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D. Rowczenio · SciRah

Researcher profile · Semantic Scholar

D. Rowczenio

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D. Rowczenio — researcher profile on SciRah

h-index: 46
Works: 167
Citations: 9,016

Most-cited papers

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
D. Beck, M. Ferrada, K. Sikora, A. Ombrello +58 more
2020New England Journal of Medicine924 citations Open access
Semantic Scholar
A new staging system for cardiac transthyretin amyloidosis
J. Gillmore, T. Damy, M. Fontana, M. Hutchinson +11 more
2018European Heart Journal723 citations
Semantic Scholar
Classification criteria for autoinflammatory recurrent fevers
M. Gattorno, M. Hofer, S. Federici, F. Vanoni +39 more
2019Annals of the Rheumatic Diseases487 citations Open access
Semantic Scholar
Natural History, Quality of Life, and Outcome in Cardiac Transthyretin Amyloidosis.
T. Lane, M. Fontana, A. Martinez-Naharro, C. Quarta +21 more
2019Circulation460 citations Open access
Semantic Scholar
Occult Transthyretin Cardiac Amyloid in Severe Calcific Aortic Stenosis: Prevalence and Prognosis in Patients Undergoing Surgical Aortic Valve Replacement.
T. Treibel, M. Fontana, J. Gilbertson, S. Castelletti +10 more
2016Circulation Cardiovascular Imaging272 citations
Semantic Scholar
Diagnostic sensitivity of abdominal fat aspiration in cardiac amyloidosis
C. Quarta, Esther González López, J. Gilbertson, Nichola Botcher +12 more
2017European Heart Journal204 citations Open access
Semantic Scholar
Reduction in CMR Derived Extracellular Volume with Patisiran Indicates Cardiac Amyloid Regression.
M. Fontana, A. Martinez-Naharro, L. Chacko, D. Rowczenio +10 more
2020JACC Cardiovascular Imaging180 citations Open access
Semantic Scholar
Prognostic utility of the Perugini grading of 99mTc-DPD scintigraphy in transthyretin (ATTR) amyloidosis and its relationship with skeletal muscle and soft tissue amyloid
D. Hutt, M. Fontana, M. Burniston, A. Quigley +17 more
2017European Heart Journal-Cardiovascular Imaging175 citations Open access
Semantic Scholar
Echocardiographic phenotype and prognosis in transthyretin cardiac amyloidosis.
L. Chacko, R. Martone, F. Bandera, T. Lane +22 more
2020European Heart Journal165 citations Open access
Semantic Scholar
New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)
M. V. van Gijn, I. Ceccherini, Y. Shinar, E. Carbo +10 more
2018Journal of Medical Genetics156 citations Open access
Semantic Scholar
Natural history and outcomes in localised immunoglobulin light-chain amyloidosis: a long-term observational study.
S. Mahmood, F. Bridoux, C. Venner, S. Sachchithanantham +11 more
2015The Lancet Haematology128 citations
Semantic Scholar
Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience
D. Rowczenio, S. M. Gomes, J. Aróstegui, A. Mensa-Vilaró +11 more
2017Frontiers in Immunology124 citations Open access
Semantic Scholar
International multi-centre study of pregnancy outcomes with interleukin-1 inhibitors
T. Youngstein, Patrycja Hoffmann, A. Gül, T. Lane +15 more
2017Rheumatology114 citations Open access
Semantic Scholar
Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome.
D. Rowczenio, S. Pathak, J. Aróstegui, A. Mensa-Vilaró +15 more
2018Blood99 citations Open access
Semantic Scholar
Prevalence, characteristics and outcomes of older patients with hereditary versus wild‐type transthyretin amyloid cardiomyopathy
A. Porcari, Y. Razvi, A. Masi, R. Patel +16 more
2023European Journal of Heart Failure94 citations Open access
Semantic Scholar
Changing epidemiology of AA amyloidosis: clinical observations over 25 years at a single national referral centre
T. Lane, J. Pinney, J. Gilbertson, D. Hutt +10 more
2017Amyloid: Journal of Protein Folding Disorders87 citations Open access
Semantic Scholar
