Summary
Co-lead for the new Social, Genetic & Environmental Determinants of Health Theme within the NIHR Imperial Biomedical Research Centre (2022 - 2027).
Based at Imperial College (Hammersmith campus), since 1999, I have run in parallel, national clinical services, and research programmes focussing on patients with vasculopathies, particularly pulmonary arteriovenous malformations (PAVMs) and hereditary haemorrhagic telangiectasia (HHT) as the National and for 5 years until Brexit, European (VASCERN) lead. With a Genetics first degree (Cambridge, First Class Honours 1984), and PhD (conducted in the Department of Genetics, Harvard Medical School 1993-1996), I have played major roles in the set up and delivery of the West London Genomic Medicine Centre; Imperial’s MSc in Genomic Medicine; the Genomics England Respiratory Clinical Interpretation Partnership (GeCIP) which I have chaired since 2019; and in the NHS North Thames Genomic Service Alliance (GMSA) which I represent on the NHS GMS Research Collaborative Steering Committee. Less well known are that I have set up and delivered major Respiratory Physiology courses, particularly focusing on the pulmonary circulation and oxygen delivery (as Module 1 Lead for Imperial College's iBSc in Remote Medicine) and deliver a programme to train cohorts of students in Data Analysis and Data Presentation enabling better research productivity in their eventual Projects.
Laboratory research foci include identification of new pathogenic genes via the 100,000 Genomes Project, therapeutic reversal of molecular defects that cause HHT, and development of wider bioinformatics and functional tools for medicine in the post genomic era. Clinical research foci include determining disease-modifying states and quantifiable tools for evaluation. I continue to focus exclusively on research questions that matter to patients, and the unique foci have provided novel, trans-disciplinary insights into human disease and personalised medicine.
For further details on the research programmes, please see the Research Tab above. All publications and preprints can be found via ORCID, with recent Shovlin first/ last author publications listed below:
- EJHaem. 2023 Jul 3;4(3):602-611.Unsupervised machine learning algorithms identify expected haemorrhage relationships but define unexplained coagulation profiles mapping to thrombotic phenotypes in hereditary haemorrhagic telangiectasia.
- J Med Genet. 2023 Aug 16:jmg-2023-109195. Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.
- Iron deficiency responses and integrated compensations in patients according to hereditary haemorrhagic telangiectasia ACVRL1, ENG and SMAD4 genotypes.
- 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 GE, Shovlin CL. Blood Adv 2022 Mar 22: Epub ahead of print.: Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variants.
- Balachandar S, Graves TJ, Shimonty A, Kerr K, Kilner J, Xiao S, Slade R, Sroya M, Alikian M, Curetean E, Thomas E, McConnell VPM, McKee S, Boardman-Pretty F, Devereau A, Fowler TA, Caulfield MJ, Alton EW, Ferguson T, Redhead J, McKnight AJ, Thomas GA; Genomics England Research Consortium, Aldred MA, Shovlin CL. Am J Med Genet A. 2022 Mar;188(3):959-964: Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
- Anderson E, Sharma L, Alsafi A, Shovlin CL. Thorax 2022 Feb 14: Epub ahead of print.: Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia
- Topiwala KK, Patel SD, Saver JL, Streib CD, Shovlin CL. Neurology 2022 Feb 1;98(5):188-198: Ischemic Stroke and Pulmonary Arteriovenous Malformations: A Review.
