux, Steeve; Charbonnier, Francoise; Derambure, Celine; Coutant, Sophie; Saugier-Veber, Pascale; Hoischen, Alexander; Charbonnier, Camille; Nicolas, Gael
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Deficiency in ELF4, X-Linked: a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease
err2024-01-17
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PREAI
errOlyha, Sam J.; O'Connor, Shannon K.; Kribis, Marat; Bucklin, Molly L.; Kumar, Dinesh Babu Uthaya; Tyler, Paul M.; Alam, Faiad; Jones, Kate M.; Sheikha, Hassan; Konnikova, Liza; Lakhani, Saquib A.; Montgomery, Ruth R.; Catanzaro, Jason; Du, Hongqiang; Digiacomo, Daniel V.; Rothermel, Holly; Moran, Christopher J.; Fiedler, Karoline; Warner, Neil; Hoppenreijs, Esther P. A. H.; van der Made, Caspar I.; Hoischen, Alexander; Olbrich, Peter; Neth, Olaf; Rodriguez-Martinez, Alejandro; Lucena Soto, Jose Manuel; van Rossum, Annemarie M. C.; Dalm, Virgil A. S. H.; Muise, Aleixo M.; Lucas, Carrie L.
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Association Between Clonal Hematopoiesis Driver Mutations, Immune Cell Function, and the Vasculometabolic Complications of Obesity
err2024-01-16
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errTercan, Helin; Cossins, Benjamin C.; van Deuren, Rosanne C.; Rutten, Joost H. W.; Joosten, Leo A. B.; Netea, Mihai G.; Hoischen, Alexander; Bekkering, Siroon; Riksen, Niels P.
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A framework for the clinical implementation of optical genome mapping in hematologic malignancies
err2024-01-02
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errOAAI
errLevy, Brynn; Kanagal-Shamanna, Rashmi; Sahajpal, Nikhil S.; Neveling, Kornelia; Rack, Katrina; Dewaele, Barbara; Weghuis, Daniel Olde; Stevens-Kroef, Marian; Puiggros, Anna; Mallo, Mar; Clifford, Benjamin; Mantere, Tuomo; Hoischen, Alexander; Espinet, Blanca; Kolhe, Ravindra; Sole, Francesc; Raca, Gordana; Smith, Adam C.
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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
err2023-11-23
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errOAAI
errEssers, Rick; Lebedev, Igor N.; Kurg, Ants; Fonova, Elizaveta A.; Stevens, Servi J. C.; Koeck, Rebekka M.; von Rango, Ulrike; Brandts, Lloyd; Deligiannis, Spyridon Panagiotis; Nikitina, Tatyana V.; Sazhenova, Elena A.; Tolmacheva, Ekaterina N.; Kashevarova, Anna A.; Fedotov, Dmitry A.; Demeneva, Viktoria V.; Zhigalina, Daria I.; Drozdov, Gleb V.; Al-Nasiry, Salwan; Macville, Merryn V. E.; van den Wijngaard, Arthur; Dreesen, Jos; Paulussen, Aimee; Hoischen, Alexander; Brunner, Han G.; Salumets, Andres; Esteki, Masoud Zamani
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Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors
err2023-11-22
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errOAAI
errAbdel-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.
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Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
err2023-10-27
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errOAAI
errSteyaert, 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
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