| 2020 |
Kumar, R., Palmer, E., Gardner, A. E., Carroll, R., Banka, S., Abdelhadi, O., . . . Gecz, J. (2020). Expanding clinical presentations due to variations in THOC2 mRNA nuclear export factor. Front Mol Neurosci, 13, 15 pages.
DOI Scopus1 WoS1 Europe PMC1 |
| 2020 |
Carroll, R., Shaw, M., Arvio, M., Gardner, A., Kumar, R., Hodgson, B., . . . Gecz, J. (2020). Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion. European Journal of Medical Genetics, 63(10), 1-6.
DOI |
| 2020 |
Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., . . . Thomas, T. R. (2020). Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature Communications, 11(1), 13 pages.
DOI WoS1 |
| 2020 |
Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., . . . Eichler, E. E. (2020). Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.. Nat Commun, 11(1), 5398.
DOI |
| 2020 |
Palmer, E. E., Carroll, R., Shaw, M., Kumar, R., Minoche, A. E., Leffler, M., . . . Gecz, J. (2020). RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features. American Journal of Human Genetics, 107(6), 1157-1169.
DOI |
| 2019 |
Johnson, J. L., Stoica, L., Liu, Y., Zhu, P. J., Bhattacharya, A., Buffington, S., . . . Costa-Mattioli, M. (2019). Inhibition of Upf2-dependent nonsense-mediated decay leads to behavioral and neurophysiological abnormalities by activating the immune response. Neuron, 104(4), 665-679.e8.
DOI Scopus9 WoS8 Europe PMC5 |
| 2019 |
Corbett, M. A., Kroes, T., Veneziano, L., Bennett, M. F., Florian, R., Schneider, A. L., . . . Gecz, J. (2019). Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nature Communications, 10(1), 4920.
DOI Scopus17 WoS13 Europe PMC6 |
| 2018 |
Frints, S., Ozanturk, A., Rodríguez Criado, G., Grasshoff, U., de Hoon, B., Field, M., . . . Kalscheuer, V. (2018). Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry, 24(11), 1748-1768.
DOI Scopus5 WoS2 |
| 2018 |
Jolly, L., Sun, Y., Carroll, R., Homan, C., & Gecz, J. (2018). Robust imaging and gene delivery to study human lymphoblastoid cell lines. Journal of Human Genetics, 63(9), 945-955.
DOI Scopus1 WoS1 |
| 2017 |
Carroll, R., Kumar, R., Shaw, M., Slee, J., Kalscheuer, V., Corbett, M., & Gecz, J. (2017). Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. European Journal of Human Genetics, 25(9), 1078-1082.
DOI Scopus4 WoS3 Europe PMC1 |
| 2017 |
Corbett, M., Turner, S., Gardner, A., Silver, J., Stankovich, J., Leventer, R., . . . Gecz, J. (2017). Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. European Journal of Medical Genetics, 60(8), 437-443.
DOI Scopus5 WoS5 Europe PMC2 |
| 2017 |
Palmer, E. E., Kumar, R., Gordon, C. T., Shaw, M., Hubert, L., Carroll, R., . . . Gecz, J. (2017). A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations. American Journal of Human Genetics, 101(6), 995-1005.
DOI Scopus7 WoS6 Europe PMC5 |
| 2016 |
Palmer, E., Leffler, M., Rogers, C., Shaw, M., Carroll, R., Earl, J., . . . Field, M. (2016). New insights into Brunner syndrome and potential for targeted therapy. Clinical Genetics, 89(1), 120-127.
DOI Scopus15 WoS9 Europe PMC8 |
| 2016 |
Corbett, M., Bellows, S., Li, M., Carroll, R., Micallef, S., Carvill, G., . . . Gecz, J. (2016). Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. Neurology, 87(19), 1975-1984.
DOI Scopus29 WoS25 Europe PMC9 |
| 2015 |
Brookes, E., Laurent, B., Õunap, K., Carroll, R., Moeschler, J., Field, M., . . . Shi, Y. (2015). Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. Human Molecular Genetics, 24(10), 2861-2872.
DOI Scopus25 WoS25 Europe PMC18 |
