Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Deciphering Developmental Disorders Study, 7 Apr 2022, In: American journal of human genetics. 109, 4, p. 750-758 9 p.

Research output: Contribution to journal › Article* › Academic › peer-review

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome

Steele, J. L., Morrow, M. M., Sarnat, H. B., Alkhunaizi, E., Brandt, T., Chitayat, D. A., DeFilippo, C. P., Douglas, G. V., Dubbs, H. A., Elloumi, H. Z., Glassford, M. R., Hannibal, M. C., Héron, B. N., Kim, L. E., Marco, E. J., Mignot, C., Monaghan, K. G., Myers, K. A., Parikh, S., Quinonez, S. C. & 7 others, Rajabi, F., Shankar, S. P., Shinawi, M. S., van de Kamp, J. J. P., Veerapandiyan, A., Waldman, A. T. & Graf, W. D., 1 Jan 2022, In: Pediatric Neurology. 126, p. 65-73 9 p.

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Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing

Chen, T., Rohacek, A. M., Caporizzo, M., Nankali, A., Smits, J. J., Oostrik, J., Lanting, C. P., Kücük, E., Gilissen, C., van de Kamp, J. M., Pennings, R. J. E., Rakowiecki, S. M., Kaestner, K. H., Ohlemiller, K. K., Oghalai, J. S., Kremer, H., Prosser, B. L. & Epstein, D. J., 17 May 2021, In: Developmental cell. 56, 10, p. 1526-1540.e7

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Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

Bassani, S., van Beelen, E., Rossel, M., Voisin, N., Morgan, A., Arribat, Y., Chatron, N., Chrast, J., Cocca, M., Delprat, B., Faletra, F., Giannuzzi, G., Guex, N., Machavoine, R., Pradervand, S., Smits, J. J., van de Kamp, J. M., Ziegler, A., Amati, F., Marlin, S. & 6 others, Kremer, H., Locher, H., Maurice, T., Gasparini, P., Girotto, G. & Reymond, A., 15 Sep 2021, In: Human Molecular Genetics. 30, 19, p. 1785-1796 12 p.

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Drivas, T. G., Li, D., Nair, D., Alaimo, J. T., Alders, M., Altmüller, J., Barakat, T. S., Bebin, E. M., Bertsch, N. L., Blackburn, P. R., Blesson, A., Bouman, A. M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G. M., Denecke, J., Dieux-Coëslier, A., Dubbs, H., Ferrer, A. & 45 others, Gal, D., Bartik, L. E., Gunderson, L. B., Hasadsri, L., Jain, M., Karimov, C., Keena, B., Klee, E. W., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, J. L., Milunsky, J. M., Napier, M. P., Ortiz-Gonzalez, X. R., Pichurin, P. N., Pinner, J., Powis, Z., Prasad, C., Radio, F. C., Rasmussen, K. J., Renaud, D. L., Rush, E. T., Saunders, C., Selcen, D., Seman, A. R., Shinde, D. N., Smith, E. D., Smol, T., Snijders Blok, L., Stoler, J. M., Tang, S., Tartaglia, M., Thompson, M. L., van de Kamp, J. M., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H., Zackai, E. H., Zampino, G., Campeau, P. & Bhoj, E., 1 Oct 2020, In: European journal of human genetics. 28, 10, p. 1422-1431 10 p.

Research output: Contribution to journal › Article* › Academic › peer-review