Miss Renee Carroll

Research Officer

Adelaide Medical School

Faculty of Health and Medical Sciences

My Research
Publications
Contact

I am a research officer with the Neurogenetics Research Program, investigating the genetic origins of neurodevelopmental disorders such as intellectual disability and epilepsy. I am involved in validating genetic variants identified by Next Generation Sequencing and performing various functional assays using DNA, RNA, protein and patient derived cell lines to determine likely pathogenicity. I have extensive cell culture experience working predominantly with patient lymphoblastoid and fibroblast cell lines.

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Journals

Year	Citation
2021	Whalen, S., Shaw, M., Mignot, C., Héron, D., Bastaraud, S. C., Walti, C. C., . . . Villard, L. (2021). Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. European Journal of Human Genetics, 13 pages. DOI
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., . . . Eichler, E. E. (2020). Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature Communications, 11(1), 4932-1-4932-13. DOI Scopus4 WoS3 Europe PMC1
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 WoS10 Europe PMC6
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 Scopus20 WoS20 Europe PMC10
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 WoS5 Europe PMC4
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 WoS4 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 Scopus6 WoS7 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 Scopus9 WoS9 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 Scopus17 WoS12 Europe PMC11
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 Scopus32 WoS29 Europe PMC12
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 Scopus28 WoS28 Europe PMC20

Position: Research Officer
Phone: 83137970
Email: renee.carroll@adelaide.edu.au
Campus: North Terrace
Building: Adelaide Health and Medical Sciences, floor 8
Room: WS8062.38
Org Unit: Women's and Children's Health

Miss Renee Carroll

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