Explanipedia

Empowerment of parents of infants with congenital heart disease after rapid genome sequencing Open

Richard Cheney, Gabrielle C. Geddes, Sara Fitzgerald‐Butt · 2025

Identification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease Open

Jacqueline S. Penaloza, Blythe Moreland, Jeff Gaither, Benjamin J. Landis, Stephanie M. Ware , et al. · 2025

Background Copy number variants (CNVs) contribute to 3% to 10% of isolated congenital heart disease (CHD) cases, yet their pathogenic roles remain unclear. Diagnostic efforts have focused on protein‐coding genes, largely overlooking long n…

P468: A case of developmental and epileptic encephalopathies without epilepsy Open

R G Hart, Laura Oehlman, Gabrielle C. Geddes, E. Grau Garcia · 2025

Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing Open

Benjamin M. Helm, Lindsey R. Helvaty, Erin Conboy, Gabrielle C. Geddes, Brett H. Graham , et al. · 2024

Background Dysmorphology evaluation is important for congenital heart disease (CHD) assessment, but there are no prior investigations quantifying the screening performance compared to standardized genetics evaluations. We investigated this…

Early ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery Open

Benjamin J. Landis, Benjamin M. Helm, Matthew D. Durbin, Lindsey R. Helvaty, Jeremy L. Herrmann , et al. · 2024

Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy Open

Mahati Pidaparti, Gabrielle C. Geddes, Matthew D. Durbin · 2024

Congenital heart disease (CHD) and cardiomyopathies are the leading cause of morbidity and mortality worldwide. These conditions are often caused by genetic factors, and recent research has shown that genetic and genomic testing can provid…

Rapid Genome Sequencing Shows Diagnostic Utility In Infants With Congenital Heart Defects Open

Matthew D. Durbin, Lindsey R. Helvaty, Alyx Posorske, Samuel Zhang, Manyan Huang , et al. · 2024

Congenital heart disease (CHD) is the most common birth defect and a leading cause of infant mortality. CHD often has a genetic etiology and recent studies demonstrate utility in genetic testing. In clinical practice, decisions around gene…

A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease Open

Benjamin J. Landis, Lindsey R. Helvaty, Gabrielle C. Geddes, Jiuann‐Huey Lin, Svetlana A. Yatsenko , et al. · 2023

Background Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for describing cardiac phenotypes in patients with CMA abnormalities have been inconsisten…

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return Open

Emily A. Huth, Xiaonan Zhao, Nichole Owen, Pamela N. Luna, Ida Vogel , et al. · 2023

Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects Open

Matthew D. Durbin, Korre Fairman, Lindsey R. Helvaty, Manyan Huang, Ming Li , et al. · 2023

P171: Yield of different genomic testing approaches in infants with congenital heart disease Open

Gabrielle C. Geddes, Erin Conboy, Sara Fitzgerald‐Butt, Benjamin M. Helm, E. Grau Garcia , et al. · 2023

P170: Rapid genome provides unexpected, highly actionable answer for critically ill patient Open

Gabrielle C. Geddes, Brett H. Graham, Riad Lutfi, Sarah Adjepomaa Ackah, Hongzheng Dai , et al. · 2023

A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices Open

Matthew D. Durbin, Lindsey R. Helvaty, Ming Li, William L. Border, Sara Fitzgerald‐Butt , et al. · 2023

Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease Open

Benjamin J. Landis, Benjamin M. Helm, Jeremy L. Herrmann, Madeline Hoover, Matthew D. Durbin , et al. · 2022

Background Our cardiac center established a systematic approach for inpatient cardiovascular genetics evaluations of infants with congenital heart disease, including routine chromosomal microarray (CMA) testing. This provides a new opportu…

A multi-disciplinary, comprehensive approach to management of children with heterotaxy Open

Thomas G. Saba, Gabrielle C. Geddes, Stephanie M. Ware, David Schidlow, Pedro J. del Nido , et al. · 2022

