Concepedia
Statistics
Publications
17
Citations
2K
H-Index
14
Active since
2003
Affiliations
Erasmus MC(Current)
Erasmus University Rotterdam
University Medical Center Groningen
University College London
Leiden University Medical Center
Bianca M. de Graaf is an author at Erasmus MC specializing in genetics, medical genetics, and genetic disorders.
Publications per year
2003–2022
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
Ingrid M.B.H. van de Laar, Rogier A. Oldenburg, Gerard Pals et al. · Nature Genetics · 2011 · 674 citations
Medicine, Cardiology, Molecular Genetics +11
Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections
Aida M. Bertoli‐Avella, Elisabeth Gillis, Hiroko Morisaki et al. · Journal of the American College of Cardiology · 2015 · 297 citations · Full text
Medicine, Cardiology, Genetics +16
A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia
John C. van Swieten, Esther Brusse, Bianca M. de Graaf et al. · The American Journal of Human Genetics · 2003 · 295 citations · Full text
Life Sciences, Genetics, Neurology +13
Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
Ingrid M.B.H. van de Laar, Denise van der Linde, E.H. Oei et al. · Journal of Medical Genetics · 2011 · 251 citations
Medicine, Genetics, Molecular Genetics +15
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Danny Halim, Erwin Brosens, Françoise Müller et al. · The American Journal of Human Genetics · 2017 · 83 citations · Full text
Life Sciences, Genetics, Molecular Genetics +10
1–5 of 17