19992020

Research output per year

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Research Output

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Johnson, B. V., Kumar, R., Oishi, S., Alexander, S., Kasherman, M., Vega, M. S., Ivancevic, A., Gardner, A., Domingo, D., Corbett, M., Parnell, E., Yoon, S., Oh, T., Lines, M., Lefroy, H., Kini, U., van Allen, M., Grønborg, S., Mercier, S., Küry, S. B. & 42 others, Bézieau, S., Pasquier, L., Raynaud, M., Afenjar, A., Billette de Villemeur, T., Keren, B., Désir, J., van Maldergem, L., Marangoni, M., Dikow, N., Koolen, D. A., VanHasselt, P. M., Weiss, M., Zwijnenburg, P., Sa, J., Reis, C. F., López-Otín, C., Santiago-Fernández, O., Fernández-Jaén, A., Rauch, A., Steindl, K., Joset, P., Goldstein, A., Madan-Khetarpal, S., Infante, E., Zackai, E., Mcdougall, C., Narayanan, V., Ramsey, K., Undiagnosed Diseases Network, Davids, M., Sullivan, J. A., Au, M., Pérez-Jurado, L. A., Kleefstra, T., Penzes, P., Wood, S. A., Burne, T., Pierson, T., Piper, M., Gecz, J. & Jolly, L. A., 15 Jan 2020, In : Biological Psychiatry. 87, 2, p. 100-112

Research output: Contribution to journalArticleAcademicpeer-review

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Ragge, N., Isidor, B., Bitoun, P., Odent, S., Giurgea, I., Cogné, B., Deb, W., Vincent, M., Le Gall, J., Morton, J., Lim, D., Le Meur, G., Zazo Seco, C., Zafeiropoulou, D., Bax, D., Zwijnenburg, P., Arteche, A., Swafiri, S. T., Cleaver, R., McEntagart, M. & 9 others, Kini, U., Newman, W., Ayuso, C., Corton, M., Herenger, Y., Jeanne, M., Calvas, P., Chassaing, N. & DDD Study, 11 Sep 2019, In : Human Genetics. 138, 8-9, p. 1051-1069

Research output: Contribution to journalArticleAcademicpeer-review

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

Stolerman, E. S., Francisco, E., Stallworth, J. L., Jones, J. R., Monaghan, K. G., Keller-Ramey, J., Person, R., Wentzensen, I. M., McWalter, K., Keren, B., Heron, B., Nava, C., Heron, D., Kim, K., Burton, B., Al-Musafri, F., O'Grady, L., Sahai, I., Escobar, L. F., Meuwissen, M. & 11 others, Reyniers, E., Kooy, F., Lacassie, Y., Gunay-Aygun, M., Schatz, K. S., Hochstenbach, R., Zwijnenburg, P. J. G., Waisfisz, Q., van Slegtenhorst, M., Mancini, G. M. S. & Louie, R. J., 1 Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1276-1286

Research output: Contribution to journalArticleAcademicpeer-review

Research priorities for the future health of multiples and their families: The Global Twins and Multiples Priority Setting Partnership

Lam, J. R., Liu, B., Bhate, R., Fenwick, N., Reed, K., Duffy, J. M. N., Khalil, A., Bartley, H., Baschat, A., Bennasar Sans, M., Bhate, R., Bolch, C., Craig, J., Denton, J., Duffy, J. M. N., Ernst-Milner, S., Fenwick, N., Gevers, M., Griffith, S., Harris, J. & 28 others, Harvey, M., Hayward, H., Hecher, K., Heinonen, K., Johnson, A., Kesek, J., Khalil, A., Kilby, M., Lam, J. R., Lewi, L., Lister, C., Liu, B., Lopriore, E., Rankin, M., Reed, K., Shetty, S., Stammler-Safar, M., Tenberge, A., Twitchen, S., Twitchen, M., Umstad, M., Valensise, H., van Klink, J., Vollmer, B., Windsor, S., Wood, K., Zwijnenburg, P. & on behalf of the Global Twins and Multiples Priority Setting Partnership Collaborators, 1 Dec 2019, In : Ultrasound in Obstetrics and Gynecology. 54, 6, p. 715-721 7 p.

Research output: Contribution to journalArticleAcademicpeer-review