Jan M. Cobben

PPIB Mutations Cause Severe Osteogenesis Imperfecta

Fleur S. van Dijk, I. M. Nesbitt, Eline H. Zwikstra et al. · The American Journal of Human Genetics · 2009 · 299 citations · Full text

Medicine, Genetics, Molecular Genetics +9

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Alexander Hoischen, Bregje W.M. van Bon, Benjamín Rodríguez‐Santiago et al. · Nature Genetics · 2011 · 277 citations

Life Sciences, Genetics, Molecular Genetics +3

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

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

Mijke M.M. Verhagen, James I. Last, Frans B.L. Hogervorst et al. · Human Mutation · 2011 · 172 citations

Life Sciences, Genetics, Molecular Genetics +17

Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants

Denise van der Linde, Ingrid M.B.H. van de Laar, Aida M. Bertoli‐Avella et al. · Journal of the American College of Cardiology · 2012 · 150 citations

Medicine, Cardiology, Genetics +11