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Author Details

Leema Robert
Guys and St Thomas' NHS Trust
2007
19
14
PMIDPaper TitleJournal TitlePublished Year
35138330Association of Titin Variations With Late-Onset Dilated Cardiomyopathy.JAMA Cardiol2022
35779834Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN).Eur J Med Genet2022
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
33832526eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN).Orphanet J Rare Dis2021
30531895Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.Genet Med2019
31752940European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.Orphanet J Rare Dis2019
31829751Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease.Expert Rev Cardiovasc Ther2019
29021403Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability.J Med Genet2018
30071989Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.J Am Coll Cardiol2018
27582382Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.Clin Genet2017
28306229The 2017 international classification of the Ehlers-Danlos syndromes.Am J Med Genet C Semin Med Genet2017
28306228Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.Am J Med Genet C Semin Med Genet2017
28053047Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.Hum Mol Genet2017
27479907Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.Nat Genet2016
26498160Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.Europace2016
25564957Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome.JAMA Dermatol2015
26388241Vascular manifestations of syndromic aortopathies: role of current and emerging imaging techniques.Clin Radiol2015
25958341SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder.Neuromuscul Disord2015
17786115Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart.Clin Dysmorphol2007
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Collaborators

Caroline F Wright
University of Exeter, Royal Devon and Exeter Hospital
Co-authored papers 3
Teofila Bueser
National Institute for Health Research
Co-authored papers 3
Francesco Muntoni
UCL Great Ormond Street Institute of Child Health
Co-authored papers 2
Andrew O M Wilkie
NIHR Oxford Biomedical Research Centre
Co-authored papers 2
Willem H Ouwehand
University of Cambridge
Co-authored papers 2
Paul Brennan
Newcastle Hospitals NHS Foundation Trust
Co-authored papers 2
Xavier Jeunemaitre
Co-authored papers 2
Volker Straub
Translational and clinical research, Newcastle University Faculty of Medical Sciences
Co-authored papers 2
Frances Flinter
Guys' and St Thomas' NHS Foundation Trust
Co-authored papers 2
Helen Brittain
Queen Mary University of London
Co-authored papers 2
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 2
Helen V Firth
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 2
Hugh Watkins
Co-authored papers 2
Siddharth Banka
University of Manchester
Co-authored papers 2
Charu Deshpande
Guy's Hospital
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Soo-Mi Park
Cambridge University Hospital, NHS Foundation Trust
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Nigel Burrows
Addenbrooke's Hospital
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Susan Byrne
Royal College of Surgeons in Ireland
Co-authored papers 1
Philip L Beales
UCL Great Ormond Street Institute of Child Health, University College London
Co-authored papers 1
Rutendo Mapeta
Cambridge University Hospitals NHS Foundation
Co-authored papers 1
Matthew Welland
Co-authored papers 1
Maureen Cleary
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 1
Stephanie Grunewald
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 1
Antonio Rueda Martin
Queen Mary University of London
Co-authored papers 1
Arun John Baksi
Co-authored papers 1
Dragana Josifova
Guy's and St Thomas' Hospital
Co-authored papers 1
Douglass M Turnbull
Newcastle University
Co-authored papers 1
Diane Fatkin
Co-authored papers 1
Valentina Cipriani
William Harvey Research Institute, Queen Mary University of London
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Christopher Boustred
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