- Shovlin CL, Buscarini E, Sabbà C, Mager HJ, Kjeldsen AD, Pagella F, Sure U, Ugolini S, Torring PM, Suppressa P, Rennie C, Post MC, Patel MC, Nielsen TH, Manfredi G, Lenato GM, Lefroy D, Kariholu U, Jones B, Fialla AD, Eker OF, Dupuis O, Droege F, Coote N, Boccardi E, Alsafi A, Alicante S, Dupuis-Girod. Eur J Med Genet 2022 Jan;65(1):104370. The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care
- Davieson CD, Joyce KE, Sharma L, Shovlin CL. Eur J Med Genet 2021 Aug 16: DNA variant classification-reconsidering "allele rarity" and "phenotype" criteria in ACMG/AMP guidelines
- Shovlin CL, Simeoni I, Downes K, Frazer Z, Megy K, Bernabeu Herrero M, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin I, Aldred MA, Penkett C, Ouwehand WH, Jovine L, Turro E. Blood 2020 Oct 22;136(17):1907-1918: Mutational and Phenotypic Characterisation of Hereditary Hemorrhagic Telangiectasia
- Eker OF, Boccardi E, Sure U, Patel MC, Alicante S, Alsafi A, Coote N, Droege F, Dupuis O, Fialla AD, Jones B, Kariholu U, Kjeldsen AD, Lefroy D, Lenato GM, Mager HJ, Manfredi G, Nielsen TH, Pagella F, Post MC, Rennie C, Sabbà C, Suppressa P, Toerring PM, Ugolini S, Buscarini E, Dupuis-Girod S, Shovlin CL. Orphanet J Rare Dis. 2020 Jun 29;15(1):165: European Reference Network for Rare Vascular Diseases (VASCERN) Position Statement on Cerebral Screening in Adults and Children With Hereditary Haemorrhagic Telangiectasia (HHT)
- Vizcaychipi MP*, Shovlin CL*, McCarthy A*, Godfrey A, Patel S, Shah PL, Hayes M, Keays RT, Beveridge I, Davies G; Gary Davies on behalf of the ChelWest COVID19 Consortium. Braz J Infect Dis. 2020 Sep-Oct;24(5):412-421: Increase in COVID-19 inpatient survival following detection of Thromboembolic and Cytokine storm risk from the point of admission to hospital by a near real time Traffic-light System (TraCe-Tic)
- Clarke JM, Alikian M, Xiao S, Kasperaviciute D, Thomas E, Turbin I, Olupona K, Cifra E, Curetean E, Ferguson T, Redhead J; Genomics England Research Consortium, Shovlin CL. J Med Genet 2020 Apr 17: Low Grade Mosaicism in Hereditary Haemorrhagic Telangiectasia Identified by Bidirectional Whole Genome Sequencing Reads Through the 100,000 Genomes Project Clinical Diagnostic Pipeline
- Triage assessment of cardiorespiratory risk status based on measurement of the anaerobic threshold, and estimation by activity limitation in patients with pulmonary arteriovenous malformations and hereditary haemorrhagic telangiectasia
- Shovlin CL, Millar CM, Droege F, Kjeldsen A, Manfredi G, Suppressa P, Ugolini S, Coote N, Fialla AD, Geisthoff U, Lenato GM, Mager HJ, Pagella F, Post MC, Sabbà C, Sure U, Torring PM, Dupuis-Girod S, Buscarini E; VASCERN-HHT. Orphanet J Rare Dis 2019 Aug 28: Safety of Direct Oral Anticoagulants in Patients With Hereditary Hemorrhagic Telangiectasia
- QJM. 2019 May 1;112(5):335-342: Exercise Capacity Reflects Airflow Limitation Rather Than Hypoxaemia in Patients With Pulmonary Arteriovenous Malformations
Selected Publications
Journal Articles
Shovlin CL, Vizcaychipi MP, 2023, Vascular inflammation and endothelial injury in SARS-CoV-2 infection: the overlooked regulatory cascades implicated by the ACE2 gene cluster, Qjm: an International Journal of Medicine, Vol:116, ISSN:1460-2393, Pages:629-634
Shovlin CL, Buscarini E, Sabbà C, et al. , 2022, The European rare disease network for HHT frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care., European Journal of Medical Genetics, Vol:65, ISSN:1769-7212, Pages:104370-104370
Joyce KE, Onabanjo E, Brownlow S, et al. , 2022, Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variants, Blood Advances, Vol:6, ISSN:2473-9529, Pages:3956-3969
Balachandar S, Graves TJ, Shimonty A, et al. , 2022, Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations, American Journal of Medical Genetics, Vol:188, ISSN:0148-7299, Pages:959-964
