Concepedia

Luisa Bonafé

LB

Statistics

Publications

83

Citations

6.8K

H-Index

46

Active since

1998

Affiliations

University Hospital of Lausanne(Current)

University of Lausanne

University of Freiburg

University Children's Hospital Zurich

University of Toronto

Luisa Bonafé is an author at University Hospital of Lausanne specializing in molecular genetics, genetics, and life sciences.

Publications per year

1998–2021

83

Publications

83

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 · 565 citations

, , +15

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

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 291 citations · Full text

, , +13

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 · 290 citations · Full text

, , +17

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 · 289 citations · Full text

, , +14

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 · 237 citations · Full text

, , +13

1–5 of 83