• 2976 Citations
  • 29 h-Index
19942019

Research output per year

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Research Output

  • 2976 Citations
  • 29 h-Index
  • 77 Article
  • 1 Comment/debate
  • 1 Review article

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
  • 3 Scopus citations

    A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

    Lee, E., Le, T., Zhu, Y., Elakis, G., Turner, A., Lo, W., Venselaar, H., Verrenkamp, C. A., Snow, N., Mowat, D., Kirk, E. P., Sachdev, R., Smith, J., Brown, N. J., Wallis, M., Barnett, C., McKenzie, F., Freckmann, M. L., Collins, F., Chopra, M. & 19 others, Gregersen, N., Hayes, I., Rajagopalan, S., Tan, T. Y., Stark, Z., Savarirayan, R., Yeung, A., Adès, L., Gattas, M., Gibson, K., Gabbett, M., Amor, D. J., Lattanzi, W., Boyd, S., Haan, E., Gianoutsos, M., Cox, T. C., Buckley, M. F. & Roscioli, T., Sep 1 2018, In : Genetics in Medicine. 20, 9, p. 1061-1068 8 p.

    Research output: Contribution to journalArticle

  • 9 Scopus citations

    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., Arcovito, A., Parolini, O., Tamburrini, G., Bernardini, C., Boyd, S. & Lattanzi, W., Jul 1 2018, In : Bone. 112, p. 58-70 13 p.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element

    Justice, C. M., Kim, J., Kim, S. D., Kim, K., Yagnik, G., Cuellar, A., Carrington, B., Lu, C. L., Sood, R., Boyd, S. & Wilson, A. F., Nov 1 2017, In : American Journal of Medical Genetics, Part A. 173, 11, p. 2893-2897 5 p.

    Research output: Contribution to journalArticle

  • 3 Scopus citations