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Mrs Beverley Anderson - publications

List of publications

2016

  • Bursztejn, A-C., Briggs, T., Del Toro Duany, Y., Anderson, B., O'Sullivan, J., Williams, S., ... Crow, Y. (2016). Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.The British journal of dermatology, 173(6), 1505–1513 . DOI: 10.1111/bjd.14073. Publication link: 5b4e040c-3036-47c7-ad6a-b6f8f5d6cee9 | PubMed:26284909
  • Ruane, P., Gumy, L. F., Bola, B., Anderson, B., Wozniak, M., Hoogenraad, C. C., & Allan, V. (2016). Tumour Suppressor Adenomatous Polyposis Coli (APC) localisation is regulated by both Kinesin-1 and Kinesin-2. Scientific Reports, 6, [27456]. DOI: 10.1038/srep27456. Publication link: 52f69113-1767-4bdb-8ea0-bbec1e55f2f3

2015

  • Gillespie, R., Urquhart, J., Anderson, B., Williams, S., Waller, S., Ashworth, J., ... Black, G. (2015). Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.Ophthalmology, 123(1), 217–220. DOI: 10.1016/j.ophtha.2015.06.035. Publication link: 811d4f06-1b15-4421-bbd2-553344b7b457 | PubMed:26233629
  • Crow, Y. J., Chase, D. S., Lowenstein Schmidt, J., Szynkiewicz, M., Forte, G. M. A., Gornall, H. L., ... D Arrigo, S. (2015). Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.American journal of medical genetics. Part A, 167A(2). DOI: 10.1002/ajmg.a.36887. Publication link: 67d45d18-56b9-4896-bfce-d4fdb8ba0357 | PubMed:25604658
  • Smith, M., Isidor, B., Beetz, C., Williams, S., Bhaskar, S. S., Richer, W., ... Evans, G. (2015). Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology, 84(2), 141-147. DOI: 10.1212/WNL.0000000000001129. Publication link: a284d8f5-b965-4138-938c-b0ab83e8bb7b | PubMed:25480913

2014

  • Wieczorek, D., Newman, W., Wieland, T., Berulava, T., Kaffe, M., Falkenstein, D., ... Strom, T. M. (2014). Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome.American Journal of Human Genetics, 95(6). DOI: 10.1016/j.ajhg.2014.10.014. Publication link: 69bb9b6b-e261-4ce8-9143-f0e1aa0f4201 | PubMed:25434003
  • Smith, M., Beetz, C., Williams, S., Bhaskar, S., O'Sullivan, J., Anderson, B., ... Evans, G. (2014). Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations. Journal of Clinical Oncology, 32(36), 4155-4161. DOI: 10.1200/JCO.2014.58.2569. Publication link: 83b86198-f42c-4947-b284-cc3570e61280 | PubMed:25403219
  • Gannon, T., Perveen, R., Schlecht, H., Ramsden, S., Anderson, B., Kerr, B., ... Clayton-Smith, J. (2014). Further delineation of the KAT6B molecular and phenotypic spectrum.European journal of human genetics : EJHG. DOI: 10.1038/ejhg.2014.248. Publication link: 952c60fa-154e-4bcb-a5d7-bb18114d7ccb | PubMed:25424711
  • Rice, G., del Toro Duany, Y., Jenkinson, E., Forte, G., Anderson, B., Ariaudo, G., ... Crow, Y. (2014). Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.Nature Genetics, 46(5), 503-509. DOI: 10.1038/ng.2933. Publication link: 0ed76258-d9f5-4ceb-8cbe-8fbff624e0cd | PubMed:24686847
  • Daly, S., Shah, H., O'Sullivan, J., Anderson, B., Bhaskar, S., Williams, S., ... Girisha, K. M. (2014). Exome sequencing identifies a dominant tnnt3 mutation in a large family with distal arthrogryposis. Molecular Syndromology, 5(5), 218-228. DOI: 10.1159/000365057. Publication link: 3115150c-4f5c-4b09-a9b2-0bfe83f27c62 | PubMed:25337069

2013

  • Crow, Y., Rice, G. I., Reijns, M. A. M., Coffin, S. R., Forte, G. M. A., Anderson, B., ... Crow, Y. J. (2013). Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in aicardi-Goutières syndrome. Human Mutation, 34(8), 1066-1070. DOI: 10.1002/humu.22336. Publication link: 5729d202-62c1-46be-b9d0-7759e4f9a10c | PubMed:23592335

2012

  • Anderson, B., Kasher, P. R., Mayer, J., Szynkiewicz, M., Jenkinson, E. M., Bhaskar, S. S., ... Lourenço, C. M. (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature Genetics, 44(3), 338-342. DOI: 10.1038/ng.1084. Publication link: 5e16d5b5-1fcc-4e1a-b396-4892f7d787a1 | PubMed:22267198
  • Mitchell, K., O'Sullivan, J., Missero, C., Blair, E., Richardson, R., Anderson, B., ... Dixon, M. J. (2012). Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. American Journal of Human Genetics, 90(1), 69-75. DOI: 10.1016/j.ajhg.2011.11.013. Publication link: c6dfb59f-cab1-49ab-847c-1eca7044146f | PubMed:22197488

2011

  • Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., ... Black, G. (2011). Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the say-barber-biesecker variant of Ohdo syndrome. American Journal of Human Genetics, 89(5), 675-681. DOI: 10.1016/j.ajhg.2011.10.008. Publication link: 75c9d6d1-a1c8-479d-a784-3350044f676f | PubMed:22077973