Topiwala KK, Patel SD, Saver JL, et al. , 2021, Ischemic stroke and pulmonary arteriovenous malformations: a review., Neurology, Vol:98, ISSN:0028-3878, Pages:1-1
Davieson CD, Joyce KE, Sharma L, et al. , 2021, DNA variant classification–reconsidering “allele rarity” and “phenotype” criteria in ACMG/AMP guidelines, European Journal of Medical Genetics, Vol:64, ISSN:1769-7212, Pages:1-5
Topiwala KK, Patel SD, Pervez M, et al. , 2021, Ischemic stroke in patients with pulmonary arteriovenous fistulas, Stroke, Vol:52, ISSN:0039-2499, Pages:E311-E315
Clarke J, Alikian M, Xiao S, et al. , 2020, Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline, Journal of Medical Genetics, Vol:57, ISSN:0022-2593, Pages:859-862
Shovlin C, Simeoni I, Downes K, et al. , 2020, Mutational and phenotypic characterisation of hereditary hemorrhagic telangiectasia, Blood, Vol:136, ISSN:0006-4971, Pages:1907-1918
Vizcaychipi M, Shovlin C, McCarthy A, et al. , 2020, Development and implementation of a COVID-19 near real time traffic light system in an acute hospital setting, Emergency Medicine Journal, Vol:37, ISSN:1472-0205, Pages:630-636
Faughnan ME, Mager JJ, Hetts SW, et al. , 2020, Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia., Annals of Internal Medicine, ISSN:0003-4819, Pages:1-16
Vizcaychipi MP, Shovlin CL, McCarthy A, et al. , 2020, Increase in COVID-19 inpatient survival following detection of Thromboembolic and Cytokine storm risk from the point of admission to hospital by a near real time Traffic-light System (TraCe-Tic), Brazilian Journal of Infectious Diseases, Vol:24, ISSN:1413-8670, Pages:412-421
Eker OF, Boccardi E, Sure U, et al. , 2020, European Reference Network for Rare Vascular Diseases (VASCERN) Position Statement on Cerebral Screening in Adults and Children with Hereditary Haemorrhagic Telangiectasia (HHT), Orphanet Journal of Rare Diseases, Vol:15, ISSN:1750-1172
Shovlin C, Vizcaychipi M, 2020, Implications for COVID-19 triage from the ICNARC report of 2204 COVID-19 cases managed in UK adult intensive care units, Emergency Medicine Journal, Vol:37, ISSN:1472-0205, Pages:332-333
Shovlin C, Millar C, Droege F, et al. , 2019, Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia, Orphanet Journal of Rare Diseases, Vol:14, ISSN:1750-1172
Gawecki F, Strangeways T, Amin A, et al. , 2019, Exercise capacity reflects airflow limitation rather than hypoxaemia in patients with pulmonary arteriovenous malformations, Qjm: an International Journal of Medicine, Vol:112, ISSN:1460-2393, Pages:335-342
Alsafi A, Jackson JE, Fatania G, et al. , 2019, Patients with in-situ metallic coils and amplatzer vascular plugs used to treat pulmonary arteriovenous malformations since 1984 can safely undergo magnetic resonance imaging, British Journal of Radiology, Vol:92, ISSN:0007-1285
Thielemans L, Layton DM, Shovlin CL, 2019, Low serum haptoglobin and blood films suggest intravascular haemolysis contributes to severe anaemia in hereditary haemorrhagic telangiectasia, Haematologica - the Hematology Journal, Vol:104, ISSN:0390-6078, Pages:e127-e130
Buscarini E, Botella LM, Geisthoff U, et al. , 2019, Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia, Orphanet Journal of Rare Diseases, Vol:14, ISSN:1750-1172
Gawecki F, Myers J, Shovlin C, 2019, The Veterans Specific Activity Questionnaire (VSAQ) - a new and efficient method of assessing exercise capacity in patients with pulmonary arteriovenous malformations, Bmj Open Respiratory Research, Vol:6, ISSN:2052-4439
Shovlin C, Bamford K, Sabbà C, et al. , 2019, Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination, Haematologica - the Hematology Journal, Vol:104, ISSN:0390-6078, Pages:e85-e86
Fatania G, Gilson C, Glover A, et al. , 2018, Uptake and radiological findings of screening cerebral magnetic resonance scans in patients with hereditary haemorrhagic telangiectasia, Intractable & Rare Diseases Research, Vol:7, ISSN:2186-361X, Pages:236-244
