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 Investigator Study 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, PhD Molecular analyses of POGZ mutation in human neural cells
Thomas A. Miller, MD Adapting Bioinformatic Tools to Uncover Genomic Modifiers of Clinical Outcomes in Congenital Heart Disease
Mark W. Russell, MD Evaluation of novel candidate genes for conotruncal heart defects
Elizabeth Goldmuntz, MD Maternal Genetic Risk Factors for CHD
Andrew Sharp, MD Epigenetic Profiling in Multiple Congenital Anomalies Syndromes
Sophie Astrof, PhD Mutations in Fibronectin and its Receptors in Patients with Arch Artery Defects and Heterotaxy
Kyu-Ho Lee, MD, PhD Contribution of Nkx2.5 Regulatory Region Polymoorphisms to Congenital Heart Disease
Yufeng Shen, PhD Methods for Identification of Candidate Functional Variants from High-Throughput Sequencing Data in Genetics
Jonathan Seidman, MD Analysis of CHD Sequence Variants by High Throughput Murine Transgenesis
James Priest, MD Complete Genotyping of Patients with Atrioventricular Septal Defects
Mustafa Khokha, MD Functional Assays to Screen Genomic Hits
Laura Mercer-Rosa, MD Influence of Genotype on Outcomes in Tetralogy of Fallot
Jonathan Epstein, MD SEMA3D 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, MD Functional 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, PhD Maternal Effect Genes as Risk Factors for Congenital Heart Defects
Ryan Urbanowicz, PhD Biomedical 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, PhD Regulatory genetic variants in congenital heart disease risk
Elise Robinson, ScD The role of de novo variants in the association between advanced paternal age and disease
Stephanie Sherman, PhD Genetic modifiers of Congenital Heart Defects in a Sensitized Population
Sheng Chih Jin Effects of polygenic inheritance and pairwise genetic interaction on congenital heart disease
David C. Page, MD Evaluating molecular sex differences in the human heart and the contribution to malebiased
cardiovascular diseases
Katarzyna Chawarska, PhD Early identification of neurodevelopmental abnormalities in patients with congenital heart disease
Matt Lewis, MD The Association of Damaging Genetic Variation With Ventricular Function in Hypoplastic Left Heart Syndrome
Stephanie Sherman, PhD Genetic modifiers of Congenital Heart Defects in a Sensitized Population
Stephanie Ware, MD, PhD Genetic Testing and Evaluation Practices in Patients with Congenital Heart Defects
Stephanie Sherman, PhD DS360: Genotype/phenotype study of Down syndrome
Dorota Gruber, PhD Status of Prenatal Screening for Congenital Heart Disease
Nicole Weaver, MD Genetic diagnoses among a cohort of children with pulmonary stenosis