Claire Shovlin

Imperial College London

United Kingdom

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Articles (15)

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2024

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2024

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2021

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2021

Collaborators (8)

Carmelo Bernabeu

Research Professor

SPAIN

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Deborah Morris-Rosendahl

Consultant Clinical Scientist and Head

Royal Marsden NHS Foundation Trust

UNITED KINGDOM

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Tom Fowler

Queen Mary University of London

UNITED KINGDOM

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Luca Jovine

Professor of Structural Biology

Karolinska Institutet

SWEDEN

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Christopher Streib

University of Minnesota

UNITED STATES

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Anette Drøhse Kjeldsen

DENMARK

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Jill Kilner

The Queen's University Belfast

UNITED KINGDOM

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Mark Alberts

Chief

UConn Health

UNITED STATES

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Claire Shovlin

Research Interests

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Articles (15)

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT

MEK 1 inhibition and bleeding in hereditary haemorrhagic telangiectasia

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

Unsupervised machine learning algorithms identify expected haemorrhage relationships but define unexplained coagulation profiles mapping to thrombotic phenotypes in hereditary haemorrhagic telangiectasia

Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction

Pharmacogenomic Considerations for Anticoagulant Prescription in Patients with Hereditary Haemorrhagic Telangiectasia

European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?

Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation.

Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia

Ischemic Stroke and Pulmonary Arteriovenous Malformations

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.

The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care.

DNA variant classification–reconsidering “allele rarity” and “phenotype” criteria in ACMG/AMP guidelines

Ischemic Stroke in Patients With Pulmonary Arteriovenous Fistulas

Collaborators (8)

Carmelo Bernabeu

Deborah Morris-Rosendahl

Tom Fowler

Luca Jovine

Christopher Streib

Anette Drøhse Kjeldsen

Jill Kilner

Mark Alberts

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