Imperial College London
Alternate

Claire L. Shovlin PhD FRCP

Faculty of Medicine, National Heart & Lung Institute

Professor of Practice (Clinical and Molecular Medicine)
 
 
 
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Contact

 

c.shovlin Website

 
 
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Location

 

534Block L Hammersmith HospitalHammersmith Campus

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Summary

 

Summary

Co-lead for the 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 for 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 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) and NHS North Thames Genomic Service Alliance (GMSA) which I represented on the NHS GMS Research Collaborative Steering Committee 2021-2023. In addition to Genomics education, I have set up and delivered Respiratory Physiology courses focusing on the pulmonary circulation and oxygen delivery, and designed online programmes to train cohorts of students in Data Analysis.

Current research foci are the impact of DNA variants on cellular responses to stress using HHT as a paradigm; development of functional tools for the post genomic era: and development of bioinformatic approaches to support health.  I continue to focus exclusively on research questions that matter to patients and the public.    

For further details on the research programmes, please see the Research Tab above. All publications and preprints can be found via ORCID, with selected recent publications listed below:

Selected Publications

Journal Articles

Bernabéu-Herrero ME, Patel D, Bielowka A, et al., 2024, Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT., Blood

Shovlin CL, Patel D, Bielowka A, et al., 2024, MEK 1 inhibition and bleeding in hereditary haemorrhagic telangiectasia, British Journal of Haematology, Vol:204, ISSN:0007-1048, Pages:361-365

Jain K, McCarley SC, Mukhtar G, et al., 2024, Pathogenic variant frequencies in hereditary haemorrhagic telangiectasia support clinical evidence of protection from myocardial infarction, Journal of Clinical Medicine, Vol:13, ISSN:2077-0383

McCarley SC, Murphy DA, Thompson J, et al., 2023, Pharmacogenomic considerations for anticoagulant prescription in patients with hereditary haemorrhagic telangiectasia, Journal of Clinical Medicine, Vol:12, ISSN:2077-0383

Xiao S, Kai Z, Murphy D, et al., 2023, Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA, American Journal of Human Genetics, Vol:110, ISSN:0002-9297, Pages:1903-1918

Shovlin C, Almaghlouth F, Alsafi A, et al., 2023, 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, Journal of Medical Genetics, ISSN:0022-2593

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

Mukhtar G, Shovlin CL, 2023, Unsupervised machine learning algorithms identify expected haemorrhage relationships but define unexplained coagulation profiles mapping to thrombotic phenotypes in hereditary haemorrhagic telangiectasia, Ejhaem, Vol:4, ISSN:2688-6146, Pages:602-611

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

Anderson E, Sharma L, Alsafi A, et al., 2022, Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia, Thorax, Vol:77, ISSN:0040-6376, Pages:628-630

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 (<i>HHT3</i>) 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, <i>endoglin</i> and <i>ALK-1</i>, 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

More Publications