Genomic medicine for kidney disease
Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …
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 …
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 …
(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 …
otherwise healthy individuals. Postmortem genetic testing (molecular autopsy) may help …
Communication of genetic information to families with inherited rhythm disorders
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 …
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 …
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 …
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
Background The role of multidisciplinary clinics for psychosocial care is increasingly
recognized for those living with inherited cardiac conditions (ICC). In Canada, access to …
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 …
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 …
ARVC and describes the major challenges. We also present findings for some of the first …