P. Syrris

发表

Formation and Malformation of Cardiac Trabeculae: Biological Basis, Clinical Significance, and Special Yield of Magnetic Resonance Imaging in Assessment.

James C Moon, Giuseppe Limongelli, Gabriella Captur, 2015, The Canadian journal of cardiology.

Abnormal Cardiac Formation in Hypertrophic Cardiomyopathy: Fractal Analysis of Trabeculae and Preclinical Gene Expression

P. Elliott, J. Moon, V. Muthurangu, 2014, Circulation. Cardiovascular genetics.

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2016 .

The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy.

H. Calkins, P. Syrris, J. P. van Tintelen, 2020, European heart journal.

Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular Cardiomyopathy

M. Simpson, J. Mogensen, P. Syrris, 2005, Circulation.

Atlas of the clinical genetics of human dilated cardiomyopathy.

Karen S. Frese, R. Bellazzi, M. Bolognesi, 2014, European heart journal.

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

Claudia Giambartolomei, Mike Hubank, Petros Syrris, 2013, Journal of Medical Genetics.

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature

E. Arbustini, J. Moon, G. Captur, 2018, Open Heart.

Lamin and the heart

E. Arbustini, P. Elliott, J. Moon, 2017, Heart.

P Arrhythmogenic Cardiomyopathy Left-Dominant Arrhythmogenic Cardiomyopathy An UnderRecognized Clinical Entity

D. Pennell, R. Merrifield, P. Syrris, 2008 .

Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.

Dudley J Pennell, Sanjay K Prasad, Robert Merrifield, 2008, Journal of the American College of Cardiology.

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

R. Hauer, H. Calkins, A. Wilde, 2018, PloS one.

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

N. Sebire, M. Ashworth, P. Elliott, 2008, Heart.

Arrhythmogenic Right Ventricular Cardiomyopathy

P. Syrris, S. Sen-Chowdhry, W. McKenna, 2009 .

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

M. Sheppard, G. Carr-White, P. Elliott, 2010, Circulation. Cardiovascular genetics.

Genetics of Dilated Cardiomyopathy: Risk of Conduction Defects and Sudden Cardiac Death.

P. Syrris, S. Sen-Chowdhry, W. McKenna, 2010, Cardiac electrophysiology clinics.

Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report

P. Lambiase, H. Calkins, D. Corrado, 2019, European journal of heart failure.

Novel missense mutations in exon 15 of desmoglein-2: Role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

J. Saffitz, T. Cahill, L. Monserrat, 2010, Heart rhythm.

Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

P. Syrris, S. Sen-Chowdhry, W. McKenna, 2007, Journal of the American College of Cardiology.

Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.

P. Syrris, S. Sen-Chowdhry, W. McKenna, 2006, European heart journal.

Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.

P. Syrris, S. Sen-Chowdhry, W. McKenna, 2006, American journal of human genetics.

Genetics of Right Ventricular Cardiomyopathy

P. Syrris, S. Sen-Chowdhry, W. McKenna, 2005, Journal of cardiovascular electrophysiology.

Clinical Expression of Plakophilin-2 Mutations in Familial Arrhythmogenic Right Ventricular Cardiomyopathy

P. Elliott, P. Syrris, S. Sen-Chowdhry, 2006, Circulation.

Transforming growth factor-beta1 gene polymorphisms and coronary artery disease.

J. Gunn, J. Kaski, D. Crossman, 1998, Clinical science.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

The Influence of Pharmacogenetics on the Time to Achieve Target Tacrolimus Concentrations after Kidney Transplantation

P. Syrris, D. Holt, I. Macphee, 2004, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.

P. Syrris, A. Pittman, C. Dalageorgou, 2020, International journal of cardiology.

Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study

P. Lambiase, J. Saffitz, P. Syrris, 2012, European heart journal.

Molecular changes in the heart of a severe case of arrhythmogenic right ventricular cardiomyopathy caused by a desmoglein-2 null allele.

J. Saffitz, E. Ehler, P. Syrris, 2012, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

A novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions

P. Lambiase, J. Saffitz, E. Ehler, 2011, Heart rhythm.

Clinical Impact of Genetics in Arrhythmogenic Cardiomyopathy

P. Syrris, G. Quarta, S. Sen-Chowdhry, 2011 .

Arrhythmogenic right ventricular cardiomyopathy/dysplasia on the basis of the revised diagnostic criteria in affected families with desmosomal mutations

G. Thiene, C. Basso, C. Stefanadis, 2011, European heart journal.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2018, bioRxiv.

Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype

P. Lambiase, W. Mckenna, D. Kelsell, 2019, The British journal of dermatology.

Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers

P. Elliott, P. Syrris, J. Ochoa, 2020, Journal of the American College of Cardiology.

RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy.

R. Lovering, C. Coarfa, A. Marian, 2019, International journal of cardiology.

Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.

G. Di Salvo, P. Elliott, M. Digilio, 2007, The American journal of cardiology.

The novel desmin variant p.Leu115Ile is associated with a unique form of biventricular Arrhythmogenic Cardiomyopathy.

M. Ashworth, P. Elliott, P. Syrris, 2020, The Canadian journal of cardiology.

NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases.

P. Syrris, M. Silengo, N. Carter, 2008, Genetic testing.

Prevalence of Sarcomere Protein Gene Mutations in Preadolescent Children With Hypertrophic Cardiomyopathy

P. Elliott, P. Syrris, J. Deanfield, 2008, Circulation. Cardiovascular genetics.

Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy: Impact of Genetics and Revised Task Force Criteria

P. Elliott, P. Syrris, P. García-Pavía, 2011, Circulation.

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy

P. Elliott, L. Monserrat, P. Syrris, 2020, Heart.

Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression

A. Keren, P. Syrris, W. McKenna, 2008, Nature Clinical Practice Cardiovascular Medicine.

Long-Term Outcomes in Hypertrophic Cardiomyopathy Caused by Mutations in the Cardiac Troponin T Gene

P. Elliott, J. Mogensen, P. Syrris, 2012, Circulation. Cardiovascular genetics.

Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study

A. Hughes, E. Arbustini, J. Moon, 2019, Acta myologica.

Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: Genetic characteristics.

P. Syrris, W. McKenna, S. Castelletti, 2019, International journal of cardiology.

Desmoglein-2 interaction is crucial for cardiomyocyte cohesion and function.

P. Syrris, Eva Hartlieb, J. Waschke, 2014, Cardiovascular research.

Impact of Genetics and Revised Task Force Criteria Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy

P. Elliott, P. Syrris, P. García-Pavía, 2011 .

Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations

J. Saffitz, P. Syrris, W. McKenna, 2009, Journal of cutaneous pathology.

Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.

D. Panagiotakos, C. Stefanadis, P. Syrris, 2006, European heart journal.

Evidence From Family Studies for Autoimmunity in Arrhythmogenic Right Ventricular Cardiomyopathy

S. Iliceto, G. Thiene, C. Basso, 2020, Circulation.

Prevalence of 18 F-Fluorodeoxyglucose Positron Emission Tomography Abnormalities in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy

P. Syrris, L. Menezes, E. Wicks, 2018 .

Diagnosis: Task Force Criteria including Modifications for Family Members

P. Syrris, W. McKenna, D. Ward, 2007 .

Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy.

D. Panagiotakos, C. Stefanadis, P. Syrris, 2016, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

[Left dominant arrhythmogenic cardiomyopathy caused by a novel nonsense mutation in desmoplakin].

P. Syrris, A. Salvador, E. Zorio, 2011, Revista espanola de cardiologia.

Non‐enzymatic glycosylation of the dipeptide l‐carnosine, a potential anti‐protein‐cross‐linking agent

P. Syrris, A. Hipkiss, J. Michaelis, 1995, FEBS letters.

Desmoplakin disease in arrhythmogenic right ventricular cardiomyopathy: early genotype-phenotype studies.

P. Syrris, W. McKenna, S. Sen‐Chowdhry, 2005, European heart journal.

Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study.

P. Elliott, J. Moon, G. Captur, 2019, European heart journal cardiovascular Imaging.

Prevalence of 18F-fluorodeoxyglucose positron emission tomography abnormalities in patients with arrhythmogenic right ventricular cardiomyopathy.

M. Ashworth, P. Elliott, P. Syrris, 2019, International Journal of Cardiology.

International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

D. Judge, R. L. Lekanne Deprez, R. Hershberger, 2021, Circulation. Genomic and precision medicine.

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

P. Elliott, L. Monserrat, P. Syrris, 2021, European heart journal.

Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator

C. Basso, J. Mogensen, M. Pavlou, 2022, European heart journal.

Loss of function desmoplakin I and II mutations underlie dominant arrhythmogenic diomyopathy with a hair and skin phenotype Maruthappu,

D. Kelsell, P. Syrris, K. Green, 2018 .

Epicardial myocardial strain abnormalities may identify the earliest stages of arrhythmogenic cardiomyopathy

J. Moon, P. Syrris, W. McKenna, 2016, The International Journal of Cardiovascular Imaging.

Alpha kinase 3 signaling at the M-band maintains sarcomere integrity and proteostasis in striated muscle

P. Elliott, M. Ramialison, P. Syrris, 2022, bioRxiv.

Tacrolimus pharmacogenetics: polymorphisms associated with expression of cytochrome p4503A5 and p-glycoprotein correlate with dose requirement

P. Syrris, D. Holt, I. Macphee, 2002, Transplantation.

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019, Nature Communications.

Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus.

P. Syrris, N. Carter, L. Abushaban, 2008, Genetic testing.

Genetic basis of arrhythmogenic cardiomyopathy

P. Syrris, Jennifer L. Karmouch, A. Protonotarios, 2018, Current opinion in cardiology.

Cardiac abnormalities in patients with Leber’s hereditary optic neuropathy

P. Elliott, P. Syrris, W. McKenna, 2003, Heart.

Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions

P. Syrris, S. Jeffery, N. Carter, 2001, Journal of medical genetics.

Transforming growth factor-beta1 gene polymorphisms and coronary artery disease.

J. Gunn, J. Kaski, D. Crossman, 1998, Clinical science.

Carnosine protects proteins against in vitro glycation and cross-linking.

P. Syrris, A. Hipkiss, S. Kumar, 1994, Biochemical Society transactions.

Cardiomyopathy Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular

M. Simpson, J. Mogensen, P. Syrris, 2010 .

Principles and Practice of Clinical Cardiovascular Genetics

P. Syrris, 2010 .

A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy.

J. Saffitz, P. Syrris, T. Wichter, 2007, American journal of human genetics.

Transforming growth factor-b1 gene polymorphisms and coronary artery disease

J. Kaski, P. Syrris, D. Grainger, 1998 .

Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families.

E. Behr, M. Christiansen, P. Syrris, 2008, European heart journal.

Polymorphism in apolipoprotein(a) kringle IV 37 (Met/Thr): Frequency in a London population and its association with coronary artery disease

J. Kaski, P. Syrris, S. Jeffery, 1997, Clinical cardiology.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Thomas M. Keane, Chin Yang Shapland, 2018, bioRxiv.

Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.

M. Patton, P. Syrris, N. Carter, 1999, American journal of medical genetics.

Interleukin-1 receptor antagonist gene polymorphism and coronary artery disease.

N. Camp, J. Gunn, J. Kaski, 1999, Circulation.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Klaudia Walter, Nicholas J Timpson, 2015, Nature Communications.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Human piebaldism: six novel mutations of the proto‐oncogene KIT

K. Devriendt, P. Syrris, M. McEntagart, 2002, Human mutation.

Three novel mutations of the proto-oncogene KIT cause human piebaldism.

M. Patton, P. Syrris, V. Murday, 2000, American journal of medical genetics.

Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations

M. Christiansen, P. Andersen, P. Syrris, 2008, European Journal of Human Genetics.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations

J. Saffitz, C. Stefanadis, E. Ehler, 2010, Cardiovascular research.

UK 10 K Consortium

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2019 .

Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy

P. Elliott, P. Syrris, A. Pittman, 2019, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

The structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants

Andrew C. R. Martin, Petros Syrris, Perry Elliott, 2016, Bioinform..

Prevalence of Sequence Variants in the RAS-Mitogen Activated Protein Kinase Signaling Pathway in Pre-Adolescent Children With Hypertrophic Cardiomyopathy

P. Hammond, A. Shaw, M. Ashworth, 2012, Circulation. Cardiovascular genetics.

The genetic architecture of Plakophilin 2 cardiomyopathy

R. Nussbaum, L. Mestroni, C. Basso, 2021, Genetics in Medicine.

An Evidence-based Assessment of Genes in Dilated Cardiomyopathy

D. Judge, J. Ware, R. L. Lekanne Deprez, 2020, medRxiv.

Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy

M. Hubank, V. Plagnol, P. Elliott, 2014, Heart.

A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort

D. Corrado, G. Thiene, C. Basso, 2020, International journal of molecular sciences.

Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression

A. Keren, P. Syrris, W. McKenna, 2008, Nature Clinical Practice Cardiovascular Medicine.

Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome

E. Behr, A. Casey, M. Sheppard, 2003, The Lancet.

Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database

P. Syrris, C. Dalageorgou, W. McKenna, 2018, European Journal of Human Genetics.

Cryptic Splice-altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy.

P. Elliott, M. Carmo-Fonseca, L. Monserrat, 2020, Circulation. Genomic and precision medicine.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.

