The genetic architecture of long QT syndrome: a critical reappraisal

JR Giudicessi, AAM Wilde, MJ Ackerman - Trends in cardiovascular …, 2018 - Elsevier
Collectively, the completion of the Human Genome Project and subsequent development of
high-throughput next-generation sequencing methodologies have revolutionized genomic …

Cardiovascular precision medicine in the genomics era

AM Dainis, EA Ashley - JACC: Basic to Translational Science, 2018 - jacc.org
Precision medicine strives to delineate disease using multiple data sources—from genomics
to digital health metrics—in order to be more precise and accurate in our diagnoses …

Classification and reporting of potentially proarrhythmic common genetic variation in long QT syndrome genetic testing

JR Giudicessi, DM Roden, AAM Wilde, MJ Ackerman - Circulation, 2018 - Am Heart Assoc
The acquired and congenital forms of long QT syndrome represent 2 distinct but clinically
and genetically intertwined disorders of cardiac repolarization characterized by the shared …

Cardiovascular safety of prokinetic agents: a focus on drug‐induced arrhythmias

JR Giudicessi, MJ Ackerman… - Neurogastroenterology …, 2018 - Wiley Online Library
Background Gastrointestinal sensorimotor dysfunction underlies a wide range of
esophageal, gastric, and intestinal motility and functional disorders that collectively …

Chemical-induced cardiac reprogramming in vivo

C Huang, W Tu, Y Fu, J Wang, X Xie - Cell research, 2018 - nature.com
Dear Editor, Loss or dysfunction of cardiomyocytes lead to heart failure which is a leading
cause of death worldwide. 1 It is widely known that the hearts of adult mammals have a very …

Why epigenetics is (not) a biosocial science and why that matters

L Chiapperino, F Paneni - Clinical Epigenetics, 2022 - Springer
Epigenetic modifications offer compelling evidence of the environmental etiology of complex
diseases. Social and biographical conditions, as well as material exposures, all modulate …

Deciphering pathogenicity of variants of uncertain significance with CRISPR-edited iPSCs

H Guo, L Liu, M Nishiga, L Cong, JC Wu - Trends in Genetics, 2021 - cell.com
Genetic variants play an important role in conferring risk for cardiovascular diseases (CVDs).
With the rapid development of next-generation sequencing (NGS), thousands of genetic …

Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance

JR Giudicessi, KVV Lieve, RK Rohatgi… - Circulation: Genomic …, 2019 - Am Heart Assoc
Background Many rare, potentially pathogenic, RYR2 variants identified in individuals with
clinically definite catecholaminergic polymorphic ventricular tachycardia are classified …

Application of single-nucleotide polymorphism-related risk estimates in identification of increased genetic susceptibility to cardiovascular diseases: a literature review

S Fiatal, R Adany - Frontiers in public health, 2018 - frontiersin.org
Background Although largely preventable, cardiovascular diseases (CVDs) are the biggest
cause of death worldwide. Common complex cardiovascular disorders (eg, coronary heart …

The impact of cardiovascular genetic counseling on patient empowerment

HE Ison, SM Ware, TH Schwantes‐An… - Journal of genetic …, 2019 - Wiley Online Library
Cardiovascular genetic counseling (CVGC) is recommended for a variety of inherited heart
conditions; however, its impact on patient empowerment has not been assessed. The …