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Buscarini, Elisabetta, Botella, Luisa Maria, Geisthoff, Urban, Kjeldsen, Anette D, Mager, Hans Jurgen, Pagella, Fabio, Suppressa, Patrizia, Zarrabeitia, Roberto, Dupuis-Girod, Sophie, Shovlin, Claire L
Published in Orphanet journal of rare diseases (04.02.2019)
Published in Orphanet journal of rare diseases (04.02.2019)
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Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia
Shovlin, Claire L., Simeoni, Ilenia, Downes, Kate, Frazer, Zoe C., Megy, Karyn, Bernabeu-Herrero, Maria E., Shurr, Abigail, Brimley, Jennifer, Patel, Dilipkumar, Kell, Loren, Stephens, Jonathan, Turbin, Isobel G., Aldred, Micheala A., Penkett, Christopher J., Ouwehand, Willem H., Jovine, Luca, Turro, Ernest
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Published in Blood (22.10.2020)
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S95 Transcriptional signatures of blood outgrowth endothelial cells from patients with pulmonary arteriovenous malformations and hereditary haemorrhagic telangiectasia
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Published in Thorax (08.11.2021)
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Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT
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Published in Blood (30.05.2024)
Published in Blood (30.05.2024)
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P112 Addressing the problem of variants of uncertain significance in genetic diagnosis of vascular pulmonary disease: a role for transcript expression in blood monocytes?
Shurr, AYL, Maurer, C, Turbin, IG, Bernabeu-Herrero, M, Aldred, M, Patel, D, Shovlin, CL
Published in Thorax (01.12.2019)
Published in Thorax (01.12.2019)
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S95 Identifying new hereditary haemorrhagic telangiectasia genes by applying a machine learning approach to screen whole genome sequencing data
Xiao, S, Brown, D, Mollet, IG, Govani, FS, Patel, D, Game, L, Shovlin, CL
Published in Thorax (01.12.2019)
Published in Thorax (01.12.2019)
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Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1
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Published in Human mutation (18.05.2024)
Published in Human mutation (18.05.2024)
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S94 Identification of natural targets of nonsense-mediated decay relevant to pulmonary vascular diseases
Bielowka, AM, Bernabeu-Herrero, M, Patel, D, Govani, FS, Dibb, NJ, Game, L, Aldred, M, Mollet, IG, Shovlin, CL
Published in Thorax (01.12.2019)
Published in Thorax (01.12.2019)
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