Last Updated: 09/26/2026
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Found 25 publications
Using team-based precision medicine to advance understanding of rare genetic brain disorders.
Journal: Journal of neurodevelopmental disorders
Published: October 06, 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
Caregiver-reported characteristics of children diagnosed with pathogenic variants in KDM5C.
Journal: American journal of medical genetics. Part A
Published: November 18, 2020
Phenotypic variations in carriers of predicted protein-truncating genetic variants in MYBPC3: an autopsy-based case series.
Journal: Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
Published: August 17, 2018
Hyperlipidemia secondary to acitretin therapy for lamellar ichthyosis associated with a NIPAL4 mutation improves on a plant-based diet and relapses on a standard Western diet.
Journal: Clinical nutrition ESPEN
Published: October 23, 2017
Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.
Journal: PloS one
Published: January 27, 2015
Psychological stress associated with cardiogenetic conditions.
Journal: Personalized medicine
Published: November 29, 2014
Last Updated: 09/26/2026