A5077366483- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
- Cellular transport and secretion
- Lysosomal Storage Disorders Research
- Ion channel regulation and function
- Autophagy in Disease and Therapy
- Cancer-related gene regulation
- Cardiac electrophysiology and arrhythmias
- Cardiomyopathy and Myosin Studies
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Cancer Genomics and Diagnostics
- RNA and protein synthesis mechanisms
- Endoplasmic Reticulum Stress and Disease
- Retinal Development and Disorders
- GDF15 and Related Biomarkers
- Cardiac tumors and thrombi
- Nuclear Structure and Function
- Genomics and Phylogenetic Studies
- Genetic Neurodegenerative Diseases
- Ubiquitin and proteasome pathways
- Adolescent and Pediatric Healthcare
- CRISPR and Genetic Engineering
- Childhood Cancer Survivors' Quality of Life
Stanford University
2020-2024
University of California System
2022
Stanford Medicine
2020-2021
Abstract Background Variants in TTN are frequently identified the genetic evaluation of skeletal myopathy or cardiomyopathy. However, due to high frequency variants general population, incomplete penetrance, and limited understanding spectrum disease, interpretation is often difficult for laboratories clinicians. Currently, cardiomyopathy associated with heterozygous A‐band variants, whereas largely homozygous compound variants. Recent reports show pathogenic may result a broader phenotypic...
Abstract The concept of patient engagement has been widely studied for decades in the fields medicine, nursing, psychology, social science, public health, and policy, increased levels have shown to improve health outcomes strengthen reported experiences care. Despite this, little research done evaluate what looks like within context a genetic counseling session. Additionally, there is limited literature from researchers based United States that aims better understand non‐English‐speaking...
Introduction: LMNA cardiomyopathy is characterized by a high incidence of atrial fibrillation (AF) and an increased risk for AF-related stroke. AF commonly occurs before apparent cardiomyopathy, the ability to predict its in asymptomatic mutation carriers limited. We sought evaluate presence echocardiographic features specific whether they incidence. Methods: Patients harboring mutations (n=77) from two referrals centers between 2000 2017 were retrospectively included. Comparator groups...