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Helger G. Yntema

radboud university medical center

64H-index
204Paper Count
1.6WCitation Count
Published Papers 98
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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Towards responsible genome-wide screening: normative and stakeholder considerations
err2026-05-22
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errOAAI
errCorrette Ploem; Guido de Wert; Sara Soriano Longarón; Jacobien Niebuur; Imke Christiaans; Erwin Birnie; Lidewij Henneman; Tessel Rigter; Martina Cornel; Daphne Stemkens; Helger Yntema; Sanne Van der Hout; Mirjam Plantinga
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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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Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases
err2024-10-16
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errOAAI
errVelde, Hedwig M.; Vaseghi-Shanjani, Maryam; Smits, Jeroen J.; Ramakrishnan, Gayatri; Oostrik, Jaap; Wesdorp, Mieke; Astuti, Galuh; Yntema, Helger G.; Hoefsloot, Lies; Lanting, Cris P.; Huynen, Martijn A.; Lehman, Anna; Turvey, Stuart E.; Pennings, Ronald J. E.; Kremer, Hannie
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Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants
err2024-09-27
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PREAI
errSchobers, 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.
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Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
err2024-05-04
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errOAAI
errLonneke Haer-Wigman; Amber den Ouden; Ronny Derks; Maria M. van Genderen; Dorien Lugtenberg; Joke Verheij; Raymon Vijzelaar; Helger G. Yntema; Lisenka E. L. M. Vissers; Kornelia Neveling
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The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
err2024-04-30
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errOAAI
errColbert, 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, Thade; 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.; Aten, E.; Widdershoven, J. C. C.; Hof, J. R.; Hellingman, K.; Vernimmen, V.; Kremer, H.; Pennings, R. J. E.; Feenstra, I.; Lanting, C. P.; Yntema, H. G.; Cals, F. L. J.; Haer-Wigman, L.; Free, R. H.; Wassink-Ruiter, J. S. Klein; Smit, A. L.; van den Boogaard, M. J.; Lachmeier, A. M. A.; Smits, J. J.; Ebbens, F. A.; Maas, S. M.; Plomp, A.; Goderie, T. P. M.; Merkus, P.; van de Kamp, J.; 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
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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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Downgrades: a potential source of moral tension
err2023-09-21
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PREAI
errOerlemans, Anke J. M.; Feenstra, Ilse; Yntema, Helger G.; Boenink, Marianne
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
err2023-05-03
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errOAAI
errYaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet; Hofste, Tom; Pfundt, Rolph; Galbany, Jordi Corominas; Rinne, Tuula; Yntema, Helger G.; Hoischen, Alexander; Nelen, Marcel; Gilissen, Christian; Solve-RD consortium
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The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
err2022-09-16
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errOAAI
errvan der Sanden, Bart P. G. H.; Schobers, Gaby; Galbany, Jordi Corominas; Koolen, David A.; Sinnema, Margje; van Reeuwijk, Jeroen; Stumpel, Connie T. R. M.; Kleefstra, Tjitske; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; Leijsten, Nico; Kwint, Michael; Derks, Ronny; Swinkels, Hilde; den Ouden, Amber; Pfundt, Rolph; Rinne, Tuula; de Leeuw, Nicole; Stegmann, Alexander P.; Stevens, Servi J.; van den Wijngaard, Arthur; Brunner, Han G.; Yntema, Helger G.; Gilissen, Christian; Nelen, Marcel R.; Vissers, Lisenka E. L. M.
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DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data
err2022-06-17
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errOAAI
errKhazeeva, Gelana; Sablauskas, Karolis; van der Sanden, Bart; Steyaert, Wouter; Kwint, Michael; Rots, Dmitrijs; Hinne, Max; van Gerven, Marcel; Yntema, Helger; Vissers, Lisenka; Gilissen, Christian
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Recommendations for whole genome sequencing in diagnostics for rare diseases
err2022-05-16
err64
errOAAI
errSouche, Erika; Beltran, Sergi; Brosens, Erwin; Belmont, John W.; Fossum, Magdalena; Riess, Olaf; Gilissen, Christian; Ardeshirdavani, Amin; Houge, Gunnar; van Gijn, Marielle; Clayton-Smith, Jill; Synofzik, Matthis; de Leeuw, Nicole; Deans, Zandra C.; Dincer, Yasemin; Eck, Sebastian H.; van eer Crabben, Saskia; Balasubramanian, Meena; Graessner, Holm; Sturm, Marc; Firth, Helen; Ferlini, Alessandra; Nabbout, Rima; De Baere, Elfride; Liehr, Thomas; Macek, Milan; Matthijs, Gert; Scheffer, Hans; Bauer, Peter; Yntema, Helger G.; Weiss, Marjan M.
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Clinical exome sequencing-Mistakes and caveats
err2022-03-15
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errOAAI
errCorominas, Jordi; Smeekens, Sanne P.; Nelen, Marcel R.; Yntema, Helger G.; Kamsteeg, Erik-Jan; Pfundt, Rolph; Gilissen, Christian
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Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
err2022-02-28
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errOAAI
errVelde, Hedwig M.; Reurink, Janine; Held, Sebastian; Li, Catherina H. Z.; Yzer, Suzanne; Oostrik, Jaap; Weeda, Jack; Haer-Wigman, Lonneke; Yntema, Helger G.; Roosing, Susanne; Pauleikhoff, Laurenz; Lange, Clemens; Whelan, Laura; Dockery, Adrian; Zhu, Julia; Keegan, David J.; Farrar, G. Jane; Kremer, Hannie; Lanting, Cornelis P.; Damme, Markus; Pennings, Ronald J. E.
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Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals
err2021-10-25
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errOAAI
errVan der Schoot, Vyne; Haer-Wigman, Lonneke; Feenstra, Ilse; Tammer, Femke; Oerlemans, Anke J. M.; van Koolwijk, Martine P. A.; van Agt, Frans; Arens, Yvonne H. J. M.; Brunner, Han G.; Vissers, Lisenka E. L. M.; Yntema, Helger G.
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Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
err2021-08-01
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errOAAI
errvan der Sanden, Bart P. G. H.; Corominas, Jordi; de Groot, Michelle; Pennings, Maartje; Meijer, Rowdy P. P.; Verbeek, Nienke; van de Warrenburg, Bart; Schouten, Meyke; Yntema, Helger G.; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Gilissen, Christian
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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice
err2021-06-01
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errOAAI
errSallevelt, Suzanne C. E. H.; Stegmann, Alexander P. A.; de Koning, Bart; Velter, Crool; Steyls, Anja; van Esch, Melanie; Lakeman, Phillis; Yntema, Helger; Esteki, Masoud Zamani; de Die-Smulders, Christine E. M.; Gilissen, Christian; van den Wijngaard, Arthur; Brunner, Han G.; Paulussen, Aimee D. C.
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Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss
err2021-05-06
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errOAAI
errBueno, Andre S.; Nunes, Kelly; Dias, Alex M. M.; Alves, Leandro U.; Mendes, Beatriz C. A.; Sampaio-Silva, Juliana; Smits, Jeroen; Yntema, Helger G.; Meyer, Diogo; Lezirovitz, Karina; Mingroni-Netto, Regina C.
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The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects
err2021-04-01
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errOAAI
errFridman, Hila; Yntema, Helger G.; Magi, Reedik; Andreson, Reidar; Metspalu, Andres; Mezzavila, Massimo; Tyler-Smith, Chris; Xue, Yali; Carmi, Shai; Levy-Lahad, Ephrat; Gilissen, Christian; Brunner, Han G.
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