American Journal of Human Genetics, 0002-9297

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  1. TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

    Dutch NIPT Consortium, van der Meij, K. R. M., Sistermans, E. A., Macville, M. V. E., Stevens, S. J. C., Bax, C. J., Bekker, M. N., Bilardo, C. M., Boon, E. M. J., Boter, M., Diderich, K. E. M., de Die-Smulders, C. E. M., Duin, L. K., Faas, B. H. W., Feenstra, I., Haak, M. C., Hoffer, M. J. V., den Hollander, N. S., Hollink, I. H. I. M., Jehee, F. S., Knapen, M. F. C. M., Kooper, A. J. A., van Langen, I. M., Lichtenbelt, K. D., Linskens, I. H., van Maarle, M. C., Oepkes, D., Pieters, M. J., Schuring-Blom, G. H., Sikkel, E., Sikkema-Raddatz, B., Smeets, D. F. C. M., Srebniak, M. I., Suijkerbuijk, R. F., Tan-Sindhunata, G. M., van der Ven, A. J. E. M., van Zelderen-Bhola, S. L., Henneman, L., Galjaard, R-J. H., Van Opstal, D. & Weiss, M. M., 2019, In : American Journal of Human Genetics. 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

    Haijes, H. A., Koster, M. J. E., Rehmann, H., Li, D., Hakonarson, H., Cappuccio, G., Hancarova, M., Lehalle, D., Reardon, W., Schaefer, G. B., Lehman, A., van de Laar, I. M. B. H., Tesselaar, C. D., Turner, C., Goldenberg, A., Patrier, S., Thevenon, J., Pinelli, M., Brunetti-Pierri, N., Prchalova, D., Havlovicova, M., Vlckova, M., Sedlacek, Z., Lopez, E., Ragoussis, V., Pagnamenta, A. T., Kini, U., Vos, H. R., van Es, R. M., van Schaik, R. F. M. A., van Essen, T. A. J., Kibaek, M., Taylor, J. C., Sullivan, J., Shashi, V., Petrovski, S., Fagerberg, C., Martin, D. M., van Gassen, K. L., Pfundt, R., Falk, M. J., McCormick, E. M., Timmers, H. T. M. & van Hasselt, P. M., 1-Aug-2019, In : American Journal of Human Genetics. 105, 2, p. 283-301 19 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

    Balak, C., Benard, M., Schaefer, E., Iqbal, S., Ramsey, K., Ernoult-Lange, M., Mattioli, F., Llaci, L., Geoffroy, V., Courel, M., Naymik, M., Bachman, K. K., Pfundt, R., Rump, P., ter Beest, J., Wentzensen, I. M., Monaghan, K. G., McWalter, K., Richholt, R., Le Bechec, A., Jepsen, W., De Both, M., Belnap, N., Boland, A., Piras, I. S., Deleuze, J-F., Szelinger, S., Dollfus, H., Chelly, J., Muller, J., Campbell, A., Lal, D., Rangasamy, S., Mandel, J-L., Narayanan, V., Huentelman, M., Weil, D. & Piton, A., 5-Sep-2019, In : American Journal of Human Genetics. 105, 3, p. 509-525 17 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

    Bell, S., Rousseau, J., Peng, H., Aouabed, Z., Priam, P., Theroux, J-F., Jefri, M., Tanti, A., Wu, H., Kolobova, I., Silviera, H., Manzano-Vargas, K., Ehresmann, S., Hamdan, F. F., Hettige, N., Zhang, X., Antonyan, L., Nassif, C., Ghaloul-Gonzalez, L., Sebastian, J., Vockley, J., Begtrup, A. G., Wentzensen, I. M., Crunk, A., Nicholls, R. D., Herman, K. C., Deignan, J. L., Al-Hertani, W., Efthymiou, S., Salpietro, V., Miyake, N., Makita, Y., Matsumoto, N., Ostern, R., Houge, G., Hafstrom, M., Fassi, E., Houlden, H., Wassink-Ruiter, J. S. K., Nelson, D., Goldstein, A., Dabir, T., van Gils, J., Bourgeron, T., Delorme, R., Cooper, G. M., Martinez, J. E., Finnila, C. R., Carmant, L. & Lortie, A., 2-May-2019, In : American Journal of Human Genetics. 104, 5, p. 815-834 20 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome

    Vargas-Poussou, R., Feldmann, D., Vollmer, M., Konrad, M., Kelly, L., van den Heuvel, L. P., Tebourbi, L., Brandis, M., Karolyi, L., Hebert, S. C., Lemmink, H. H., Deschênes, G., Hildebrandt, F., Seyberth, H. W., Guay-Woodford, L. M., Knoers, N. V. & Antignac, C., Jun-1998, In : American Journal of Human Genetics. 62, 6, p. 1332-1340 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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