Publications
71
Citations
737
Est. group size
~1
Recurring co-author estimate
Active years
55
Publishing since 1972
Gabrielle C. Geddes studies the genetic causes of heart conditions present at birth (congenital heart disease) and related inherited disorders such as cardiomyopathies (diseases of the heart muscle) and rare metabolic conditions. The work combines clinical genetic testing, genome sequencing, and studies of how families experience and use genetic information. A recurring focus is building practical genetic evaluation programs and testing protocols for infants with heart defects.
Publication activity has been steady over the past decade, averaging around six papers per year with a modest peak in 2022-2023.
Generated by claude-opus-4-8 from public bibliographic data · Jul 11, 2026
- P246: An expanded sociotechnical model framework for clinical utility of informatic tools for genomic data
Genetics in Medicine Open · 2026
- P240: Burden of ciliopathy variants in single ventricle physiology heterotaxy patients
Genetics in Medicine Open · 2026
- Empowerment of parents of infants with congenital heart disease after rapid genome sequencing
Journal of Community Genetics · 2025
- Genetic Evaluation Practices for Neonates with Congenital Heart Disease in Pediatric Cardiac Intensive Care Units: Findings from a Multi-institutional Survey
Pediatric Cardiology · 2025
- Hypertrophic Cardiomyopathy in Infantile-Onset Pompe Disease Treated with Enzyme Replacement Therapy
2021
- Hypertrophic Cardiomyopathy in Infantile-Onset Pompe Disease Treated with Enzyme Replacement Therapy
PEDIATRICS · 2021
- Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect
Molecular Genetics and Metabolism · 2021
- A Case of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins (ACD/MPV): The Importance of Early Genetic Testing
Journal of Neonatology · 2021
- Novel <i>KLHL26</i> variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction
Molecular Genetics & Genomic Medicine · 2020
- Cover
Molecular Genetics & Genomic Medicine · 2020
- Neonatal Assessment of Infants with Heterotaxy
Clinics in Perinatology · 2019
- Three year experience of a clinical cardiovascular genetics program for infants with congenital heart disease
Congenital Heart Disease · 2019
- Language regression, hemichorea and focal subclinical seizures in a 6-year-old girl with GLUT-1 deficiency
Epilepsy & Behavior Reports · 2019
- Microcephalic Newborn with Forehead Nevus Flammeus, Bulging Eyes, and Clenched Fists
NeoReviews · 2019
- A Novel <i>MYH6</i> <sup>E1503V</sup> Variant in a Family with a History of Heart Disease, including Hypoplastic Left Heart Syndrome
The FASEB Journal · 2019
- Genetics in Medicine Open×6
- Genetics in Medicine×4
- Congenital Heart Disease×3
- Journal of the American Heart Association×3
- Molecular Genetics & Genomic Medicine×3
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 11, 2026.
Claim or correct this profile