Genomic medicine for kidney disease

EE Groopman, HM Rasouly, AG Gharavi - Nature Reviews Nephrology, 2018 - nature.com
Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …

[HTML][HTML] 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest …

MK Stiles, AAM Wilde, DJ Abrams, MJ Ackerman… - Heart rhythm, 2021 - Elsevier
This international multidisciplinary document intends to provide clinicians with evidence-
based practical patient-centered recommendations for evaluating patients and decedents …

Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review

S van Pottelberghe, N Kupper, E Scheirlynck… - European journal of …, 2024 - nature.com
Patient-reported outcome measures (PROMs) are used to facilitate patient-centered care
(PCC). While studies in patients with cardiac conditions have revealed poorer health-related …

[HTML][HTML] Psychological adaptation to molecular autopsy findings following sudden cardiac death in the young

K Bates, J Sweeting, L Yeates, K McDonald… - Genetics in …, 2019 - Elsevier
Purpose Sudden cardiac death (SCD) in the young is a devastating event occurring in
otherwise healthy individuals. Postmortem genetic testing (molecular autopsy) may help …

Communication of genetic information to families with inherited rhythm disorders

C Burns, C James, J Ingles - Heart Rhythm, 2018 - Elsevier
Given the dynamic nature of the electrical activity of the heart and ongoing challenges in the
diagnostics of inherited heart rhythm disorders, genetic information can be a vital aspect of …

Evaluation of clinical practices related to variants of uncertain significance results in inherited cardiac arrhythmia and inherited cardiomyopathy genes

RD Muller, T McDonald, K Pope… - Circulation: Genomic and …, 2020 - Am Heart Assoc
Background: Increasing use of genetic tests have identified many variants of uncertain
significance (VUS) in genes associated with inherited arrhythmias and cardiomyopathies …

A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America

AF Rickman, SM Fitzgerald‐Butt… - Journal of Genetic …, 2023 - Wiley Online Library
Cardiovascular genetic counseling has expanded as an established genetic counseling
specialty over the last 20 years. Despite guidelines recommending genetic counseling for …

Perceived self-efficacy and empowerment in patients at increased risk of sudden cardiac arrest

B Davies, KS Allan, SL Carroll, K Gibbs… - Frontiers in …, 2023 - frontiersin.org
Background The role of multidisciplinary clinics for psychosocial care is increasingly
recognized for those living with inherited cardiac conditions (ICC). In Canada, access to …

Single nucleotide polymorphism-based biomarker in primary hypertension

P Golmei, S Srivastava, S Kumar - European Journal of Pharmacology, 2024 - Elsevier
Primary hypertension is a multiplex and multifactorial disease influenced by various strong
components including genetics. Extensive research such as Genome-wide association …

Managing secondary genomic findings associated with arrhythmogenic right ventricular cardiomyopathy: case studies and proposal for clinical surveillance

CM Haggerty, B Murray, C Tichnell… - Circulation: Genomic …, 2018 - Am Heart Assoc
To that end, this article presents the existing knowledge enabling a genome-first approach to
ARVC and describes the major challenges. We also present findings for some of the first …