American Journal of Human Genetics, 0002-9297

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  1. Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

    C4RCD Res Grp, Barbosa, S., Greville-Heygate, S., Bonnet, M., Godwin, A., Fagotto-Kaufmann, C., Kajava, A., Laouteouet, D., Mawby, R., Wai, H. A., Dingemans, A. J. M., Hehir-Kwa, J., Willems, M., Capri, Y., Mehta, S. G., Cox, H., Goudie, D., Vansenne, F., Turnpenny, P., Vincent, M., Cogne, B., Lesca, G., Hertecant, J., Rodriguez, D., Keren, B., Burglen, L., Gerard, M., Putoux, A., Cantagrel, V., Siquier-Pernet, K., Rio, M., Banka, S., Sarkar, A., Steeves, M., Parker, M., Clement, E., Moutton, S., Mau-Them, F. T., Piton, A., de Vries, B. B. A., Guille, M., Debant, A., Schmidt, S. & Baralle, D., 5-Mar-2020, In : American Journal of Human Genetics. 106, 3, p. 338-355 18 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

    SYNAPS Study Grp & Ravenswaaij-Arts, van, C., 6-Aug-2020, In : American Journal of Human Genetics. 107, 2, p. 311-324 14 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. The Genetic Landscape and Epidemiology of Phenylketonuria

    Hillert, A., Anikster, Y., Belanger-Quintana, A., Burlina, A., Burton, B. K., Carducci, C., Chiesa, A. E., Christodoulou, J., Dordevic, M., Desviat, L. R., Eliyahu, A., Evers, R. A. F., Fajkusova, L., Feillet, F., Bonfim-Freitas, P. E., Gizewska, M., Gundorova, P., Karall, D., Kneller, K., Kutsev, S., Leuzzi, V., Levy, H. L., Lichter-Konecki, U., Muntau, A. C., Namour, F., Oltarzewski, M., Paras, A., Perez, B., Polak, E., Polyakov, A., Porta, F., Rohrbach, M., Scholl-Burgi, S., Specola, N., Stojiljkovic, M., Shen, N., Santana-da Silva, L. C., Skouma, A., van Spronsen, F., Stoppioni, V., Thony, B., Trefz, F. K., Vockley, J., Yu, Y., Zschocke, J., Hoffmann, G. F., Garbade, S. F. & Blau, N., 6-Aug-2020, In : American Journal of Human Genetics. 107, 2, p. 234-250 17 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

    Muir, A. M., Cohen, J. L., Sheppard, S. E., Guttipatti, P., Lo, T. Y., Weed, N., Doherty, D., DeMarzo, D., Fagerberg, C. R., Kjærsgaard, L., Larsen, M. J., Rump, P., Löhner, K., Hirsch, Y., Zeevi, D. A., Zackai, E. H., Bhoj, E., Song, Y. & Mefford, H. C., 7-May-2020, In : American Journal of Human Genetics. 106, 5, p. 623-631 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. 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., 5-Dec-2019, In : American Journal of Human Genetics. 105, 6, p. 1091-1101 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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