Submission of Ancillary Study Proposals

The PCGC invites proposals to conduct ancillary studies that advance the field of pediatric cardiac genomics and would benefit from access to the CHD GENES patient cohort, phenotype and genotype data, and/or biospecimens collected by the PCGC. For more information, please review the Ancillary Study Policy and Procedures, as well as the Application Form. Questions may be directed to the PCGC Steering Committee Chair, or NHLBI Project Scientist.

PCGC Ancillary Study Policy and Procedures

Policy for Small Data Requests to PCGC

PCGC Data and Biospecimen Sharing Policies and Procedures

Ancillary Studies Form

Approved Ancillary Studies

Principal InvestigatorStudy Name
Maximilian Muenke, MD
Karin Weiss, PhD
Evaluation of the clinical spectrum and molecular basis of syndromic intellectual disability caused by mutations in CHD4
Tracy Young-Pearse, PhDMolecular analyses of POGZ mutation in human neural cells
Thomas A. Miller, MDAdapting Bioinformatic Tools to Uncover Genomic Modifiers of Clinical Outcomes in Congenital Heart Disease
Mark W. Russell, MDEvaluation of novel candidate genes for conotruncal heart defects
Elizabeth Goldmuntz, MDMaternal Genetic Risk Factors for CHD
Andrew Sharp, MDEpigenetic Profiling in Multiple Congenital Anomalies Syndromes
Sophie Astrof, PhDMutations in Fibronectin and its Receptors in Patients with Arch Artery Defects and Heterotaxy
Kyu-Ho Lee, MD, PhDContribution of Nkx2.5 Regulatory Region Polymoorphisms to Congenital Heart Disease
Yufeng Shen, PhDMethods for Identification of Candidate Functional Variants from High-Throughput Sequencing Data in Genetics
Jonathan Seidman, MDAnalysis of CHD Sequence Variants by High Throughput Murine Transgenesis
James Priest, MDComplete Genotyping of Patients with Atrioventricular Septal Defects
Mustafa Khokha, MDFunctional Assays to Screen Genomic Hits
Laura Mercer-Rosa, MDInfluence of Genotype on Outcomes in Tetralogy of Fallot
Jonathan Epstein, MDSEMA3D Mutations and Anomalous Pulmonary Veins
Paul Kruska, MD
Maximilian Muenke, MD
The Genetic Basis of Ectopia Cordis
Roger Reeves, PhD
Stephanie Sherman, PhD
Genetic Modifiers of Congenital Heart Disease in a Sensitized Population
Paul Grossfeld, MDFunctional Characterization of iPS Cell-Derived Neural Crest Cells from a Patient with Congenital Heart Disease, Dysmorphic Features and an ETS-1 Frameshift Mutation
Laura E. Mitchell, PhDMaternal Effect Genes as Risk Factors for Congenital Heart Defects
Ryan Urbanowicz, PhDBiomedical Informatic Strategies for Modeling Genetic Heterogeneity in Complex Traits
Nobuyuki Ishibashi, MD
Kazue Hashimoto-Torii, PhD
Combinatorial effects of neonatal anesthesia and primary cilia deficits on neurobehavior outcomes in CHD
Tuuli Lappalainen, PhDRegulatory genetic variants in congenital heart disease risk
Elise Robinson, ScDThe role of de novo variants in the association between advanced paternal age and disease
Stephanie Sherman, PhDGenetic modifiers of Congenital Heart Defects in a Sensitized Population
Sheng Chih JinEffects of polygenic inheritance and pairwise genetic interaction on congenital heart disease
David C. Page, MDEvaluating molecular sex differences in the human heart and the contribution to malebiased
cardiovascular diseases
Katarzyna Chawarska, PhDEarly identification of neurodevelopmental abnormalities in patients with congenital heart disease
Matt Lewis, MDThe Association of Damaging Genetic Variation With Ventricular Function in Hypoplastic Left Heart Syndrome
Stephanie Sherman, PhDGenetic modifiers of Congenital Heart Defects in a Sensitized Population
Stephanie Ware, MD, PhDGenetic Testing and Evaluation Practices in Patients with Congenital Heart Defects
Stephanie Sherman, PhDDS360: Genotype/phenotype study of Down syndrome
Dorota Gruber, PhDStatus of Prenatal Screening for Congenital Heart Disease
Nicole Weaver, MDGenetic diagnoses among a cohort of children with pulmonary stenosis
Zhaoxia Sun
Ciliopathies as developmental mechanisms of human structural birth defects
Bruce Gelb
New York City / Duke Mendelian Genomics Research Center
David Talavera, MDIdentification of gene-dosage imbalances causing Congenital Heart Disease
Mark W. Russell, MDDevelopment of a Polygenic Risk Score for Adverse Outcomes of Congenital Heart Defects
Ryan Urbanowicz, PhD
Betsy Goldmuntz, MD
Biomedical Feature Selection Tools for Large-Scale Complex Genetic Analysis
Betsy Goldmuntz, MDOrigins and Burden of Multi-Organ Fibrosis in Patients with Single Ventricle Heart Disease
Betsy Goldmuntz, MDGenetics of non-syndromic conotruncal defects