Luisa Bonafé

Nosology and classification of genetic skeletal disorders: 2015 revision

Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall et al. · American Journal of Medical Genetics Part A · 2015 · 556 citations

Osteopathy, Genetics, Genetic Epidemiology +20

The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

Toshiyuki Fukada, Natacha Civic, Tatsuya Furuichi et al. · PLoS ONE · 2008 · 287 citations · Full text

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Deborah Krakow, Stephen P. Robertson, Lily King et al. · Nature Genetics · 2004 · 287 citations · Full text

Developmental Biology, Bone Morphogenic Protein, Genetic Disorder +10

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 285 citations · Full text

Chromatin, Genome Instability, Cause Coats +9

Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

Luisa Bonafé, Beat Thöny, Johann Penzien et al. · The American Journal of Human Genetics · 2001 · 233 citations · Full text

Molecular Neuroscience, Biochemistry, Natural Sciences +2