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.

  • 9 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Cystic Fibrosis Medicine & Life Sciences
Genetic Databases Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Cystic Fibrosis Transmembrane Conductance Regulator Medicine & Life Sciences
Proteins Medicine & Life Sciences

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Research Output 1990 2017

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

Weiss, K., Wigby, K., Fannemel, M., Henderson, L. B., Beck, N., Ghali, N., Study, D. D. D., Anderlid, B. M., Lundin, J., Hamosh, A., Jones, M. C., Ghedia, S., Muenke, M. & Kruszka, P. Aug 1 2017 In : European Journal of Human Genetics. 25, 8, p. 946-951 6 p.

Research output: Research - peer-reviewArticle

Agenesis of Corpus Callosum
Haploinsufficiency
Proteins
Craniofacial Abnormalities
Exome

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Boycott, K. M. , Rath, A. , Chong, J. X. , Hartley, T. , Alkuraya, F. S. , Baynam, G. , Brookes, A. J. , Brudno, M. , Carracedo, A. , den Dunnen, J. T. , Dyke, S. O. M. , Estivill, X. , Goldblatt, J. , Gonthier, C. , Groft, S. C. , Gut, I. , Hamosh, A. , Hieter, P. , Höhn, S. , Hurles, M. E. & 20 others Kaufmann, P., Knoppers, B. M., Krischer, J. P., Macek, M., Matthijs, G., Olry, A., Parker, S., Paschall, J., Philippakis, A. A., Rehm, H. L., Robinson, P. N., Sham, P. C., Stefanov, R., Taruscio, D., Unni, D., Vanstone, M. R., Zhang, F., Brunner, H., Bamshad, M. J. & Lochmüller, H. May 4 2017 In : American Journal of Human Genetics. 100, 5, p. 695-705 11 p.

Research output: Research - peer-reviewComment/debate

International Cooperation
Inborn Genetic Diseases
Rare Diseases
Research
Genetic Association Studies

"Matching" consent to purpose: The example of the Matchmaker Exchange

Dyke, S. O. M., Knoppers, B. M., Hamosh, A., Firth, H. V., Hurles, M., Brudno, M., Boycott, K. M., Philippakis, A. A. & Rehm, H. L. 2017 (Accepted/In press) In : Human Mutation.

Research output: Research - peer-reviewArticle

Information Dissemination
Rare Diseases
Privacy
Genetic Association Studies
Research Personnel

Searching online mendelian inheritance in man (OMIM): A knowledgebase of human genes and genetic phenotypes

Amberger, J. S. & Hamosh, A. Jun 1 2017 In : Current Protocols in Bioinformatics. 2017, p. 1.2.1-1.2.12

Research output: Research - peer-reviewArticle

Genetic Databases
Knowledge Bases
Medical Genetics
Phenotype
Genes

The human phenotype ontology in 2017

Köhler, S. , Vasilevsky, N. A. , Engelstad, M. , Foster, E. , McMurry, J. , Aymé, S. , Baynam, G. , Bello, S. M. , Boerkoel, C. F. , Boycott, K. M. , Brudno, M. , Buske, O. J. , Chinnery, P. F. , Cipriani, V. , Connell, L. E. , Dawkins, H. J. S. , DeMare, L. E. , Devereau, A. D. , De Vries, B. B. A. , Firth, H. V. & 39 others Freson, K., Greene, D., Hamosh, A., Helbig, I., Hum, C., Jähn, J. A., James, R., Krause, R., Laulederkind, S. J. F., Lochmüller, H., Lyon, G. J., Ogishima, S., Olry, A., Ouwehand, W. H., Pontikos, N., Rath, A., Schaefer, F., Scott, R. H., Segal, M., Sergouniotis, P. I., Sever, R., Smith, C. L., Straub, V., Thompson, R., Turner, C., Turro, E., Veltman, M. W. M., Vulliamy, T., Yu, J., Von Ziegenweidt, J., Zankl, A., Züchner, S., Zemojtel, T., Jacobsen, J. O. B., Groza, T., Smedley, D., Mungall, C. J., Haendel, M. & Robinson, P. N. Jan 1 2017 In : Nucleic Acids Research. 45, D1, p. D865-D876

Research output: Research - peer-reviewArticle

Phenotype
Precision Medicine
Translational Medical Research
Vocabulary
Nucleic Acid Databases