Misdiagnosis of trisomy 13 and trisomy 18 is more common than anticipated Open

Gabrielle C. Geddes, Niloufar Hafezi, Brian W. Gray · 2022

Common trisomies such as trisomy 13 (T13) and trisomy 18 (T18) have been of increased interest in regards to prognosis and outcomes with multiple recent large studies suggesting patients do better than historically thought, even with major…

OBGYN providers’ lack of knowledge and management of genetic risks due to advanced paternal age underscore the need for updated practice guidance Open

Joseph F. Biddle, Leah Wetherill, Gabrielle C. Geddes, Kayla Quirin, Caroline E. Rouse , et al. · 2022

eP130: Infantile hypertrophic cardiomyopathy due to HRAS related Costello syndrome responsive to trametinib: Outcomes after 2 years Open

Gabrielle C. Geddes, Stephanie M. Ware, Sabena Hussain, John J. Parent · 2022

Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect Open

Marisa W. Friederich, Gabrielle C. Geddes, Saskia B. Wortmann, Ann R. Punnoose, Eric P. Wartchow , et al. · 2021

Variants of significance: medical genetics and surgical outcomes in congenital heart disease Open

Gabrielle C. Geddes, Leon F. Przybylowski, Stephanie M. Ware · 2020

Purpose of review This article reviews the current understanding and limitations in knowledge of the effect genetics and genetic diagnoses have on perioperative and postoperative surgical outcomes in patients with congenital heart disease …

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Sai Suma K. Samudrala, Lauren M. North, Karl Stamm, Michael G. Earing, Michele A. Frommelt , et al. · 2020

Novel <i>KLHL26</i> variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction Open

Sai Suma K. Samudrala, Lauren M. North, Karl Stamm, Michael G. Earing, Michele A. Frommelt , et al. · 2020

Background Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac s…

Language regression, hemichorea and focal subclinical seizures in a 6-year-old girl with GLUT-1 deficiency Open

Alexandra M. Wood, Gabrielle C. Geddes, Ahmad Marashly · 2019

Three year experience of a clinical cardiovascular genetics program for infants with congenital heart disease Open

Gabrielle C. Geddes, Erin Syverson, Michael G. Earing · 2019

An inpatient cardiogenetics program significantly increases the diagnostic rate, the detection of complex phenotypes with dual diagnoses, the identification of incidental genetic diagnoses associated with changes in care, and significantly…

A case of Coffin–Siris syndrome with severe congenital heart disease and a novel <i>SMARCA4</i> variant Open

Nikita R. Dsouza, Michael T. Zimmermann, Gabrielle C. Geddes · 2019

Coffin–Siris syndrome (CSS) is a developmental disability, caused by genomic variants in the gene SMARCA4 , in addition to other known genes, but the full spectrum of SMARCA4 variants that can cause CSS is unknown with 40% of cases not hav…

Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy Open

Jeffrey Schubert, Muhammad Tariq, Gabrielle C. Geddes, Steven J. Kindel, Erin M. Miller , et al. · 2018

Restrictive cardiomyopathy (RCM) is a rare and distinct form of cardiomyopathy characterized by normal ventricular chamber dimensions, normal myocardial wall thickness, and preserved systolic function. The abnormal myocardium, however, dem…

Genetic evaluation of patients with congenital heart disease Open

Gabrielle C. Geddes, Michael G. Earing · 2018

Purpose of review The aim of this study is to review genetics of congenital heart disease (CHD) with a focus on clinical applications, genetic testing and clinical challenges. Recent findings With improved clinical care, there is a rapidly…

Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy Open

Jesa L. Landis, Holly Hyland, Steven J. Kindel, Ann R. Punnoose, Gabrielle C. Geddes · 2018

Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier Open

Gabrielle C. Geddes, Donald Basel, Dana Schippman, John W. Grignon, Peter vanTuinen , et al. · 2017

We report a 4-month-old male proband with a history of prominent forehead, hypertelorism, ear abnormalities, micrognathia, hypospadias, and multiple cardiac abnormalities. Initial microarray analysis detected a concurrent 7p21.3-p22.3 dupl…

Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease Open

Gabrielle C. Geddes, Donald Basel, Peter C. Frommelt, Aaron Kinney, Michael G. Earing · 2017

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