Ashley Parrott
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View article: Impact of Genetic Testing for Cardiomyopathy on Emotional Well-Being and Family Dynamics: A Study of Parents and Adolescents
Impact of Genetic Testing for Cardiomyopathy on Emotional Well-Being and Family Dynamics: A Study of Parents and Adolescents Open
Background: Genetic testing is indicated for children with a personal or family history of hereditary cardiomyopathy to determine appropriate management and inform risk stratification for family members. The implications of a positive gene…
View article: Aortopathy in the 7q11.23 microduplication syndrome
Aortopathy in the 7q11.23 microduplication syndrome Open
The 7q11.23 microduplication syndrome, caused by the reciprocal duplication of the Williams-Beuren syndrome deletion region, is a genomic disorder with an emerging clinical phenotype. Dysmorphic features, congenital anomalies, hypotonia, d…
View article: A novel variant in KCNQ1 associated with short QT syndrome
A novel variant in KCNQ1 associated with short QT syndrome Open
View article: A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy
A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy Open
View article: Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Open
View article: Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment
Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment Open
View article: Genetic Testing in Pediatric Left Ventricular Noncompaction
Genetic Testing in Pediatric Left Ventricular Noncompaction Open
Background— Left ventricular noncompaction (LVNC) can occur in isolation or can co-occur with a cardiomyopathy phenotype or cardiovascular malformation. The yield of cardiomyopathy gene panel testing in infants, children, and adolescents w…
View article: Persistent Left Superior Vena Cava: An Overlooked Feature of CHARGE Syndrome?
Persistent Left Superior Vena Cava: An Overlooked Feature of CHARGE Syndrome? Open
CHARGE is a well-characterized syndrome (OMIM 2148400) associated with multiple congenital anomalies including cardiovascular malformations. Mutations in CHD7 are the most common cause of CHARGE syndrome. Persistent left superior vena cava…
View article: Aortopathy in the 7q11.23 microduplication syndrome
Aortopathy in the 7q11.23 microduplication syndrome Open
The 7q11.23 microduplication syndrome, caused by the reciprocal duplication of the Williams-Beuren syndrome deletion region, is a genomic disorder with an emerging clinical phenotype. Dysmorphic features, congenital anomalies, hypotonia, d…