Anne Philippi

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Ruthie E. Amir, Ignatia B. Van den Veyver, Rebecca Schultz et al. · Annals of Neurology · 2000 · 345 citations

Mendelian Disorder, Genetic Disorder, Genetics +15

Structural clusters of evolutionary trace residues are statistically significant and common in proteins

Srinivasan Madabushi, Hui Yao, M. S. Marsh et al. · Journal of Molecular Biology · 2002 · 203 citations

Evolutionary Trace Residues, Biochemistry, Biomolecular Structure Prediction +12

A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q

Martine Vaxillaire, Valérie Boccio, Anne Philippi et al. · Nature Genetics · 1995 · 195 citations

Genetic Determinant, Developmental Biology, Genetic Disorder +8

Evolutionary Trace of G Protein-coupled Receptors Reveals Clusters of Residues That Determine Global and Class-specific Functions

Srinivasan Madabushi, Alecia K. Gross, Anne Philippi et al. · Journal of Biological Chemistry · 2004 · 191 citations · Full text

Heterozygous<i>HTRA1</i>mutations are associated with autosomal dominant cerebral small vessel disease

Edgard Verdura, Dominique Hervé, Eva Scharrer et al. · Brain · 2015 · 186 citations · Full text