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.

Mutation Medicine & Life Sciences
Cystic Fibrosis Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genetic Databases Medicine & Life Sciences
Genes Medicine & Life Sciences
Cystic Fibrosis Transmembrane Conductance Regulator Medicine & Life Sciences
Medical Genetics Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences

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Research Output 1990 2018

Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: Points to consider-A statement of the American College of Medical Genetics and Genomics (ACMG)

Bush, L. W., Beck, A. E., Biesecker, L. G., Evans, J. P., Hamosh, A., Holm, I. A., Martin, C. L., Richards, C. S. & Rehm, H. L. Feb 1 2018 In : Genetics in Medicine. 20, 2, p. 169-171 3 p.

Research output: Contribution to journalArticle

Genetic Testing
Genetic Research

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: Contribution to journalArticle

Agenesis of Corpus Callosum
Craniofacial Abnormalities
Zinc Fingers

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: Contribution to journalComment/debate

International Cooperation
Inborn Genetic Diseases
Rare Diseases
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: Contribution to journalArticle

Information Dissemination
Rare Diseases
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: Contribution to journalArticle

Online searching
Genetic Databases
Knowledge Bases
Medical Genetics