1990 …2018
If you made any changes in Pure these will be visible here soon.

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

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

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1990 2018

Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education

Lee-Barber, J., Kulo, V., Lehmann, H., Hamosh, A. & Bodurtha, J., Jun 21 2018, (Accepted/In press) In : Genetics in Medicine. p. 1-5 5 p.

Research output: Contribution to journalArticle

Genetic Databases
Medical Education
Computational Biology
Medical Students
Clinical Competence

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