• 3027 Citations
  • 29 h-Index
1994 …2020

Research output per year

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Research Output

  • 3027 Citations
  • 29 h-Index
  • 80 Article
  • 1 Comment/debate
  • 1 Review article

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

The National Birth Defects Prevention Study, Jan 1 2020, (Accepted/In press) In : Human Genetics.

Research output: Contribution to journalArticle

  • 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., Drissi, H., Kim, J., Lattanzi, W. & Boyadjiev, S. A., Aug 2020, In : Bone. 137, 115395.

    Research output: Contribution to journalArticle

  • SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

    Calpena, E., Cuellar, A., Bala, K., Swagemakers, S. M. A., Koelling, N., McGowan, S. J., Phipps, J. M., Balasubramanian, M., Cunningham, M. L., Douzgou, S., Lattanzi, W., Morton, J. E. V., Shears, D., Weber, A., Wilson, L. C., Lord, H., Lester, T., Johnson, D., Wall, S. A., Twigg, S. R. F. & 3 others, Mathijssen, I. M. J., Boyadjiev, S. A. & Wilkie, A. O. M., Jan 1 2020, (Accepted/In press) In : Genetics in Medicine.

    Research output: Contribution to journalArticle

    Open Access
  • Corrigendum to “BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche” [Bone 112 (July 2018) 58–70] (Bone (2018) 112 (58–70), (S8756328218301595), (10.1016/j.bone.2018.04.013))

    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., Arcovito, A., Parolini, O., Tamburrini, G., Bernardini, C., Boyd, S. & Lattanzi, W., Apr 1 2019, In : Bone. 121, 1 p.

    Research output: Contribution to journalComment/debate

  • Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial

    Schiffmann, R., Goker-Alpan, O., Holida, M., Giraldo, P., Barisoni, L., Colvin, R. B., Jennette, C. J., Maegawa, G., Boyd, S., Gonzalez, D., Nicholls, K., Tuffaha, A., Atta, M. G., Rup, B., Charney, M. R., Paz, A., Szlaifer, M., Alon, S., Brill-Almon, E., Chertkoff, R. & 1 others, Hughes, D., Jan 1 2019, In : Journal of Inherited Metabolic Disease.

    Research output: Contribution to journalArticle

    Open Access
  • 6 Scopus citations