Abstracts and Presentations

Etiology of hypoplastic left heart syndrome: insights from mutant mouse models. X. Liu, S. Zaed, L. Chen, G. Gabriel, M. Schwartz, K. Peterson, A. Bais, H. Yagi, K. Bentley, N. Klena,  Y. Li, B. Gibbs, W. Devine, L. Leatherbury, M. Zahid, M. Ganapathiraju, D. Kostka, D. Murray,  G. Porter, C.W. Lo. The Weinstein Cardiovascular Development Conference, Boston, MA, April 30-May 2, 2015. Abstract.

Bench to Bassinet mouse models of congenital heart disease and mouse genetic resource. N. Klena, G. Gabriel, Y. Li, C.W. Lo. The Weinstein Cardiovascular Development Conference, Boston, MA, April 30-May 2, 2015. Abstract.

Self-Organized Map analysis of temporal RNA-seq datasets reveals gene regulatory interactions during heart looping and atrio-ventricular canal formation. J. Hill, B. Gorsi, B. Damarest, M. Smith, H.J. Yost. The Weinstein Cardiovascular Development Conference, Boston, MA, April 30-May 2, 2015. Abstract.

Recessive and compound-heterozygous variants in novel gene pathways in Congenital Heart Disease. S.W. Watkins, B. Kennedy, B.W. Bisgrove, M. Tristani-Firouzi, M. Yandell, H.J. Yost. The Weinstein Cardiovascular Development Conference, Boston, MA, April 30-May 2, 2015. Abstract.

Self-Organized Map analysis of temporal RNA-seq datasets reveals gene regulatory interactions during heart looping and atrio-ventricular canal formation. J. Hill, B. Gorsi, B. Damarest, M. Smith, H.J. Yost. Keystone Symposia. Heart Disease and Regeneration: Insights from Development. Copper Mountain, CO, March 1-6, 2015. Abstract.

Atrial Septal Defect (ASD) GWAS. L. Rodriguez-Murillo, M. Parfenov, I. Peter, W.K. Chung, L. Mitchell, A.J. Agopian, C. Seidman, J. Seidman, B.D. Gelb, Pediatric Genomics Consortium. American Society for Human Genetics, San Diego, CA, October 18-22, 2014. Presentation.

NHLBI's Bench to Bassinet Program: an overview. J. Kaltman. Pediatric Academic Societies Annual Meeting, Vancouver, Canada, April 25-28, 2014. Presentation.

Congenital Heart Disease: from human genetics to zebrafish. H. J. Yost. Pediatric Academic Societies Annual Meeting, Vancouver, Canada, April 25-28, 2014. Poster.

Forward genetic screen with mouse ENU mutagenesis reveals a central role for the cilia and left-right patterning in congenital heart disease. Y. Li, N. Klena, R. Francis, et al. The Weinstein Cardiovascular Development Conference, Tucson, AZ, May 16-18, 2013. Poster.

Mouse model of hypoplastic left heart syndrome shows multigenic disease etiology and defects in energy metabolism. X. Liu, S. Saeed, B. Gibbs, et al. The Weinstein Cardiovascular Development Conference, Tucson, AZ, May 16-18, 2013. Abstract.

Resource sharing by the NHLBI Bench to Bassinet Program. C. Schramm. The Weinstein Cardiovascular Development Conference, Tucson, AZ, May 16-18, 2013. Poster.

De novo mutations in histone-modifying genes in congenital heart disease. S. Zaidi, M. Choi, W. K. Chung, et al. The Weinstein Cardiovascular Development Conference,  Tucson, AZ, May 16-18, 2013. Poster.

Bridging animal and human research: lessons learned from two birth defects consortia. W. Chung. 9th Annual Structural Birth Defects Working Group Meeting, Rockville, MD, April 8-10, 2013. Abstract.

NAT10 mutation causes ciliary aplisia and congenital heart disease associated with heterotaxy. Y. Li, H. Yagi, E. O. Onuoha, et al. The American Heart Association Conference, Los Angeles, CA, November 3-7, 2012. Abstract.

A multigenic etiology of Hypoplastic Left Heart Syndrome: an analysis based on three novel mutant mouse models of Hypoplastic Left Heart Syndrome. X. Liu, S. Saeed, Y. Li, et al. The American Heart Association Conference, Los Angeles, CA, November 3-7, 2012. Abstract.

High prevalence of mutants with left-right patterning defects recovered from a large-scale mouse mutagenesis screen for mutations causing congenital heart defects. D. Farkas, A. J. Kim, R. Francis, et al. The Weinstein Cardiovascular Development Conference, Chicago, IL, May 2-4, 2012. Abstract.

Confocal episcopic fluorescence image capture for phenotyping complex congenital heart defects and other structural malformations. R. J. B. Francis, R. Bunn, A. Reidler, and C. W. Lo. The Weinstein Cardiovascular Development Conference, Chicago, IL, May 2-4, 2012. Abstract.

Isolation of nuclei from specific cardiac lineages in zebrafish for genome-wide and epigenomic analyses. B. Gorsi and H. J. Yost. The Weinstein Cardiovascular Development Conference, Chicago, IL, May 2-5, 2012. Abstract.

