Marie-Claude Addor

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 182 citations · Full text

Trends in congenital anomalies in Europe from 1980 to 2012

Joan K. Morris, Anna Springett, Ruth Greenlees et al. · PLoS ONE · 2018 · 158 citations · Full text

Metformin exposure in first trimester of pregnancy and risk of all or specific congenital anomalies: exploratory case-control study

Joanne Given, Maria Loane, Ester Garne et al. · BMJ · 2018 · 128 citations · Full text

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

Andreas Zankl, Emma L. Duncan, Paul Leo et al. · The American Journal of Human Genetics · 2012 · 110 citations · Full text

Sclerostin, Bone Morphogenic Protein, Genetics +6

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Graciana Jaureguiberry, Muriel de La Dure‐Molla, David Parry et al. · Nephron Physiology · 2013 · 102 citations · Full text