Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 41 publications
A highly penetrant LMNA R541C variant associated with dilated cardiomyopathy leads to dysregulation in metabolism and proliferation pathways in stem cell-derived cardiomyocytes.
Journal: bioRxiv : the preprint server for biology
Published: August 01, 2026
Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research.
Journal: American journal of human genetics
Published: April 18, 2024
Hypertrophic cardiomyopathy and long QT syndrome in cardiac-only Timothy syndrome.
Journal: HeartRhythm case reports
Published: August 24, 2023
Genetic screening of relatives of decedents experiencing sudden unexpected death: medical examiner's office referrals to a multi-disciplinary cardiogenetics program.
Journal: Journal of community genetics
Published: July 07, 2022
Corrigendum: Phenotypic variability in iPSC-induced cardiomyocytes and cardiac fibroblasts carrying diverse LMNA mutations.
Journal: Frontiers in physiology
Published: June 20, 2022
Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC-neurons and cardiomyocytes.
Journal: Molecular genetics & genomic medicine
Published: June 18, 2022
The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing.
Journal: Pilot and feasibility studies
Published: October 18, 2021
Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations.
Journal: Frontiers in physiology
Published: September 17, 2021
The dynamin-related protein 1 is decreased and the mitochondrial network is altered in Friedreich's ataxia cardiomyopathy.
Journal: The international journal of biochemistry & cell biology
Published: August 16, 2021
Establishment of an arrhythmogenic right ventricular cardiomyopathy derived iPSC cell line (USFi004-A) carrying a heterozygous mutation in PKP2 (c.1799delA).
Journal: Stem cell research
Published: May 04, 2021
Generation of a Friedreich's Ataxia patient-derived iPSC line USFi001-A.
Journal: Stem cell research
Published: April 26, 2021
Generation of an iPSC cell line (USFi003-A) from a patient with dilated cardiomyopathy carrying a heterozygous mutation in LMNA (p.R541C).
Journal: Stem cell research
Published: April 22, 2021
Last Updated: 09/26/2026