An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

by Anna Tracewska-Siemiątkowska, Lonneke Haer-Wigman, Danielle G. M. Bosch, Deborah Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Maartje van de Vorst, Nanna Dahl Rendtorff, Claes Möller, Ulrika Kjellström, Sten Andréasson, Frans P. M. Cremers, Lisbeth Tranebjærg
Published 2017-12-01

Genetic Spectrum of <i>ABCA4</i>-Associated Retinal Degeneration in Poland

by Anna M. Tracewska, Beata Kocyła-Karczmarewicz, Agnieszka Rafalska, Joanna Murawska, Joanna Jakubaszko-Jablonska, Małgorzata Rydzanicz, Piotr Stawiński, Elżbieta Ciara, Muhammad Imran Khan, Arjen Henkes, Alexander Hoischen, Christian Gilissen, Maartje van de Vorst, Frans P. M. Cremers, Rafał Płoski, Krystyna H. Chrzanowska
Published 2019-11-01

Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline

by Brechtje Hoegen, Alan Zammit, Albert Gerritsen, Udo F. H. Engelke, Steven Castelein, Maartje van de Vorst, Leo A. J. Kluijtmans, Marleen C. D. G. Huigen, Ron A. Wevers, Alain J. van Gool, Christian Gilissen, Karlien L. M. Coene, Purva Kulkarni
Published 2021-08-01

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses

by Rosanne C. van Deuren, Peer Arts, Giulio Cavalli, Martin Jaeger, Marloes Steehouwer, Maartje van de Vorst, Christian Gilissen, Leo A. B. Joosten, Charles A. Dinarello, Musa M. Mhlanga, Vinod Kumar, Mihai G. Netea, Frank L. van de Veerdonk, Alexander Hoischen
Published 2021-05-01

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.

by Romy van de Putte, Charlotte H W Wijers, Heiko Reutter, Sita H Vermeulen, Carlo L M Marcelis, Erwin Brosens, Paul M A Broens, Markus Homberg, Michael Ludwig, Ekkehart Jenetzky, Nadine Zwink, Cornelius E J Sloots, Annelies de Klein, Alice S Brooks, Robert M W Hofstra, Sophie A C Holsink, Loes F M van der Zanden, Tessel E Galesloot, Paul Kwong-Hang Tam, Marloes Steehouwer, Rocio Acuna-Hidalgo, Maartje van de Vorst, Lambertus A Kiemeney, Maria-Mercè Garcia-Barceló, Ivo de Blaauw, Han G Brunner, Nel Roeleveld, Iris A L M van Rooij
Published 2019-01-01

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

by Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen
Published 2019-06-01