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Acknowledgment to the Reviewers of Cardiogenetics in 2022

JOURNAL ARTICLE published 17 January 2023 in Cardiogenetics

Authors: Cardiogenetics Editorial Office Cardiogenetics Editorial Office

Cardiac Imaging in RASopathies/Mitogen Activated Protein Kinase Syndromes

JOURNAL ARTICLE published 9 July 2014 in Cardiogenetics

Authors: Rita Gravino | Giuseppe Pacileo

Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference

JOURNAL ARTICLE published 25 February 2022 in Cardiogenetics

Authors: Marta Rubino | Emanuele Monda | Martina Caiazza | Giuseppe Palmiero | Michele Lioncino | Annapaola Cirillo | Adelaide Fusco | Federica Verrillo | Alessia Perna | Gaetano Diana | Federica Amodio | Arturo Cesaro | Giovanni Duro | Berardo Sarubbi | Maria Giovanna Russo | Paolo Calabrò | Giuseppe Limongelli

Restrictive Cardiomyopathy and Hypertrophic Cardiomyopathy Overlap: The Importance of the Phenotype

JOURNAL ARTICLE published 19 October 2012 in Cardiogenetics

Authors: Juan Pablo Kaski | Elena Biagini | Massimo Lorenzini | Claudio Rapezzi | Perry Elliott

Left Ventricular Non-Compaction Spectrum in Adults and Children: From a Morphological Trait to a Structural Muscular Disease

JOURNAL ARTICLE published 1 April 2022 in Cardiogenetics

Authors: Flavia Fusco | Nunzia Borrelli | Rosaria Barracano | Giovanni Domenico Ciriello | Federica Verrillo | Giancarlo Scognamiglio | Berardo Sarubbi

Transthyretin Gene Variants and Associated Phenotypes in Danish Patients with Amyloid Cardiomyopathy

JOURNAL ARTICLE published 4 January 2022 in Cardiogenetics

Authors: Torsten B. Rasmussen | Bertil T. Ladefoged | Anne M. Dybro | Tor S. Clemmensen | Rikke H. Sørensen | Astrid J. Terkelsen | Henning Mølgaard | Henrik Vase | Steen H. Poulsen

Analysis of ABC Transporter Gene Expression in Atherosclerosis

JOURNAL ARTICLE published 4 November 2021 in Cardiogenetics

Authors: Stanislav Kotlyarov | Anna Kotlyarova

Long QT Syndrome: From Genetic Basis to Treatment

JOURNAL ARTICLE published 20 November 2011 in Cardiogenetics

Authors: Lia Crotti | Federica Dagradi | Peter J. Schwartz

Atrioventricular Canal Defect and Associated Genetic Disorders: New Insights into Polydactyly Syndromes

JOURNAL ARTICLE published 26 July 2011 in Cardiogenetics

Authors: M. Cristina Digilio | Paolo Versacci | Francesca Lepri | Anwar Baban | Bruno Dallapiccola | Bruno Marino

GMDS Intragenic Deletions Associate with Congenital Heart Disease including Ebstein Anomaly

JOURNAL ARTICLE published 6 July 2023 in Cardiogenetics

Authors: Shirley Lo-A-Njoe | Eline Verberne | Lars van der Veken | Eric Arends | J. van Tintelen | Alex Postma | Mieke van Haelst

Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation

JOURNAL ARTICLE published 7 February 2022 in Cardiogenetics

Research funded by Ministero della Salute (RC 2001CA08)

Authors: Angela Maggio | Sandra Mastroianno | Giuseppe Di Stolfo | Stefano Castellana | Pietro Palumbo | Maria Pia Leone | Anita Spirito | Domenico Rosario Potenza | Saverio Ladogana | Marco Castori | Massimo Carella | Massimo Villella | Mauro Pellegrino Salvatori

Assessment of Disease-Associated Missense Variants in RYR2 on Transcript Splicing

JOURNAL ARTICLE published 1 June 2020 in Cardiogenetics

Authors: Damilola Olubando | Huw Thomas | Minoru Horie | Raymond O’Keefe | Luigi Venetucci | William Newman

Understanding the Function of a Locus Using the Knowledge Available at Single-Nucleotide Polymorphisms

JOURNAL ARTICLE published 7 December 2021 in Cardiogenetics

Research funded by Canadian Institutes of Health Research (FDN-154308)

Authors: Majid Nikpay | Sepehr Ravati | Robert Dent | Ruth McPherson

Genetic Testing for Hypertrophic Cardiomyopathy: Ongoing Voyage from Exploration to Clinical Exploitation

JOURNAL ARTICLE published 5 July 2011 in Cardiogenetics

Authors: Iacopo Olivotto | Heba Sh. Kassem | Francesca Girolami

Mutations in Hotspot Region of MYH7 Gene Exon 23 Associated with Restrictive Cardiomyopathy

JOURNAL ARTICLE published 2 May 2017 in Cardiogenetics

Authors: Mitali Kapoor | Soumi Das | Amitabh Biswas | Sandeep Seth | Balram Bhargava | Vadlamudi Raghavendra Rao

Clinical Mass Spectrometry in Heart Disease

JOURNAL ARTICLE published 5 November 2015 in Cardiogenetics

Authors: Liam Heaney | Toru Suzuki

Specific Deletion of the FHA Domain Containing SLMAP3 Isoform in Postnatal Myocardium Has No Impact on Structure or Function

JOURNAL ARTICLE published 4 October 2021 in Cardiogenetics

Research funded by Canadian Institutes of Health Research (220996-151999)

Authors: Taha Rehmani | Jana Mlynarova | Joseph Byers | Maysoon Salih | Balwant S. Tuana

Identification of Single-Nucleotide Polymorphisms in ZNF469 in a Patient with Aortoiliac Aneurysmal Disease

JOURNAL ARTICLE published 28 June 2022 in Cardiogenetics

Authors: Adam Wolf | Faria Khimani | Mohanakrishnan Sathyamoorthy

Clinical and Molecular Characteristics of Patients with PLN R14del Cardiomyopathy: State-of-the-Art Review

JOURNAL ARTICLE published 2 March 2022 in Cardiogenetics

Authors: Emanuele Monda | Ettore Blasi | Antonio De Pasquale | Alessandro Di Vilio | Federica Amodio | Martina Caiazza | Gaetano Diana | Michele Lioncino | Alessia Perna | Federica Verrillo | Maria Luigia Martucci | Orlando Munciguerra | Andrea Vergara | Giuseppe Limongelli

Diagnosis and Management of Lysosomal Storage Disorders. Three Key Words: Early, Multidisciplinary, and Network

JOURNAL ARTICLE published 27 February 2013 in Cardiogenetics

Authors: Generoso Andria | Giuseppe Limongelli