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Nature Genetics|March 20, 2012
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndromeGijs W E Santen, Emmelien Aten, Yu Sun, et al.
American Journal of Medical Genetics. Part A|November 16, 2022
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationshipsPeter Lauffer, Gerard Pals, Aeilko H Zwinderman, et al.
European Journal of Human Genetics : EJHG|June 25, 2009
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisFleur S Van Dijk, Isabel M Nesbitt, Peter G J Nikkels, et al.
International Journal of Cardiology|September 25, 2012
MRI-assessed regional pulse wave velocity for predicting absence of regional aorta luminal growth in marfan syndromeEleanore S J Kröner, Arthur J H A Scholte, Patrick J H de Koning, et al.
Journal of Magnetic Resonance Imaging : JMRI|June 26, 2012
Evaluation of sampling density on the accuracy of aortic pulse wave velocity from velocity-encoded MRI in patients with Marfan syndromeEleanore S J Kröner, Rob J van der Geest, Arthur J H A Scholte, et al.
Human Mutation|June 17, 2018
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disordersEline Overwater, Luisa Marsili, Marieke J H Baars, et al.
Clinical Genetics|January 4, 2020
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patientLuisa Marsili, Eline Overwater, Nadine Hanna, et al.
Clinical Proteomics|February 19, 2021
Time dependent effect of cold ischemia on the phosphoproteome and protein kinase activity in fresh-frozen colorectal cancer tissue obtained from patientsTineke E Buffart, Rosanne A H M van den Oord, Adriënne van den Berg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 2, 2022
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohortLisa M van den Bersselaar, Judith M A Verhagen, Jos A Bekkers, et al.
Frontiers in Genetics|October 30, 2018
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial CauseTom E J Theunissen, Minh Nguyen, Rick Kamps, et al.
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