Boyadjiev, Simeon A.

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Garbes, L., Kim, K., Rieß, A., Hoyer-Kuhn, H., Beleggia, F., Bevot, A., Kim, M. J., Huh, Y. H., Kweon, H.-S., Savarirayan, R., et al. (2015) · The American Journal of Human Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 173

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Justice, C. M., Yagnik, G., Kim, Y., Peter, I., Jabs, E. W., Erazo, M., Ye, X., Ainehsazan, E., Shi, L., Cunningham, M. L., et al. (2012) · Nature Genetics

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 140

Genetic advances in craniosynostosis

Lattanzi, W., Barba, M., Di Pietro, L., & Boyadjiev, S. A. (2017) · American Journal of Medical Genetics Part A

Craniofacial Disorders and Treatmentsdental development and anomalies

Cited by 129

Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis

Greenwood, J., Flodman, P., Osann, K., Boyadjiev, S. A., & Kimonis, V. (2014) · Genetics in Medicine

Craniofacial Disorders and TreatmentsPectus Deformity Diagnosis and Treatment

Cited by 113

Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes

Heuzé, Y., Martínez‐Abadías, N., Stella, J. M., Arnaud, E., Collet, C., García Fructuoso, G., Alamar, M., Lo, L., Boyadjiev, S. A., Di Rocco, F., et al. (2014) · Birth Defects Research Part A Clinical and Molecular Teratology

Craniofacial Disorders and TreatmentsMorphological variations and asymmetry

Cited by 27

Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis

Cuellar, A., Bala, K., Di Pietro, L., Barba, M., Yagnik, G., Liu, J. L., Stevens, C., Hur, D. J., Ingersoll, R. G., Justice, C. M., et al. (2020) · Bone

Craniofacial Disorders and Treatmentsdental development and anomalies

Cited by 24

BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche

Barba, M., Di Pietro, L., Massimi, L., Geloso, M. C., Frassanito, P., Caldarelli, M., Michetti, F., Della Longa, S., Romitti, P. A., Di Rocco, C., et al. (2018) · Bone

Craniofacial Disorders and TreatmentsBone Metabolism and Diseases

Cited by 19