Anneke T. Vulto‐van Silfhout

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Köhler, Sandra C. Doelken, Chris Mungall et al. · Nucleic Acids Research · 2013 · 834 citations · Full text

Engineering, Genetics, Updated Hpo Database +19

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld et al. · Nature Genetics · 2014 · 734 citations · Full text

Developmental Biology, Developmental Genetics, Genetics +8

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 214 citations

Genetics, Genetic Epidemiology, Pathology +20

Update on Kleefstra Syndrome

Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen et al. · Molecular Syndromology · 2011 · 178 citations · Full text

Down Syndrome, Chromatin, Developmental Biology +15