Eveline Boudin

Bone Overgrowth-associated Mutations in the LRP4 Gene Impair Sclerostin Facilitator Function

Olivier Leupin, Elke Piters, Christine Halleux et al. · Journal of Biological Chemistry · 2011 · 297 citations · Full text

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone

Igor Fijałkowski, Ellen Geets, Ellen Steenackers et al. · Journal of Bone and Mineral Research · 2016 · 78 citations

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal et al. · The American Journal of Human Genetics · 2020 · 50 citations · Full text

Developmental Anomaly, Mosaic Variants, Developmental Biology +9

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

Mathilde Huckert, Corinne Stoetzel, Supawich Morkmued et al. · Human Molecular Genetics · 2015 · 48 citations · Full text

Genetics, Pathology, Gene Cause Brachyolmia +16

Variation in the Kozak sequence of WNT16 results in an increased translation and is associated with osteoporosis related parameters

Gretl Hendrickx, Eveline Boudin, Igor Fijałkowski et al. · Bone · 2013 · 44 citations

Bone Disease, Bone Health, Genetics +9