DrClaire Shovlin
Professor of Practice (Clinical and Molecular Medicine)
National Heart & Lung Institute - Faculty of Medicine
Orcid identifier0000-0001-9007-5775 (opens in a new tab)
- Professor of Practice (Clinical and Molecular Medicine)National Heart & Lung Institute - Faculty of Medicine
- Imperial College London, National Heart and Lung Institute, Imperial Centre for Translational and Experimental Medicine, Hammersmith Campus, Du Cane Rd, London, W12 0NN, United Kingdom
RESEARCH
While this tab is under development, please see the selection of recent publications referred to on the previous page:
Hermann R, Shovlin CL, Kasthuri RS, Serra M, Eker O, Bailly S, Buscarini E, Dupuis Girod S, 2025. Hereditary haemorrhagic telangiectasia. Nat Rev Dis Primers 2025 Jan 9: https://rdcu.be/d5IFX.
Shovlin & Aldred, 2025: When “loss-of-function” means proteostasis burden: Thinking again about coding DNA variants. Am J Hum Genet 2025 Jan 2: https://authors.elsevier.com/a/1kN7fgeXA9XO.
Li....& Shovlin, 2024: Endogenous plasma resuspension of peripheral blood mononuclear cells prevents preparative-associated stress that modifies polyA-enriched RNA responses to subsequent acute stressors. Li D, Al-Dahleh K, Murphy DA, Georgieva S, Matthews N, Shovlin CL. Cell Stress. 2024 Nov 28;11:112-124:
Bielowka ....& Shovlin 2024: Acute endothelial stresses identify microRNA let-7b-5p and non-coding SLC11A2 (NRAMP2/DMT1) exon as biomarkers that overlap with those detected in malignant and non-malignant diseases. QJM. 2024 Dec 10:hcae235. doi: 10.1093/qjmed/hcae235. Online ahead of print.
Bernabeu-Herrero....& Shovlin, 2024: Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT. Bernabéu-Herrero ME, Patel D, Bielowka A, Zhu J, Jain K, Mackay IS, Chaves Guererro P, Emanuelli G, Jovine L, Noseda M, Marciniak SJ, Aldred MA, Shovlin CL. Blood. 2024 May 30;143(22):2314-2331.
Shovlin et al 2024: MEK 1 inhibition and bleeding in hereditary haemorrhagic telangiectasia. Shovlin CL, Patel D, Bielowka A, Ledermann JA, Modarresi A; Genomics England Research Consortium; Bernabeu-Herrero ME, Aldred MA, Alsafi A. Br J Haematol. 2024 Jan;204(1):361-365.
Jain....& Shovlin, 2023: Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction. Jain K, McCarley SC, Mukhtar G, Ferlin A, Fleming A, Morris-Rosendahl DJ, Shovlin CL. J Clin Med. 2023 Dec 31;13(1):250.
McCarley...& Shovlin 2023: Pharmacogenomic Considerations for Anticoagulant Prescription in Patients with Hereditary Haemorrhagic Telangiectasia. McCarley SC, Murphy DA, Thompson J, Shovlin CL. J Clin Med. 2023 Dec 15;12(24):7710.
Xiao...& Shovlin 2023: Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA. Xiao S, Kai Z, Murphy D, Li D, Patel D, Bielowka AM, Bernabeu-Herrero ME, Abdulmogith A, Mumford AD, Westbury SK, Aldred MA, Vargesson N, Caulfield MJ; Genomics England Research Consortium; Shovlin CL. Am J Hum Genet. 2023 Nov 2;110(11):1903-1918.
Joyce...& Shovlin 2022: Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation. Joyce KE, Onabanjo E, Brownlow S, Nur F, Olupona K, Fakayode K, Sroya M, Thomas GA, Ferguson T, Redhead J, Millar CM, Cooper N, Layton DM, Boardman-Pretty F, Caulfield MJ; Genomics England Research Consortium; Shovlin CL. Blood Adv. 2022 Jul 12;6(13):3956-3969.
Hermann R, Shovlin CL, Kasthuri RS, Serra M, Eker O, Bailly S, Buscarini E, Dupuis Girod S, 2025. Hereditary haemorrhagic telangiectasia. Nat Rev Dis Primers 2025 Jan 9: https://rdcu.be/d5IFX.
Shovlin & Aldred, 2025: When “loss-of-function” means proteostasis burden: Thinking again about coding DNA variants. Am J Hum Genet 2025 Jan 2: https://authors.elsevier.com/a/1kN7fgeXA9XO.
Li....& Shovlin, 2024: Endogenous plasma resuspension of peripheral blood mononuclear cells prevents preparative-associated stress that modifies polyA-enriched RNA responses to subsequent acute stressors. Li D, Al-Dahleh K, Murphy DA, Georgieva S, Matthews N, Shovlin CL. Cell Stress. 2024 Nov 28;11:112-124:
Bielowka ....& Shovlin 2024: Acute endothelial stresses identify microRNA let-7b-5p and non-coding SLC11A2 (NRAMP2/DMT1) exon as biomarkers that overlap with those detected in malignant and non-malignant diseases. QJM. 2024 Dec 10:hcae235. doi: 10.1093/qjmed/hcae235. Online ahead of print.
Bernabeu-Herrero....& Shovlin, 2024: Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT. Bernabéu-Herrero ME, Patel D, Bielowka A, Zhu J, Jain K, Mackay IS, Chaves Guererro P, Emanuelli G, Jovine L, Noseda M, Marciniak SJ, Aldred MA, Shovlin CL. Blood. 2024 May 30;143(22):2314-2331.
Shovlin et al 2024: MEK 1 inhibition and bleeding in hereditary haemorrhagic telangiectasia. Shovlin CL, Patel D, Bielowka A, Ledermann JA, Modarresi A; Genomics England Research Consortium; Bernabeu-Herrero ME, Aldred MA, Alsafi A. Br J Haematol. 2024 Jan;204(1):361-365.
Jain....& Shovlin, 2023: Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction. Jain K, McCarley SC, Mukhtar G, Ferlin A, Fleming A, Morris-Rosendahl DJ, Shovlin CL. J Clin Med. 2023 Dec 31;13(1):250.
McCarley...& Shovlin 2023: Pharmacogenomic Considerations for Anticoagulant Prescription in Patients with Hereditary Haemorrhagic Telangiectasia. McCarley SC, Murphy DA, Thompson J, Shovlin CL. J Clin Med. 2023 Dec 15;12(24):7710.
Xiao...& Shovlin 2023: Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA. Xiao S, Kai Z, Murphy D, Li D, Patel D, Bielowka AM, Bernabeu-Herrero ME, Abdulmogith A, Mumford AD, Westbury SK, Aldred MA, Vargesson N, Caulfield MJ; Genomics England Research Consortium; Shovlin CL. Am J Hum Genet. 2023 Nov 2;110(11):1903-1918.
Joyce...& Shovlin 2022: Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation. Joyce KE, Onabanjo E, Brownlow S, Nur F, Olupona K, Fakayode K, Sroya M, Thomas GA, Ferguson T, Redhead J, Millar CM, Cooper N, Layton DM, Boardman-Pretty F, Caulfield MJ; Genomics England Research Consortium; Shovlin CL. Blood Adv. 2022 Jul 12;6(13):3956-3969.
GRANTS
- PROGRAMME GRANTBHF Research Excellence Award (4)British Heart Foundation