P. Elliott, P. Syrris, K. Hodgkinson, 2013, European heart journal.

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.

M. Ashworth, P. Elliott, P. Syrris, 2012, European heart journal.

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

P. Elliott, P. Syrris, M. Cobo-Marcos, 2011, Heart.

Quantification of mitochondrial sublimons in human fibrillating atria.

A. Camm, P. Syrris, G. Arno, 2004, Clinical science.

Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.

M. Patton, P. Syrris, P. Guicheney, 1999, Circulation.

Lack of c‐kit mutation in familial urticaria pigmentosa

P. Syrris, S. Jeffery, N. Carter, 1999, The British journal of dermatology.

Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history.

P. Elliott, J. Mogensen, J. Holton, 2005, Journal of the American College of Cardiology.

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

Petros Syrris, M. Patton, P. Syrris, 2000, Journal of medical genetics.

Risk score for the exclusion of arrhythmic events in arrhythmogenic right ventricular cardiomyopathy at first presentation.

E. Behr, A. Krahn, P. Syrris, 2019, International journal of cardiology.

Identification of a Multiplex Biomarker Panel for Hypertrophic Cardiomyopathy Using Quantitative Proteomics and Machine Learning*

P. Elliott, J. Moon, W. Heywood, 2019, Molecular & Cellular Proteomics.

Clinical and Genetic Characterization of Families With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Provides Novel Insights Into Patterns of Disease Expression

Petros Syrris, Deirdre Ward, P. Syrris, 2007, Circulation.

Hypertrophy Regression With N-Acetylcysteine in Hypertrophic Cardiomyopathy (HALT-HCM): A Randomized, Placebo-Controlled, Double-Blind Pilot Study

D. Bluemke, S. Nagueh, A. Marian, 2018, Circulation research.

Cardiac Myosin Binding Protein-C Mutations in Families With Hypertrophic Cardiomyopathy: Disease Expression in Relation to Age, Gender, and Long Term Outcome

P. Elliott, M. Christiansen, P. Andersen, 2012, Circulation. Cardiovascular genetics.

Proteomic Analysis of the Myocardium in Hypertrophic Obstructive Cardiomyopathy

N. Sebire, M. Ashworth, P. Elliott, 2018, Circulation. Genomic and precision medicine.

Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.

P. Schwartz, G. Parati, P. Syrris, 2017, International journal of cardiology.

Cardiovascular magnetic resonance in arrhythmogenic right ventricular cardiomyopathy revisited: comparison with task force criteria and genotype.

D. Pennell, D. Firmin, R. Merrifield, 2006, Journal of the American College of Cardiology.

Clinical Significance of Epsilon Waves in Arrhythmogenic Cardiomyopathy

P. Syrris, D. Tousoulis, W. McKenna, 2015, Cardiovascular Electrophysiology.

Abnormal septal convexity into the left ventricle occurs in subclinical hypertrophic cardiomyopathy

P. Elliott, J. Moon, C. Manisty, 2015, Journal of Cardiovascular Magnetic Resonance.

A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity

P. Elliott, M. Christiansen, P. Andersen, 2012, Biochemistry research international.

Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants.

P. Elliott, P. Syrris, A. Pittman, 2021, Circulation. Genomic and precision medicine.

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy.

P. Syrris, G. Limongelli, W. McKenna, 2006, European journal of medical genetics.

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

P. Kellman, P. Elliott, J. Moon, 2021, Journal of the American Heart Association.

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

P. Lambiase, G. Carr-White, V. Plagnol, 2016, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes

V. Acquaah, R. McGowan, P. Syrris, 2021, Journal of Medical Genetics.

Integrin α7 Mutations Are Associated With Adult‐Onset Cardiac Dysfunction in Humans and Mice

H. Houlden, P. Syrris, B. Küsters, 2022, Journal of the American Heart Association.

Common arterial trunk associated with a homeodomain mutation of NKX2.6.

P. Scambler, M. Patton, P. Syrris, 2005, Human molecular genetics.

Mutational Heterogeneity, Modifier Genes, and Environmental Influences Contribute to Phenotypic Diversity of Arrhythmogenic Cardiomyopathy

J. Chambers, P. Syrris, G. Quarta, 2010, Circulation. Cardiovascular genetics.

Genetics of restrictive cardiomyopathy.

