Huber, Céline

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

Doyard, M., Bacrot, S., Huber, C., Di Rocco, M., Goldenberg, A., Aglan, M. S., Brunelle, P., Temtamy, S., Michot, C., Otaify, G. A., et al. (2018) · Journal of Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 75

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

Otsuji, S., Nishio, Y., Tsujita, M., Rio, M., Huber, C., Antón-Plágaro, C., Mizuno, S., Kawano, Y., Miyatake, S., Simon, M., et al. (2023) · Journal of Medical Genetics

Cellular transport and secretionGenomics and Rare Diseases

Cited by 19

Deep intronic NIPBL variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis

Rondeau, S., Huber, C., Kerkhof, J., Sadikovic, B., & Cormier-Daire, V. (2026) · European Journal of Human Genetics

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 0