- A new pathogenic variant in the TRIOBP associated with profound deafness is remediable with cochlear implantation(2021)
Auteurs: Ahmet M. Tekin, Geert de Ceulaer, Paul Govaerts, Yildirim Bayazit, Wim Wuyts, Vedat Topsakal
Pagina's: 76 - 84
- A new pathogenic variant in POU3F4 causing deafness due to an incomplete partition of the cochlea paved the way for innovative surgery(2021)
Auteurs: Ahmet M. Tekin, Marco Matulic, Wim Wuyts, Masoud Zoka Assadi, Griet Mertens, Vincent Van Rompaey, Yongxin Li, Paul Van de Heyning, Vedat Topsakal
- Etiological work-up in referrals from neonatal hearing screening(2020)
Auteurs: An Boudewyns, Jenneke van den Ende, Frank Declau, Wim Wuyts, Nils Peeters, Anouk Hofkens-Van den Brandt, Guy Van Camp
Pagina's: 1240 - 1248
- Adams-Oliver syndrome caused by mutations of the EOGT gene(2019)
Auteurs: Kim C. Schroeder, Duygu Duman, Mustafa Tekin, Denny Schanze, Maja Sukalo, Josephina Meester, Wim Wuyts, Martin Zenker
- RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas(2019)
Auteurs: Gavin R. Oliver, Patrick R. Blackburn, Marissa S. Ellingson, Erin Conboy, Filippo Pinto e Vairo, Matthew Webley, Erik Thorland, Matthew Ferber, Els Van Hul, Ilse van der Werf, et al.
- The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism(2018)
Auteurs: Chandran Ka, Julie Guellec, Xavier Pepermans, Caroline Kannengiesser, Cecile Ged, Wim Wuyts, David Cassiman, Victor de Ledinghen, Bruno Varet, Caroline de Kerguenec, et al.
Pagina's: 1796 - 1805
- Role of targeted next generation sequencing in the etiological work-up of congenitally deaf children(2018)
Auteurs: An Boudewyns, Jenneke van den Ende, Manou Sommen, Wim Wuyts, Nils Peeters, Paul Van de Heyning, Guy Van Camp
Pagina's: 732 - 738
- Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment(2018)
Auteurs: Sebastien P. F. JanssensdeVarebeke, Guy Van Camp, Nils Peeters, Ellen Elinck, Josine Widdershoven, Tony Cox, Kristof Deben, Katrien Ketelslagers, Tom Crins, Wim Wuyts
Pagina's: 587 - 591
- Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort(2018)
Auteurs: Josephina Meester, Maja Sukalo, Kim C. Schröder, Denny Schanze, Gareth Baynam, Guntram Borck, Nuria C. Bramswig, Duygu Duman, Brigitte Gilbert-Dussardier, Muriel Holder-Espinasse, et al.
Pagina's: 1246 - 1261
- Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency(2018)
Auteurs: Monique Fontaine, Isabelle Kim, Anne-Frederique Dessein, Karine Mention-Mulliez, Dries Dobbelaere, Claire Douillard, Guilhem Sole, Manuel Schiff, Roland Jaussaud, Caroline Espil-Taris, et al.
Pagina's: 441 - 448