P. Syrris, W. McKenna, S. Sen‐Chowdhry, 2010, Heart failure clinics.

R. Hauer, H. Calkins, E. Behr, 2021, Circulation. Genomic and precision medicine.

Dynamic Conduction and Repolarisation Changes in Early Arrhythmogenic Right Ventricular Cardiomyopathy versus Benign Outflow Tract Ectopy Demonstrated by High Density Mapping & Paced Surface ECG Analysis

Antonis Pantazis, Edward J. Ciaccio, Oliver R. Segal, 2014, PloS one.

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

K. Lakhoo, S. Bhattacharya, P. Syrris, 2001, Journal of medical genetics.

Genotype Cardiomyopathy Revisited: Comparison With Task Force Criteria and Cardiovascular Magnetic Resonance in Arrhythmogenic Right Ventricular

D. Pennell, D. Firmin, R. Merrifield, 2011 .

Preliminary results of the molecular diagnosis of familial adenomatous polyposis in Cuban families

P. Syrris, R. Guerra, Elsa García, 2002, International Journal of Colorectal Disease.

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature.

Unlocking Predictive Power: A Machine Learning Tool Derived from In-Depth Analysis to Forecast the Impact of Missense Variants in Human Filamin C

O. Carugo, M. Gautel, K. Djinović-Carugo, 2023, bioRxiv.

A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients

L. Mestroni, M. P. van den Berg, D. Judge, 2023, Journal of cardiovascular translational research.

Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy.

V. Plagnol, P. Elliott, P. Syrris, 2015, European journal of medical genetics.

Structure determination and analysis of titin A-band fibronectin type III domains provides insights for disease-linked variants and protein oligomerisation

M. Gautel, P. Syrris, M. Pfuhl, 2023, Journal of structural biology.

Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database

P. Syrris, C. Dalageorgou, W. McKenna, 2018, European Journal of Human Genetics.

P. Lambiase, A. Chow, P. Syrris, 2014, PloS one.

Letter regarding article by Norman et al, "Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy" - Response

M. Simpson, J. Mogensen, P. Syrris, 2006 .

Left Dominant Arrhythmogenic Cardiomyopathy Caused by a Novel Nonsense Mutation in Desmoplakin | Miocardiopatía arritmogénica con afectación predominante del ventrículo izquierdo por una mutación nueva «sin sentido» en desmoplaquina

P. Syrris, A. Salvador, E. Zorio, 2011 .

Genetics of cardiomyopathies: novel perspectives with next generation sequencing.

L. Monserrat, A. Castro‐Beiras, P. Syrris, 2014, Current pharmaceutical design.

Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations

J. Saffitz, C. Stefanadis, E. Ehler, 2010, Cardiovascular research.

Atlas of the clinical genetics of human dilated cardiomyopathy.

Karen S. Frese, R. Bellazzi, M. Bolognesi, 2014, European heart journal.

Prevalence of Sequence Variants in the RAS-Mitogen Activated Protein Kinase Signaling Pathway in Pre-Adolescent Children With Hypertrophic Cardiomyopathy

P. Hammond, A. Shaw, M. Ashworth, 2012, Circulation. Cardiovascular genetics.

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

M. Sheppard, G. Carr-White, P. Elliott, 2010, Circulation. Cardiovascular genetics.

Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.

P. Schwartz, G. Parati, P. Syrris, 2017, International journal of cardiology.

P. Syrris, A. Salvador, E. Zorio, 2011 .

Clinical Significance of Epsilon Waves in Arrhythmogenic Cardiomyopathy

P. Syrris, D. Tousoulis, W. McKenna, 2015, Journal of cardiovascular electrophysiology.

STRATEGIES FOR THE EXTENSION OF HUMAN LIFE SPAN

P. Syrris, A. Hipkiss, M. Dreimanis, 1995 .

Erratum: Hypertrophic cardiomyopathy: The genetic determinants of clinical disease expression (Nature Clinical Cardiovascular Medicine (2008) vol. 5 (159-168) (10.1038/ncpcardio1110)

A. Keren, P. Syrris, W. McKenna, 2008 .

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature Communications.

Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants

Thomas A. Slater, L. Mestroni, D. Fatkin, 2023, Circulation. Genomic and precision medicine.

Methylenetetrahydrofolate reductase polymorphism (C-677T) and coronary artery disease.

J. Kaski, D. Crossman, P. Syrris, 1998, Clinical science.

Systolic anterior motion of the anterior mitral valve leaflet begins in subclinical hypertrophic cardiomyopathy

J. Moon, G. Captur, P. Syrris, 2023, European heart journal. Cardiovascular Imaging.

NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases.

P. Syrris, M. Silengo, N. Carter, 2008, Genetic testing.

Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci.

M. Lathrop, P. Syrris, J. Capeau, 2002, Diabetes.