• 2928 Citations
  • 28 h-Index
19942019
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Fingerprint Dive into the research topics where Simeon Boyd is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 3 Similar Profiles
Craniosynostoses Medicine & Life Sciences
Mutation Medicine & Life Sciences
Bladder Exstrophy Medicine & Life Sciences
Genes Medicine & Life Sciences
Sutures Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Pelizaeus-Merzbacher Disease Medicine & Life Sciences
Endoplasmic Reticulum Medicine & Life Sciences

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Research Output 1994 2019

  • 2928 Citations
  • 28 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

Craniosynostoses
Cilia
Osteogenesis
Sutures
Italy
1 Citation (Scopus)

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
Enzyme Replacement Therapy
Fabry Disease
Clinical Trials, Phase I
Kidney
Half-Life
9 Citations (Scopus)

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

High-Throughput Nucleotide Sequencing
Craniosynostoses
New Zealand
Genes
Cranial Sutures
1 Citation (Scopus)

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

Bardet-Biedl Syndrome
Craniosynostoses
Cilia
Osteogenesis
Sutures
3 Citations (Scopus)

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

Craniosynostoses
Alleles
Renilla Luciferases
Chromosomes, Human, Pair 20
Gene Transfer Techniques