PRC2 regulates heart development and adult heart energy homeostasis. A. He, Q. Ma, J. Cao, et al. The Weinstein Cardiovascular Development Conference, Chicago, IL, May 2-5, 2012. Abstract.

MMAPPR: Mutation mapping analysis pipeline for polled RNA-seq. J. Hill, B. Demarest, B. Bisgrove, B. Gorsi, H. J. Yost. The Weinstein Cardiovascular Development Conference, Chicago, IL, May 2-5, 2012. Abstract.

High-throughput phenotyping for structural heart defects in fetal/neonatal mice using micro-computer tomography. A. J. Kim, R. Francis, W. Shung, et al. The Weinstein Cardiovascular Development Conference, Chicago, IL, May 2-5, 2012. Abstract.

Recovery of ENU induced mutations causing congenital heart disease using next-gen sequencing. Y. Li, S. Fatakia, A. Srinivasan, et al. The Weinstein Cardiovascular Development Conference, Chicago, IL, May 2-5, 2012. Abstract.

Large scale forward genetic screen in fetal mice reveals genetic etiology for hypoplastic left heart syndrome and wide spectrum of congenital heart defects. X. Liu, A. Kim, G. Chen, et al. The Weinstein Cardiovascular Development Conference, Chicago, IL, May 2-5, 2012. Abstract.

Human amniocytes contain subpopulations of stem cells that have a repressed cardiogenic status. C. T. Maguire, B. Demarest, J. Akiona, et al. The Weinstein Cardiovascular Development Conference, Chicago, IL, May 2-5, 2012. Abstract.

Resource sharing by the Cardiovascular Development Consortium: A basic research component of the NHLBI Bench to Bassinet Program. C. Schramm, B. G. Bruneau, C. Lo, et al. The Weinstein Cardiovascular Development Conference, Chicago, IL, May 2-5, 2012. Poster.

Capture and analysis of cardiac lineage-specific gene expression profiles. T. A. Townsend and H. J. Yost. The Weinstein Cardiovascular Development Conference, Chicago IL, May 2-5, 2012. Abstract.

An essential role for RNA binding protein Bicc1 in cardiac development and function. H. Yagi, X. Liu, B. Chatterjee, et al. The Weinstein Cardiovascular Development Conference, Chicago, IL, May 2-5, 2012. Abstract.

The Cardiovascular Development Consortium (CvDC): a basic research component of the NHLBI Bench to Bassinet Program. C. Schramm, B. G. Bruneau, C. Lo, et al. The Weinstein Cardiovascular Development Conference, Cincinnati, OH, May 5-7, 2011. Poster.

Molecular dissection of GPCR-mediated migration of human iPS cell-derived neural crest cells. F. Kreitzer, J. Park, E.W. Hua, et al. The Weinstein Cardiovascular Development Conference, Cincinnati, OH, May 5-7, 2011. Abstract.

Identification of novel cardiomyopathy mutants with quantitation of ventricular dimensions in neonatal mice using micro-computed tomography. A. Kim, R. Ramirez, X. Liu, et al. The Weinstein Cardiovascular Development Conference, Cincinnati, OH, May 5-7, 2011. Abstract.

Recovery of congenital heart disease mutants using ultra-high frequency ultrasound biomicroscopy in a high throughput mouse mutagenesis screen. X. Liu, R. Francis, R. Subrmanian, et al. The Weinstein Cardiovascular Development Conference, Cincinnati, OH, May 5-7, 2011. Abstract.

Large scale mouse mutagenesis screen using fetal echocardiography for recovery of mutations causing congenital heart disease. R. Ramirez, X Liu, R. Subramanian, et al.  The Weinstein Cardiovascular Development Conference, Cincinnati, OH, May 5-7, 2011. Abstract.

 

A deep learning framework identifies a role for noncoding de novo variants in congenital heart disease. Richter F, Chen KM, Zhou J, Morton S, Kitaygorodsky A, Qi H, Patel N, Manheimer K, Schadt EE, Newburger JW, Goldmuntz E, Brueckner M, Porter GA, Kim RW, Srivastava D, Bernstein D, Tristani-Firouzi M, Yost J, Yandell M, Shen Y, Chung WK, Seidman JG, Seidman CE, Troyanskaya OG, Gelb BD. American Society of Human Genetics. San Diego, CA. October 16-20, 2018.

 

Mosaic mutations contribute to congenital heart disease. Hsieh A, Morton S, Qi H, Manheimer KB, Bernstein D, Kim RW, Newburger JW, Porter GA, Jr., Srivastava D, Tristani-Firouzi M, Brueckner M, Lifton RP, Seidman CE, Goldmuntz E, Gelb BD, Seidman JG, Chung WK, Shen Y. American Society of Human Genetics. San Diego, CA. October 16-20, 2018.

Increased Burden of Rare Germline Variants Associated with Increased Risk for Cancer and Bone Marrow Failure Among Patients with Congenital Heart Disease. Morton SU, Shimamura A, Newburger PE, Opotowsy AR, Brueckner M, Chung WK, Shen Y, Gelb BD, Goldmuntz E, Kaltman JR, Kim RW, Lifton RP, Porter Jr GA, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, Seidman CE. American Society of Human Genetics. San Diego, CA. October 16-20, 2018.