Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 3 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Achondroplasia Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Growth Medicine & Life Sciences
Chromosome Deletion Medicine & Life Sciences
Cystic Fibrosis Medicine & Life Sciences

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Research Output 2001 2017

  • 54 Article
  • 1 Chapter
  • 1 Conference contribution
  • 1 Review article
Birth Intervals
Medical Records

Best practices in peri-operative management of patients with skeletal dysplasias

White, K. K., Bompadre, V., Goldberg, M. J., Bober, M. B., Cho, T. J., Hoover-Fong, J. E., Irving, M., Mackenzie, W. G., Kamps, S. E., Raggio, C., Redding, G. J., Spencer, S. S., Savarirayan, R. & Theroux, M. C. 2017 (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Research - peer-reviewArticle

Practice Guidelines
Airway Extubation
Perioperative Care
Craniofacial Dysostosis
Head Protective Devices
Growth and Development

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome

Telegrafi, A., Webb, B. D., Robbins, S. M., Speck-Martins, C. E., Fitzpatrick, D., Fleming, L., Redett, R., Dufke, A., Houge, G., van Harssel, J. J. T., Verloes, A., Robles, A., Manoli, I., Engle, E. C., Jabs, E. W., Valle, D., Carey, J., Hoover-Fong, J. E. & Sobreira, N. L. M. 2017 (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Research - peer-reviewArticle

Mobius Syndrome
Muscle Hypotonia
Cleft Palate
Myopathy, congenital nonprogressive with Moebius and Robin sequences

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Acuna-Hidalgo, R. , Deriziotis, P. , Steehouwer, M. , Gilissen, C. , Graham, S. A. , van Dam, S. , Hoover-Fong, J. , Telegrafi, A. B. , Destree, A. , Smigiel, R. , Lambie, L. A. , Kayserili, H. , Altunoglu, U. , Lapi, E. , Uzielli, M. L. , Aracena, M. , Nur, B. G. , Mihci, E. , Moreira, L. M. A. , Borges Ferreira, V. & 26 others Horovitz, D. D. G., da Rocha, K. M., Jezela-Stanek, A., Brooks, A. S., Reutter, H., Cohen, J. S., Fatemi, A., Smitka, M., Grebe, T. A., Di Donato, N., Deshpande, C., Vandersteen, A., Marques Lourenço, C., Dufke, A., Rossier, E., Andre, G., Baumer, A., Spencer, C., McGaughran, J., Franke, L., Veltman, J. A., De Vries, B. B. A., Schinzel, A., Fisher, S. E., Hoischen, A. & van Bon, B. W. Mar 1 2017 In : PLoS Genetics. 13, 3, e1006683

Research output: Research - peer-reviewArticle

Germ-Line Mutation
Hematologic Neoplasms
Schinzel-Giedion syndrome