Alessia David

Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?

Sirawit Ittisoponpisan, Suhail A. Islam, Tarun Khanna et al. · Journal of Molecular Biology · 2019 · 503 citations · Full text

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Louise Metherell, J. Paul Chapple, Sadani N. Cooray et al. · Nature Genetics · 2005 · 444 citations

Mendelian Disorder, Autoimmune Disease, New Interacting Partner +9

Protein-protein interaction sites are hot spots for disease-associated nonsynonymous SNPs

Alessia David, Rozaimi Razali, Mark N. Wass et al. · Human Mutation · 2011 · 187 citations

<i> <scp>IGSF</scp> 10 </i> mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty

Sasha Howard, Leonardo Guasti, Gerard Ruiz‐Babot et al. · EMBO Molecular Medicine · 2016 · 137 citations · Full text

The Contribution of Missense Mutations in Core and Rim Residues of Protein–Protein Interfaces to Human Disease

Alessia David, Michael J.E. Sternberg · Journal of Molecular Biology · 2015 · 132 citations · Full text