Shovlin CL, Buscarini E, Kjeldsen AD, et al. , 2018, European Reference Network for Rare Vascular Diseases (VASCERN) outcome measures for hereditary haemorrhagic telangiectasia (HHT), Orphanet Journal of Rare Diseases, Vol:13, ISSN:1750-1172
Shovlin CL, Condliffe R, Donaldson JW, et al. , 2017, British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations., Thorax, Vol:72, ISSN:1468-3296, Pages:1154-1163
Shovlin CL, Condliffe R, Donaldson JW, et al. , 2017, Pulmonary arteriovenous malformations emerge from the shadows, Thorax, Vol:72, ISSN:1468-3296, Pages:1071-1073
Shovlin CL, Buscarini E, Hughes JMB, et al. , 2017, Long-term outcomes of patients with pulmonary arteriovenous malformations considered for lung transplantation, compared with similarly hypoxaemic cohorts, Bmj Open Respiratory Research, Vol:4, ISSN:2052-4439
Dupuis-Girod S, Cottin V, Shovlin CL, 2017, The Lung in Hereditary Hemorrhagic Telangiectasia, Respiration, Vol:94, ISSN:1423-0356, Pages:315-330
Boother EJ, Brownlow S, Tighe HC, et al. , 2017, Cerebral abscess associated with odontogenic bacteremias, hypoxemia, and iron loading in immunocompetent patients with right-to-left shunting through pulmonary arteriovenous malformations., Clinical Infectious Diseases, Vol:65, ISSN:1537-6591, Pages:595-603
Rizvi A, Macedo P, Babawale L, et al. , 2017, Hemoglobin Is a Vital Determinant of Arterial Oxygen Content in Hypoxemic Patients with Pulmonary Arteriovenous Malformations., Annals of the American Thoracic Society, Vol:14, ISSN:2329-6933, Pages:903-911
Shovlin CL, Patel T, Elphick A, et al. , 2016, Injections of intravenous contrast for computerized tomography scans precipitate migraines in hereditary hemorrhagic telangiectasia subjects at risk of paradoxical emboli: implications for right-to-left shunt risks, Headache, Vol:56, ISSN:0017-8748, Pages:1659-1663
Shovlin CL, Patel T, Jackson JE, 2016, Embolisation of PAVMs reported to improve nosebleeds by a subgroup of patients with hereditary haemorrhagic telangiectasia, Erj Open Research, Vol:2, ISSN:2312-0541
Shovlin CL, Gilson C, Busbridge M, et al. , 2016, Can iron treatments aggravate epistaxis in some patients with hereditary hemorrhagic telangiectasia?, The Laryngoscope, Vol:126, ISSN:1091-756X, Pages:2468-2474
Shovlin CL, Awan I, Cahilog Z, et al. , 2016, Reported cardiac phenotypes in hereditary hemorrhagic telangiectasia emphasize burdens from arrhythmias, anemia and its treatments, but suggest reduced rates of myocardial infarction, International Journal of Cardiology, Vol:215, ISSN:1874-1754, Pages:179-185
Mollet IG, Patel D, Govani FS, et al. , 2016, Low Dose Iron Treatments Induce a DNA Damage Response in Human Endothelial Cells within Minutes, PLOS One, Vol:11, ISSN:1932-6203
Shovlin CL, 2015, Circulatory contributors to the phenotype in hereditary hemorrhagic telangiectasia, Frontiers in Genetics, Vol:06, ISSN:1664-8021
Shovlin CL, 2014, Pulmonary arteriovenous malformations., Am J Respir Crit Care Med, Vol:190, Pages:1217-1228
Santhirapala V, Chamali B, McKernan H, et al. , 2014, Orthodeoxia and postural orthostatic tachycardia in patients with pulmonary arteriovenous malformations: a prospective 8-year series, Thorax, Vol:69, ISSN:0040-6376, Pages:1046-1047
Howard LSGE, Santhirapala V, Murphy K, et al. , 2014, Cardiopulmonary Exercise Testing Demonstrates Maintenance of Exercise Capacity in Patients With Hypoxemia and Pulmonary Arteriovenous Malformations, Chest, Vol:146, ISSN:0012-3692, Pages:709-718
Elphick A, Shovlin CL, 2014, Relationships Between Epistaxis, Migraines, and Triggers in Hereditary Hemorrhagic Telangiectasia, Laryngoscope, Vol:124, ISSN:0023-852X, Pages:1521-1528
Shovlin CL, 2014, Iron deficiency, ischaemic strokes, and right-to-left shunts: From pulmonary arteriovenous malformations to patent foramen ovale?, Intractable & Rare Diseases Research, Vol:3, Pages:60-64
