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
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 |
| Zhaoxia Sun | Ciliopathies as developmental mechanisms of human structural birth defects |
| Bruce Gelb | New York City / Duke Mendelian Genomics Research Center |
| David Talavera, MD | Identification of gene-dosage imbalances causing Congenital Heart Disease |
| Mark W. Russell, MD | Development 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, MD | Origins and Burden of Multi-Organ Fibrosis in Patients with Single Ventricle Heart Disease |
| Betsy Goldmuntz, MD | Genetics of non-syndromic conotruncal defects |