Baujat, Geneviève

MAFB Determines Human Macrophage Anti-Inflammatory Polarization: Relevance for the Pathogenic Mechanisms Operating in Multicentric Carpotarsal Osteolysis

Cuevas, V. D., Anta, L., Samaniego, R., Orta-Zavalza, E., Vladimir de la Rosa, J., Baujat, G., Domínguez-Soto, Á., Sánchez-Mateos, P., Escribese, M. M., Castrillo, A., et al. (2017) · The Journal of Immunology

Immune cells in cancerAtherosclerosis and Cardiovascular Diseases

Cited by 82

Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study

Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jønch, A. E., Qureshi, A. Y., et al. (2018) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

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

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Ebstein, F., Küry, S., Most, V., Rosenfelt, C., Scott-Boyer, M.-P., van Woerden, G. M., Besnard, T., Papendorf, J. J., Studencka-Turski, M., Wang, T., et al. (2023) · Science Translational Medicine

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 36

Stratégie craniofaciale pour les faciocraniosténoses

Arnaud, E., Paternoster, G., James, S., Morisseau-Durand, M.-P., Couloigner, V., Diner, P., Tomat, C., Viot-Blanc, V., Fauroux, B., Cormier-Daire, V., et al. (2016) · Annales de Chirurgie Plastique Esthétique

Craniofacial Disorders and TreatmentsOrthodontics and Dentofacial Orthopedics

Cited by 32

Expanding the phenotype in Adams–Oliver syndrome correlating with the genotype

Dudoignon, B., Huber, C., Michot, C., Di Rocco, F., Girard, M., Lyonnet, S., Rio, M., Rabia, S. H., Daire, V. C., & Baujat, G. (2020) · American Journal of Medical Genetics Part A

Congenital limb and hand anomaliesGenomics and Rare Diseases

Cited by 27

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Isidor, B., Ebstein, F., Hurst, A., Vincent, M., Bader, I., Rudy, N. L., Cogne, B., Mayr, J., Brehm, A., Bupp, C., et al. (2022) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 24

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

Dufour, W., Alawbathani, S., Jourdain, A.-S., Asif, M., Baujat, G., Becker, C., Budde, B., Gallacher, L., Georgomanolis, T., Ghoumid, J., et al. (2022) · Genetics in Medicine

Congenital limb and hand anomaliesdental development and anomalies

Cited by 14