Finnamore HE, Whelan K, Hickson M, et al. , 2014, Top dietary iron sources in the UK, British Journal of General Practice, Vol:64, ISSN:0960-1643, Pages:172-173
Santhirapala V, Williams LC, Tighe HC, et al. , 2014, Arterial oxygen content is precisely maintained by graded erythrocytotic responses in settings of high/normal serum iron levels, and predicts exercise capacity: an observational study of hypoxaemic patients with pulmonary arteriovenous malformations., Plos One, Vol:9
Shovlin CL, Chamali B, Santhirapala V, et al. , 2014, Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets., Plos One
Hosman AE, Devlin HL, Silva BM, et al. , 2013, Specific cancer rates may differ in patients with hereditary haemorrhagic telangiectasia compared to controls, Orphanet Journal of Rare Diseases, Vol:8, ISSN:1750-1172
Finnamore H, Le Couteur J, Hickson M, et al. , 2013, Hemorrhage-Adjusted Iron Requirements, Hematinics and Hepcidin Define Hereditary Hemorrhagic Telangiectasia as a Model of Hemorrhagic Iron Deficiency, PLOS One, Vol:8, ISSN:1932-6203
Govani FS, Giess A, Mollet IG, et al. , 2013, Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia, Molecular Syndromology, Vol:4, ISSN:1661-8777, Pages:184-196
Devlin HL, Hosman AE, Shovlin CL, 2013, Antiplatelet and anticoagulant agents in hereditary hemorrhagic telangiectasia., New England Journal of Medicine, Vol:368, Pages:876-878
Silva BM, Hosman AE, Devlin HL, et al. , 2013, Lifestyle and Dietary Influences on Nosebleed Severity in Hereditary Hemorrhagic Telangiectasia, Laryngoscope, Vol:123, ISSN:0023-852X, Pages:1092-1099
Mason CG, Shovlin CL, 2011, Flight-related complications are infrequent in patients with hereditary haemorrhagic telangiectasia/pulmonary arteriovenous malformations, despite low oxygen saturations and anaemia., Thorax
Shovlin CL, 2010, Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment., Blood Reviews, Vol:24, ISSN:1532-1681, Pages:203-219
Govani FS, Shovlin CL, 2010, Fine mapping of the hereditary haemorrhagic telangiectasia (HHT)3 locus on chromosome 5 excludes VE-Cadherin-2, Sprouty4 and other interval genes., J Angiogenes Res, Vol:2
Shovlin CL, Angus G, Manning RA, et al. , 2010, Endothelial cell processing and alternatively spliced transcripts of factor VIII: potential implications for coagulation cascades and pulmonary hypertension., Plos One, Vol:5
Shovlin CL, 2009, Ischaemic stroke and thrombolysis- time to consider the HHT question, Ebmj
Govani FS, Shovlin CL, 2009, Hereditary haemorrhagic telangiectasia: a clinical and scientific review, European Journal of Human Genetics, Vol:17, ISSN:1476-5438, Pages:860-871
Shovlin CL, Gibbs JSR, Jackson JE, 2008, Management of pulmonary arteriovenous malformations in pulmonary hypertensive patients. A pressure to embolise?, Eur Respir Rev, Vol:18, Pages:4-6
Shovlin CL, Bamford KB, Wray D, 2008, Post-NICE 2008: Antibiotic prophylaxis prior to dental procedures for patients with pulmonary arteriovenous malformations (PAVMs) and hereditary haemorrhagic telangiectasia, British Dental Journal, Vol:205, Pages:531-533
Shovlin CL, Tighe HC, Davies RJ, et al. , 2008, Embolization of pulmonary AVMs: no consistent effect on pulmonary artery pressure, European Respiratory Journal, Vol:32, ISSN:1399-3003, Pages:162-169
Shovlin CL, Sodhi V, McCarthy A, et al. , 2008, Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): suggested approach for obstetric services, Bjog-an International Journal of Obstetrics and Gynaecology, Vol:115, ISSN:1471-0528, Pages:1108-1115
Shovlin CL, Jackson JE, Bamford KB, et al. , 2007, Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia, Thorax, Vol:63, ISSN:0040-6376, Pages:259-266
Shovlin C, Sulainam N, Govani FS, et al. , 2007, Elevated Factor VIII in hereditary haemorrhagic telangiectasia (HHT): association with venous thromboembolism, Thrombosis and Haemostasis, Vol:98, ISSN:0340-6245, Pages:1031-1039
