H
Hans Scheffer
Researcher at Radboud University Nijmegen
Publications - 224
Citations - 13950
Hans Scheffer is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Gene & Exome sequencing. The author has an hindex of 63, co-authored 222 publications receiving 12657 citations. Previous affiliations of Hans Scheffer include Radboud University Nijmegen Medical Centre & Life Sciences Institute.
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Journal ArticleDOI
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt,Marjolein H. Willemsen,Bregje W.M. van Bon,Tjitske Kleefstra,Helger G. Yntema,Thessa Kroes,Anneke T. Vulto-van Silfhout,David A. Koolen,Petra de Vries,Christian Gilissen,Marisol del Rosario,Alexander Hoischen,Hans Scheffer,Bert B.A. de Vries,Han G. Brunner,Joris A. Veltman,Lisenka E.L.M. Vissers +16 more
TL;DR: De novo mutations represent an important cause of intellectual disability; exome sequencing was used as an effective diagnostic strategy for their detection.
Journal ArticleDOI
Guidelines for diagnostic next-generation sequencing.
Gert Matthijs,Erika Souche,Marielle Alders,Anniek Corveleyn,Sebastian Eck,Ilse Feenstra,Valerie Race,Erik A. Sistermans,Marc Sturm,Marjan M. Weiss,Helger G. Yntema,Egbert Bakker,Hans Scheffer,Peter Bauer +13 more
TL;DR: These guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders seem to be valuable for the harmonization and quality assurance of NGS diagnostics in Europe.
Journal ArticleDOI
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
J. van Reeuwijk,Mirian C. H. Janssen,C. van der Elzen,D. Beltran Valero de Bernabe,Patrizia Sabatelli,Luciano Merlini,M. Boon,Hans Scheffer,Martin Brockington,Francesco Muntoni,Martijn A. Huynen,Aad Verrips,Christopher A. Walsh,Peter G. Barth,Han G. Brunner,J.H.L.M. van Bokhoven +15 more
TL;DR: Immunohistochemistry in muscle showed severely reduced levels of glycosylated α-DG, which is consistent with the postulated role for POMT2 in the O-mannosylation pathway, and a fourth causative gene for WWS was uncovered.
Journal ArticleDOI
Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.
Carla G. van El,Martina C. Cornel,Pascal Borry,Ros Hastings,Florence Fellmann,Shirley Hodgson,Heidi Howard,Heidi Howard,Anne Cambon-Thomsen,Anne Cambon-Thomsen,Bartha Maria Knoppers,Hanne Meijers-Heijboer,Hans Scheffer,Lisbeth Tranebjærg,Lisbeth Tranebjærg,Lisbeth Tranebjærg,Wybo Dondorp,Guido de Wert +17 more
TL;DR: Focusing on the clinical diagnostics setting, this paper is intended to contribute to the discussion and the development of guidelines in this fast-moving field, and provide recommendations for health-care professionals.