Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype
2010 · The American Journal of Human Genetics · 254 citations
https://doi.org/10.1016/j.ajhg.2010.06.015
W
Willy M. Nillesen
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Willy M. Nillesen is an academic researcher. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Genetics and Neurodevelopmental Disorders & Protein Tyrosine Phosphatases. The author has an h-index of 35, co-authored 67 publications.
Papers by this author
worksGenomic microarrays in mental retardation: A practical workflow for diagnostic applications
2008 · Human Mutation · 154 citations
https://doi.org/10.1002/humu.20883
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
2008 · European Journal of Human Genetics · 148 citations
https://doi.org/10.1038/ejhg.2008.208
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics
2003 · European Journal of Human Genetics · 48 citations
https://doi.org/10.1038/sj.ejhg.5201080
Variants in<i>CUL4B</i>are Associated with Cerebral Malformations
2014 · Human Mutation · 45 citations
https://doi.org/10.1002/humu.22718
Supplementary Material for: Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients
2013 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.5124913
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