Cole SG, Begbie ME, Wallace GMF, et al. , 2005, A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5, Journal of Medical Genetics, Vol:42, ISSN:0022-2593, Pages:577-582
Gupta P, Mordin C, Curtis J, et al. , 2002, Pulmonary arteriovenous malformations: Effect of embolization on right-to-left shunt, hypoxemia, and exercise tolerance in 66 patients, American Journal of Roentgenology, Vol:179, ISSN:0361-803X, Pages:347-355
Whittle AT, Davis M, Shovlin CL, et al. , 2001, Alveolar macrophage activity and the pulmonary complications of haematopoietic stem cell transplantation, Thorax, Vol:56, ISSN:0040-6376, Pages:941-946
Wallace GMF, Shovlin CL, 2000, A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1, Thorax, Vol:55, ISSN:0040-6376, Pages:685-690
Shovlin CL, 2000, Genetic aspects of cerebrovascular malformations, Interventional Neuroradiology, Vol:6, ISSN:1591-0199, Pages:107-111
Shovlin CL, Guttmacher AE, Buscarini E, et al. , 2000, Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome), American Journal of Medical Genetics, Vol:91, ISSN:0148-7299, Pages:66-67
Shovlin CL, 1999, Supermodels and disease: insights from the HHT mice, Journal of Clinical Investigation, Vol:104, ISSN:0021-9738, Pages:1335-1336
Shovlin CL, Letarte M, 1999, Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms, Thorax, Vol:54, ISSN:0040-6376, Pages:714-729
Shovlin CL, 1998, Glaxo/MRS Young Investigator Medal. Molecular studies on adenosine deaminase deficiency and hereditary haemorrhagic telangiectasia., Clinical Science, Vol:94, ISSN:0143-5221, Pages:207-218
Shovlin CL, Hughes JMB, Scott J, et al. , 1997, Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia, American Journal of Human Genetics, Vol:61, ISSN:0002-9297, Pages:68-79
Shovlin CL, 1996, Streamlined procedures for screening a P1 library., Biotechniques, Vol:21, ISSN:0736-6205, Pages:388-390
Shovlin CL, Scott J, 1996, Inherited diseases of the vasculature, Annual Review of Physiology, Vol:58, ISSN:0066-4278, Pages:483-507
Shovlin CL, Winstock AR, Peters AM, et al. , 1995, Medical complications of pregnancy in hereditary haemorrhagic telangiectasia, QJM-an International Journal of Medicine, Vol:88, ISSN:1460-2725, Pages:879-887
SHOVLIN CL, SIMMONDS HA, FAIRBANKS LD, et al. , 1994, ADULT-ONSET IMMUNODEFICIENCY CAUSED BY INHERITED ADENOSINE-DEAMINASE DEFICIENCY, Journal of Immunology, Vol:153, ISSN:0022-1767, Pages:2331-2339
SHOVLIN CL, HUGHES JMB, TUDDENHAM EGD, et al. , 1994, A GENE FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA MAPS TO CHROMOSOME 9Q3, Nature Genetics, Vol:6, ISSN:1061-4036, Pages:205-209
Shovlin CL, Hughes JM, Simmonds HA, et al. , 1993, Adult presentation of adenosine deaminase deficiency., The Lancet, Vol:341, ISSN:0140-6736
SHOVLIN CL, HUGHES JMB, SIMMONDS HA, et al. , 1993, ADULT PRESENTATION OF ADENOSINE-DEAMINASE DEFICIENCY, The Lancet, Vol:341, ISSN:0140-6736, Pages:1471-1471
RAI GS, SHOVLIN C, WESNES KA, 1991, A DOUBLE-BLIND, PLACEBO CONTROLLED-STUDY OF GINKGO-BILOBA EXTRACT (TANAKAN) IN ELDERLY OUTPATIENTS WITH MILD TO MODERATE MEMORY IMPAIRMENT, Current Medical Research and Opinion, Vol:12, ISSN:0300-7995, Pages:350-355
Chapters
Shovlin CL, Ganesan V, 2014, Hereditary hemorrhagic telangiectasia, Up to Date in Clinical Medicine, Editor(s): Ternauer
Shovlin CL, Oh P, 2010, Hereditary hemorrhagic telangiectasia, Molecular Basis of Lung Disease, Editor(s): McCormack, Panos, Trapnell, Springer Science and Business Media, Pages:167-183
Shovlin CL, Jackson JE, 2010, Pulmonary arteriovenous malformations and other pulmonary vascular abnormalities., Murray and Nadel’s Textbook of Respiratory Medicine, Editor(s): Mason, Broaddus, Martin, King, Schraufnagel, Murray, Nadel, Saunders Elsevier, Pages:1261-1282
Reports
Pirmohammed M, O’Donoghue D, Turner R, et al. , 2022, Personalised Prescribing. Using pharmacogenomics to improve patient outcomes. A report from the Royal College of Physicians and British Pharmacological Society joint working party