A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families

Demain, L. A. M., Gerkes, E. H., Smith, R. J. H., Molina-Ramirez, L. P., O'Keefe, R. T. & Newman, W. G., Mar-2020, In: Journal of human genetics. 65, 3, p. 305-311 7 p.

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

Germline AGO2 mutations impair RNA interference and human neurological development

Lessel, D., Zeitler, D. M., Reijnders, M. R. F., Kazantsev, A., Hassani Nia, F., Bartholomäus, A., Martens, V., Bruckmann, A., Graus, V., McConkie-Rosell, A., McDonald, M., Lozic, B., Tan, E-S., Gerkes, E., Johannsen, J., Denecke, J., Telegrafi, A., Zonneveld-Huijssoon, E., Lemmink, H. H., Cham, B. W. M. & 47 others, Kovacevic, T., Ramsdell, L., Foss, K., Le Duc, D., Mitter, D., Syrbe, S., Merkenschlager, A., Sinnema, M., Panis, B., Lazier, J., Osmond, M., Hartley, T., Mortreux, J., Busa, T., Missirian, C., Prasun, P., Lüttgen, S., Mannucci, I., Lessel, I., Schob, C., Kindler, S., Pappas, J., Rabin, R., Willemsen, M., Gardeitchik, T., Löhner, K., Rump, P., Dias, K-R., Evans, C-A., Andrews, P. I., Roscioli, T., Brunner, H. G., Chijiwa, C., Lewis, M. E. S., Jamra, R. A., Dyment, D. A., Boycott, K. M., Stegmann, A. P. A., Kubisch, C., Tan, E-C., Mirzaa, G. M., McWalter, K., Kleefstra, T., Pfundt, R., Ignatova, Z., Meister, G. & Kreienkamp, H-J., 16-Nov-2020, In: Nature Communications. 11, 1, 14 p., 5797.

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

Phenotype-genotype analysis in a large cohort of 250 individuals with a chromosome 6q deletion

Engwerda, A., Meijer, S. E., Bouman, P., de Souza, N. F. S., Frentz, B., Flapper, B. C. T., Corsten-Janssen, N., Gerkes, E. H., Swertz, M. A., Plantinga, M., Dijkhuizen, T., Kerstjens-Frederikse, W. S. & van Ravenswaaij-Arts, C. M. A., Dec-2020, In: European Journal of Human Genetics. 28, SUPPL 1, p. 456-457 2 p.

Research output: Contribution to journal › Meeting Abstract › Academic

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Deciphering Developmental Disorder Study, Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P. R., Haseeb, A., McWalter, K., Ichikawa, S., Nava, C., Keren, B., Charles, P., Marey, I., Tabet, A-C., Levy, J., Perrin, L., Hartmann, A., Lesca, G., Schluth-Bolard, C., Monin, P., Dupuis-Girod, S. & 32 others, Guillen Sacoto, M. J., Schnur, R. E., Zhu, Z., Poisson, A., El Chehadeh, S., Alembik, Y., Bruel, A-L., Lehalle, D., Nambot, S., Moutton, S., Odent, S., Jaillard, S., Dubourg, C., Hilhorst-Hofstee, Y., Barbaro-Dieber, T., Ortega, L., Bhoj, E. J., Masser-Frye, D., Bird, L. M., Lindstrom, K., Ramsey, K. M., Narayanan, V., Fassi, E., Willing, M., Cole, T., Salter, C. G., Akilapa, R., Vandersteen, A., Canham, N., Rump, P., Gerkes, E. H. & Delpienne, C., Mar-2020, In: Genetics in Medicine. 22, 3, p. 524-537 14 p.

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

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

Barnicoat, A., Low, K., Gerkes, E. H., Fry, A. E., Parker, M. J., O'Driscoll, M., Charles, P., Cox, H., Marey, I., Keren, B., Rinne, T., McEntagart, M., Ramachandran, V., Drury, S., Vansenne, F., Sival, D. A., Herkert, J. C., Callewaert, B., Tan, W-H. & Balasubramanian, M., May-2020, In: Human Mutation. 41, 5, p. 1042-1050 9 p.

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