Human Molecular Genetics, 0964-6906

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  1. Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles

    Degenhardt, F., Wendorff, M., Wittig, M., Ellinghaus, E., Datta, L. W., Schembri, J., Ng, S. C., Rosati, E., Huebenthal, M., Ellinghaus, D., Jung, E. S., Lieb, W., Abedian, S., Malekzadeh, R., Cheon, J. H., Ellul, P., Sood, A., Midha, V., Thelma, B. K., Wong, S. H., Schreiber, S., Yamazaki, K., Kubo, M., Boucher, G., Rioux, J. D., Lenz, T. L., Brant, S. R. & Franke, A., 15-Jun-2019, In : Human Molecular Genetics. 28, 12, p. 2078-2092 15 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

    Cremers, F. P., van de Pol, D. J., van Driel, M., den Hollander, A. I., van Haren, F. J., Knoers, N. V., Tijmes, N., Bergen, A. A., Rohrschneider, K., Blankenagel, A., Pinckers, A. J., Deutman, A. F. & Hoyng, C. B., 1998, In : Human Molecular Genetics. 7, 3, p. 355-62 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Characterization of a recurrent 15q24 microdeletion syndrome

    Sharp, A. J., Selzer, R. R., Veltman, J. A., Gimelli, S., Gimelli, G., Striano, P., Coppola, A., Regan, R., Price, S. M., Knoers, N. V., Eis, P. S., Brunner, H. G., Hennekam, R. C., Knight, S. J. L., de Vries, B. B. A., Zuffardi, O. & Eichler, E. E., 2007, In : Human Molecular Genetics. 16, 5, p. 567-72 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Occupational exposure to gases/fumes and mineral dust affect DNA methylation levels of genes regulating expression

    BIOS Consortium, 2-Apr-2019, In : Human Molecular Genetics. 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

    Lifelines Cohort Study, 10-Apr-2019, In : Human Molecular Genetics. 19 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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