Progression of echocardiographic parameters and prognosis in transthyretin cardiac amyloidosis
L. Chacko, N. Karia, L. Venneri, F. Bandera +28 more
2022European Journal of Heart Failure83 citations Open access
Semantic Scholar
Sex differences among patients with transthyretin amyloid cardiomyopathy – from diagnosis to prognosis
R. Patel, Adam Ioannou, Y. Razvi, L. Chacko +21 more
2022European Journal of Heart Failure81 citations Open access
Semantic Scholar
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis
E. Omoyinmi, A. Standing, A. Keylock, Fiona E. Price-Kuehne +16 more
2017PLoS ONE80 citations Open access
Semantic Scholar
Abstract 13148: Clinical Importance of Left Atrial Infiltration in Cardiac Transthyretin Amyloidosis
F. Bandera, R. Martone, L. Chacko, S. Ganesananthan +20 more
2020Circulation79 citations
Semantic Scholar
The complementary role of histology and proteomics for diagnosis and typing of systemic amyloidosis
T. Rezk, J. Gilbertson, P. Mangione, D. Rowczenio +9 more
2019The Journal of Pathology: Clinical Research73 citations Open access
Semantic Scholar
Antibody-Associated Reversal of ATTR Amyloidosis-Related Cardiomyopathy.
M. Fontana, J. Gilbertson, G. Verona, M. Riefolo +20 more
2023New England Journal of Medicine60 citations Open access
Semantic Scholar
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Y. Shinar, I. Ceccherini, D. Rowczenio, I. Aksentijevich +20 more
2020Clinical Chemistry60 citations Open access
Semantic Scholar
Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue—a case series and genetic exploration
D. Rowczenio, D. Iancu, H. Trojer, J. Gilbertson +8 more
2017Rheumatology58 citations Open access
Semantic Scholar
Brief Report: Association of Tumor Necrosis Factor Receptor–Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24‐Nucleotide TNFRSF1A Deletion
D. Rowczenio, H. Trojer, E. Omoyinmi, J. Aróstegui +9 more
2016Arthritis & Rheumatology58 citations
Semantic Scholar
Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center
C. Peet, D. Rowczenio, E. Omoyinmi, C. Papadopoulou +4 more
2022Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease49 citations Open access
Semantic Scholar
Analysis of the TTR gene in the investigation of amyloidosis: A 25‐year single UK center experience
D. Rowczenio, C. Quarta, M. Fontana, C. Whelan +14 more
2018Human Mutation49 citations Open access
Semantic Scholar
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review
M. Labrousse, C. Kevorkian-Verguet, Guilaine Boursier, D. Rowczenio +8 more
2018Critical reviews in clinical laboratory sciences46 citations
Semantic Scholar
Exploratory Study of MYD88 L265P, Rare NLRP3 Variants, and Clonal Hematopoiesis Prevalence in Patients With Schnitzler Syndrome
S. Pathak, D. Rowczenio, R. Owen, G. Doody +8 more
2019Arthritis & Rheumatology45 citations
Semantic Scholar
Disease progression in cardiac transthyretin amyloidosis is indicated by serial calculation of National Amyloidosis Centre transthyretin amyloidosis stage
S. Law, A. Petrie, L. Chacko, Oliver C. Cohen +11 more
2020ESC Heart Failure41 citations Open access
Semantic Scholar
Diagnosis, pathogenesis and outcome in leucocyte chemotactic factor 2 (ALECT2) amyloidosis
T. Rezk, J. Gilbertson, D. Rowczenio, P. Bass +11 more
2016Nephrology, Dialysis and Transplantation41 citations
Semantic Scholar
Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein
D. Rowczenio, Maria Stensland, G. D. de Souza, E. Strøm +15 more
2016Kidney International Reports35 citations Open access
Semantic Scholar
Clinical and Prognostic Implications of Right Ventricular Uptake on Bone Scintigraphy in Transthyretin Amyloid Cardiomyopathy
A. Porcari, M. Fontana, M. Canepa, E. Biagini +28 more
2024Circulation34 citations Open access
Semantic Scholar
Diagnostic amyloid proteomics: experience of the UK National Amyloidosis Centre
