Yvonne Hilhorst‐Hofstee
Leiden University Medical Center(NL)
Publications by Year
Research Areas
Connective tissue disorders research, Aortic Disease and Treatment Approaches, Genomic variations and chromosomal abnormalities, Aortic aneurysm repair treatments, Cardiac Valve Diseases and Treatments
Most-Cited Works
- → The revised Ghent nosology for the Marfan syndrome: Table 1(2010)2,184 cited
- → Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis(2011)663 cited
- → Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome(2012)349 cited
- → Homozygous and Heterozygous Expression of a Novel Insulin-Like Growth Factor-I Mutation(2005)312 cited
- → SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype(2011)297 cited
- → Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome(2011)249 cited
- → Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances(2009)167 cited
- → A mutation update on the LDS-associated genesTGFB2/3andSMAD2/3(2018)162 cited
- → Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants(2012)147 cited
- → Phenotypes and genotypes in individuals with SMC1A variants(2017)96 cited