Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Profiles

Photo of Jozef Gecz

Jozef Gecz

19882019
Photo of Luis Perez-Jurado

Luis Perez-Jurado

19892019

Research Output 1994 2019

Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy (npj Genomic Medicine, (2018), 3, 1, (33), 10.1038/s41525-018-0073-4)

Corbett, M. A., van Eyk, C. L., Webber, D. L., Bent, S. J., Newman, M., Harper, K., Berry, J. G., Azmanov, D. N., Woodward, K. J., Gardner, A. E., Slee, J., Perez-Jurado, L., MacLennan, A. H. & Gecz, J., 1 Dec 2019, In : npj Genomic Medicine. 4, 1, 11.

Research output: Contribution to journalComment/debate

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

Mattioli, F., Isidor, B., Abdul-Rahman, O., Gunter, A., Huang, L., Kumar, R., Beaulieu, C., Gecz, J., Innes, M., Mandel, J. L. & Piton, A., 1 Jan 2019, In : Human molecular genetics. 28, 6, p. 952-960 9 p.

Research output: Contribution to journalArticle

Correction to: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay (Genetics in Medicine, (2018), 10.1038/s41436-018-0290-3)

Mucha, B. E., Banka, S., Ajeawung, N. F., Molidperee, S., Chen, G. G., Koenig, M. K., Adejumo, R. B., Till, M., Harbord, M., Perrier, R., Lemyre, E., Boucher, R. M., Skotko, B. G., Waxler, J. L., Thomas, M. A., Hodge, J. C., Gecz, J., Nicholl, J., McGregor, L., Linden, T. & 5 othersSisodiya, S. M., Sanlaville, D., Cheung, S. W., Ernst, C. & Campeau, P. M., 1 Jan 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle