- Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history(2017)
Authors: Ilse Luyckx, Dorien Proost, Jeroen Hendriks, Johan Saenen, Emeline Van Craenenbroeck, T. Vermeulen, N. Peeters, Wim Wuyts, Inez Rodrigus, Aline Verstraeten, et al.
Pages: 444 - 446
- Targeted next-generation sequencing of 51 genes involved in primary electrical isease(2017)
Authors: Dorien Proost, Johan Saenen, Geert Vandeweyer, Annelies Rotthier, Maaike Alaerts, Emeline Van Craenenbroeck, Joachim Van Crombruggen, Geert Mortier, Wim Wuyts, Christiaan Vrints, et al.
Pages: 445 - 459
- Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections(2017)
Authors: Josephina Meester, Geert Vandeweyer, Isabel Pintelon, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W. Markham, Julie Vogt, Julie Richer, et al.
Pages: 386 - 395
- Adams-Oliver Syndrome(2016)
Authors: Anna Lehman, Wim Wuyts, Millan S. Patel
- Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation(2016)
Authors: Clara Soria-Valles, Dido Carrero, Elisabeth Gabau, Gloria Velasco, Victor Quesada, Clea Barcena, Marleen Moens, Karen Fieggen, Silvia Mohrcken, Martina Owens, et al.
Pages: 776 - 785
- DNA diagnostics of hereditary hearing loss(2016)
Authors: Manou Sommen, Isabelle Schrauwen, Geert Vandeweyer, Nele Boeckx, Jason J. Corneveaux, Jenneke van den Ende, An Boudewyns, Els De Leenheer, Sandra Janssens, Kathleen Claes, et al.
Pages: 812 - 819
- Trichorhinophalangeal syndrome type II presenting with short stature in a child(2016)
Authors: Filiz Hazan, Huseyin A. Korkmaz, Kanay Yararbas, Wim Wuyts, Ajlan Tukun
Pages: 403 - 406
- Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver Syndrome(2015)
Authors: Josephina Meester, Laura Southgate, Anna-Barbara Stittrich, Hanka Venselaar, Sander J. A. Beekmans, Nicolette den Hollander, Emilia K. Bijlsma, Appolonia Helderman-van den Enden, Joke B. G. M. Verheij, Gustavo Glusman, et al.
Pages: 475 - 482
- Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies(2015)
Authors: Laura Southgate, Maja Sukalo, Anastasios S. V. Karountzos, Edward J. Taylor, Claire S. Collinson, Deborah Ruddy, Katie M. Snape, Bruno Dallapiccola, John L. Tolmie, Shelagh Joss, et al.
Pages: 572 - 581
- Performant mutation identification using targeted next-generation sequencing of 14 thoracic aortic aneurysm genes(2015)
Authors: Dorien Proost, Geert Vandeweyer, Josephina Meester, Simone Salemink, Marlies Kempers, Christie Ingram, Nils Peeters, Christiaan Vrints, Ronald V. Lacro, Dan Roden, et al.
Pages: 808 - 814