1990 …2019

Research output per year

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Research Output

Enabling global clinical collaborations on identifiable patient data: The Minerva initiative

Nellåker, C., Alkuraya, F. S., Baynam, G., Bernier, R., Bernier, F. P., Boulanger, V., Brudno, M., Brunner, H. G., Clayton-Smith, J., Cogné, B., Dawkins, H. J., DeVries, B., Douzgou, S., Dudding, T., Eichler, E. E., Ferlaino, M., Fieggen, K., Firth, H. V., FitzPatrick, D. R., Gration, D. & 32 others, Groza, T., Haendel, M. A., Hallowell, N., Hamosh, A., Hehir-Kwa, J., Hitz, M. P., Hughes, M., Kini, U., Kleefstra, T., Kooy, R. F., Krawitz, P. M., Küry, S., Lees, M., Lyon, G. J., Lyonnet, S., Marcadier, J., Meyn, S., Moslerová, V., Politei, J. M., Poulton, C. C., Raymond, F. L., Reijnders, M., Robinson, P. N., Romano, C., Rose, C. M., Sainsbury, D. C., Schofield, L., Sutton, V. R., Turnovec, M., Van Dijck, A., Van Esch, H. & Wilkie, A. O., Jan 1 2019, In : Frontiers in Genetics. 10, JUN, 611.

Research output: Contribution to journalComment/debate

Open Access

Insights into genetics, human biology and disease gleaned from family based genomic studies

Centers for Mendelian Genomics, Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

  • OMIM.org: leveraging knowledge across phenotype-gene relationships

    Amberger, J. S., Bocchini, C. A., Scott, A. F. & Hamosh, A., Jan 8 2019, In : Nucleic Acids Research. 47, D1, p. D1038-D1043

    Research output: Contribution to journalArticle

  • Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

    Fichtman, B., Harel, T., Biran, N., Zagairy, F., Applegate, C. D., Salzberg, Y., Gilboa, T., Salah, S., Shaag, A., Simanovsky, N., Ayoubieh, H., Sobreira, N., Punzi, G., Pierri, C. L., Hamosh, A., Elpeleg, O., Harel, A. & Edvardson, S., Jul 3 2019, In : American journal of human genetics. 105, 1, p. 48-64 17 p.

    Research output: Contribution to journalArticle

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

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

    Research output: Contribution to journalArticle