Federica Conte

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Charlotte W. Ockeloen, Kriti D. Khandelwal, K Dreesen et al. · Genetics in Medicine · 2016 · 79 citations · Full text

Odontology, Developmental Biology, Signal Transduction +9

Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts

Federica Conte, Martin Oti, Jill Dixon et al. · Human Genetics · 2015 · 57 citations · Full text

PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose

Nicol C. Voermans, Nicolai Preisler, Karen L. Madsen et al. · Neuromuscular Disorders · 2017 · 40 citations

Nutrition, Energy Metabolism, Health Sciences +10

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots

Federica Conte, Éva Morava, Nurulamin Abu Bakar et al. · Molecular Genetics and Metabolism · 2020 · 33 citations · Full text

Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs

Monique van Scherpenzeel, Federica Conte, Christian Büll et al. · Glycobiology · 2021 · 30 citations · Full text

Glycobiology, Metabolomic Profiling, Molecular Biology +22