Fingerprint Fingerprint is based on mining the text of the persons 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
Cystic Fibrosis Medicine & Life Sciences
Hearing Medicine & Life Sciences
Genetic Databases Medicine & Life Sciences
Genome Medicine & Life Sciences

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Research Output 2001 2017

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

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 In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Practice Guidelines
Spine
Airway Extubation
Perioperative Care
Polysomnography
Craniosynostoses
Craniofacial Dysostosis
Head Protective Devices
Skull
Medical Records

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 In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Mobius Syndrome
Muscle Hypotonia
North American Indians
Cleft Palate
Siblings

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: Contribution to journalArticle

Germ-Line Mutation
Hematologic Neoplasms
Mutation
mutation
germ cells