D. Canetti, N. Rendell, J. Gilbertson, Nicola A. Botcher +10 more
2020Clinical Chemistry and Laboratory Medicine29 citations Open access
Semantic Scholar
Change in N-terminal pro-B-type natriuretic peptide at 1 year predicts mortality in wild-type transthyretin amyloid cardiomyopathy
S. Law, A. Petrie, L. Chacko, Oliver C. Cohen +11 more
2021Heart25 citations Open access
Semantic Scholar
Renal transplant outcomes in amyloidosis.
S. Law, Oliver C. Cohen, H. Lachmann, T. Rezk +6 more
2021Nephrology, Dialysis and Transplantation25 citations Open access
Semantic Scholar
Cardiac transplantation in transthyretin amyloid cardiomyopathy: Outcomes from three decades of tertiary center experience
Y. Razvi, A. Porcari, C. Di Nora, R. Patel +26 more
2023Frontiers in Cardiovascular Medicine24 citations Open access
Semantic Scholar
British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature.
D. Rowczenio, T. Youngstein, H. Trojer, E. Omoyinmi +6 more
2019Rheumatology23 citations Open access
Semantic Scholar
The experience of hereditary apolipoprotein A-I amyloidosis at the UK National Amyloidosis Centre
Oliver C. Cohen, I. Blakeney, S. Law, S. Ravichandran +12 more
2022Amyloid: Journal of Protein Folding Disorders22 citations Open access
Semantic Scholar
TNF Receptor Associated Periodic Syndrome associated with gonosomal mosaicism of a novel 24 nucleotide TNFRSF1A deletion
D. Rowczenio, H. Trojer, E. Omoyinmi, J. Aróstegui +10 more
201622 citations
Semantic Scholar
Deep phenotyping of p.(V142I)‐associated variant transthyretin amyloid cardiomyopathy: Distinct from wild‐type transthyretin amyloidosis?
Y. Razvi, Adam Ioannou, R. Patel, L. Chacko +26 more
2023European Journal of Heart Failure19 citations Open access
Semantic Scholar
A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype.
Birgitte Tougaard, K. V. Pedersen, S. Krag, J. Gilbertson +3 more
2016European Journal of Medical Genetics17 citations Open access
Semantic Scholar
Characteristics and natural history of early-stage cardiac transthyretin amyloidosis
S. Law, M. Bézard, A. Petrie, L. Chacko +17 more
2022European Heart Journal16 citations Open access
Semantic Scholar
The role of serial 99mTc-DPD scintigraphy in monitoring cardiac transthyretin amyloidosis
J. Ross, D. Hutt, M. Burniston, Simona F Grigore +6 more
2021Amyloid: Journal of Protein Folding Disorders16 citations
Semantic Scholar
Comparison of Different Technetium-99m-Labeled Bone Tracers for Imaging Cardiac Amyloidosis.
A. Porcari, D. Hutt, Simona F Grigore, A. Quigley +11 more
2022European Journal of Preventive Cardiology15 citations Open access
Semantic Scholar
Proteomic Analysis for the Diagnosis of Fibrinogen Aα-chain Amyloidosis
G. Taylor, J. Gilbertson, R. Sayed, Ángel Blanco +8 more
2019Kidney International Reports15 citations Open access
Semantic Scholar
The genomic landscape of plasma cells in systemic light chain amyloidosis.
E. Boyle, C. Ashby, C. Wardell, D. Rowczenio +17 more
2018Blood15 citations Open access
Semantic Scholar
Uncertain Clinical Relevance of Serial Bone Scintigraphy Findings in Treated Transthyretin Amyloid Cardiomyopathy.
Y. Razvi, A. Porcari, D. Hutt, J. Lazari +20 more
2025JACC Cardiovascular Imaging14 citations Open access
Semantic Scholar
Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey
D. Rowczenio, Y. Shinar, I. Ceccherini, Katie Sheils +3 more
2019European Journal of Human Genetics13 citations Open access
Semantic Scholar
Misidentification of transthyretin and immunoglobulin variants by proteomics due to methyl lysine formation in formalin-fixed paraffin-embedded amyloid tissue
D. Canetti, N. Rendell, Lucia Di Vagno, J. Gilbertson +12 more
2017Amyloid: Journal of Protein Folding Disorders13 citations Open access
Semantic Scholar

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