Affiliation: Harvard University
- Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart developmentKasper Lage
Pediatric Surgical Research Laboratories, Department of Molecular Biology, and Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA
Proc Natl Acad Sci U S A 109:14035-40. 2012..This integrative analysis of CHD risk factors and responses suggests a complex pattern of functional interactions between genomic variation and environmental exposures that modulate critical biological systems during heart development...
- Dissecting spatio-temporal protein networks driving human heart development and related disordersKasper Lage
Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Massachusetts General Hospital, Boston, MA 02114, USA
Mol Syst Biol 6:381. 2010....
- Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformaticsMauro Longoni
The Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114 Department of Surgery, Harvard Medical School, Boston, MA 02115
Proc Natl Acad Sci U S A 111:12450-5. 2014..Furthermore, we propose that these genes and pathways will enhance our understanding of the heterogeneous molecular etiology of CDH. ..
- MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosusFabiola Quintero-Rivera
Molecular Neurogenetics Unit and Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA, Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
Hum Mol Genet 24:2375-89. 2015..Thus, subtle perturbations in Matrin 3 expression appear to cause similar LVOT defects in human and mouse. ..
- Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networksMauro Longoni
Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Am J Med Genet A 158:3148-58. 2012..This combination of bioinformatics and expression studies can be applied to other chromosomal hotspots, as well as private microdeletions or microduplications, to identify causative genes and their interaction networks...
- Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundariesMichael E Talkowski
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
Cell 149:525-37. 2012....