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Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome

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dc.contributor.authorLiu, Yanshan
dc.contributor.authorBanka, Siddharth
dc.contributor.authorHuang, Yingzhi
dc.contributor.authorHardman-Smart, Jonathan
dc.contributor.authorPye, Derek
dc.contributor.authorTorrelo, Antonio
dc.contributor.authorBeaman, Glenda M
dc.contributor.authorKazanietz, Marcelo G
dc.contributor.authorBaker, Martin J
dc.contributor.authorFerrazzano, Carlo
dc.contributor.authorShi, Chenfu
dc.contributor.authorOrozco, Gisela
dc.contributor.authorEyre, Stephen
dc.contributor.authorvan Geel, Michel
dc.contributor.authorBygum, Anette
dc.contributor.authorFischer, Judith
dc.contributor.authorMiedzybrodzka, Zosia
dc.contributor.authorAbuzahra, Faris
dc.contributor.authorRübben, Albert
dc.contributor.authorCuvertino, Sara
dc.contributor.authorEllingford, Jamie M
dc.contributor.authorSmith, Miriam J
dc.contributor.authorEvans, D Gareth
dc.contributor.authorWeppner-Parren, Lizelotte J M T
dc.contributor.authorvan Steensel, Maurice A M
dc.contributor.authorChaudhary, Iskander H
dc.contributor.authorMangham, D Chas
dc.contributor.authorLear, John T
dc.contributor.authorPaus, Ralf
dc.contributor.authorFrank, Jorge
dc.contributor.authorNewman, William G
dc.contributor.authorZhang, Xue
dc.contributor.institutionUniversity of Aberdeen.Centre for Health Data Scienceen
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.contributor.institutionUniversity of Aberdeen.Institute of Medical Sciencesen
dc.date.accessioned2023-09-11T23:15:44Z
dc.date.available2023-09-11T23:15:44Z
dc.date.embargoedUntil2023-09-12
dc.date.issued2022-12-04
dc.descriptionFunding sources X.Z. is supported by the National Natural Science Foundation of China (grant number 81788101), the CAMS Innovation Fund for Medical Sciences (grant numbers 2021-I2M-1-018 and 2016-I2M-1-002) and the National Key Research and Development Program of China (grant number 2016YFC0905100). M.J.S., D.G.E., R.P. and W.G.N. are supported by the Manchester NIHR Biomedical Research Centre (IS-BRC-1215-20007). Z.M. is supported by the NHS Grampian Biorepository (NHS Scotland). J.M.E. is funded by a postdoctoral research fellowship from the Health Education England Genomics Education Programme. G.O. and C.S. are funded by Wellcome Trust awards (207491/Z/17/Z for G.O., 215207/Z/19/Z for C.S.). G.O., C.S. and S.E. are supported by a Versus Arthritis award (21754) and NIHR Manchester BRC. S.E. is supported by a Medical Research Council award (MR/N00017X/1).en
dc.description.statusPeer revieweden
dc.format.extent15
dc.format.extent17542536
dc.identifier219409781
dc.identifier6951dfa1-ceb2-48fd-a288-25ec3cc0318e
dc.identifier35986704
dc.identifier000853164500001
dc.identifier85137902817
dc.identifier.citationLiu, Y, Banka, S, Huang, Y, Hardman-Smart, J, Pye, D, Torrelo, A, Beaman, G M, Kazanietz, M G, Baker, M J, Ferrazzano, C, Shi, C, Orozco, G, Eyre, S, van Geel, M, Bygum, A, Fischer, J, Miedzybrodzka, Z, Abuzahra, F, Rübben, A, Cuvertino, S, Ellingford, J M, Smith, M J, Evans, D G, Weppner-Parren, L J M T, van Steensel, M A M, Chaudhary, I H, Mangham, D C, Lear, J T, Paus, R, Frank, J, Newman, W G & Zhang, X 2022, 'Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome', British Journal of Dermatology, vol. 187, no. 6, pp. 948-961. https://doi.org/10.1111/bjd.21842en
dc.identifier.doi10.1111/bjd.21842
dc.identifier.iss6en
dc.identifier.issn0007-0963
dc.identifier.otherBibtex: https://doi.org/10.1111/bjd.21842
dc.identifier.otherORCID: /0000-0003-2890-8136/work/175113377
dc.identifier.urihttps://hdl.handle.net/2164/21645
dc.identifier.vol187en
dc.language.isoeng
dc.relation.ispartofBritish Journal of Dermatologyen
dc.subjectR Medicineen
dc.subjectNational Institute for Health Research (NIHR)en
dc.subjectIS-BRC-1215-20007en
dc.subjectWellcome Trusten
dc.subject207491/Z/17/Zen
dc.subject215207/Z/19/Zen
dc.subjectOtheren
dc.subjectMR/N00017X/1en
dc.subjectMedical Research Council (MRC)en
dc.subjectMR/N00017X/1en
dc.subjectSupplementary Informationen
dc.subject.lccRen
dc.titleGermline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndromeen
dc.typeJournal articleen

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