Helger G Yntema (Helger Yntema)

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 7

Top Topics

Mitochondrial Dna

Circulating Tumor Cells

Diabetic Retinopathy

Top Venues

European journal of human genetics : EJHG

Nature communications

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander P A Stegmann, Helger G Yntema, Erik-Jan Kamsteeg, Han Brunner, Alexander Hoischen, Christian Gilissen
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation. Nature communications 14 (1) (2023)
Vyne van der Schoot, Carlijn Damsté, Helger G Yntema, Han G Brunner, Anke J M Oerlemans
Clinical geneticists' views on and experiences with unsolicited findings in next-generation sequencing: "A great technology creating new dilemmas". Journal of genetic counseling (2022)
Erika Souche, Sergi Beltran, Erwin Brosens, John W Belmont, Magdalena Fossum, Olaf Riess, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Marielle E van Gijn, Jill Clayton-Smith, Matthis Synofzik, Nicole de Leeuw, Zandra C Deans, Yasemin Dincer, Sebastian H Eck, Saskia van der Crabben, Meena Balasubramanian, Holm Graessner, Marc Sturm, Helen Firth, Alessandra Ferlini, Rima Nabbout, Elfride De Baere, Thomas Liehr, Milan Macek, Gert Matthijs, Hans Scheffer, Peter Bauer, Helger G Yntema, Janneke M Weiss
Recommendations for whole genome sequencing in diagnostics for rare diseases. European journal of human genetics : EJHG 30 (9) (2022)
Hedwig M Velde, Janine Reurink, Sebastian Held, Catherina H Z Li, Suzanne Yzer, Jaap Oostrik, Jack Weeda, Lonneke Haer-Wigman, Helger G Yntema, Susanne Roosing, Laurenz J B Pauleikhoff, Clemens A Lange, Laura Whelan, Adrian Dockery, Julia Zhu, David J Keegan, Gwyneth Jane Farrar, Hannie Kremer, Cornelis P Lanting, Markus Damme, Ronald J E Pennings
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants. Human genetics 141 (11) (2022)
Bart P G H van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T R M Stumpel, Tjitske Kleefstra, Bert B A de Vries, Martina Ruiterkamp-Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P A Stegmann, Servi J C Stevens, Arthur van den Wijngaard, Han G Brunner, Helger G Yntema, Christian Gilissen, Marcel R Nelen, Lisenka E L M Vissers
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders. European journal of human genetics : EJHG (2022)
Janine Reurink, Adrian Dockery, Dominika Oziębło, Gwyneth Jane Farrar, Monika Ołdak, Jacoline B Ten Brink, Arthur A Bergen, Tuula Rinne, Helger G Yntema, Ronald J E Pennings, L Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S Plomp, M Imran Khan, Erwin van Wijk, Frans P M Cremers, Susanne Roosing, Hannie Kremer
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases. International journal of molecular sciences 22 (12) (2021)
Vyne van der Schoot, Lonneke Haer-Wigman, Ilse Feenstra, Femke Tammer, Anke J M Oerlemans, Martine P A van Koolwijk, Frans van Agt, Yvonne H J M Arens, Han G Brunner, Lisenka E L M Vissers, Helger G Yntema
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals. European journal of human genetics : EJHG (2021)