I. van der Bürgt

Normal phenotype in two brothers with a full FMR1 mutation

H. J. M. Smeets, Anne Smits, Coleta Verheij et al. · Human Molecular Genetics · 1995 · 178 citations

Epigenetic Change, Genetics, Pathology +17

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

Brigitte H. W. Faas, I. van der Bürgt, Angelique J. A. Kooper et al. · Journal of Medical Genetics · 2010 · 144 citations · Full text

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni et al. · Human Molecular Genetics · 2014 · 142 citations · Full text

Engineering, Genetics, Pathology +17

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

C. T. R. M. Schrander‐Stumpel, Peter Meinecke, Golder N. Wilson et al. · European Journal of Pediatrics · 1994 · 116 citations

Medicine, Further Delineation, Pathology +2

Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

AL Schulz, Beate Albrecht, I. van der Bürgt et al. · Clinical Genetics · 2007 · 108 citations