Susan Fernbach
Baylor College of Medicine(US)
Publications by Year
Research Areas
Congenital heart defects research, Congenital Heart Disease Studies, Cardiac tumors and thrombi, Tracheal and airway disorders, Genomics and Rare Diseases
Most-Cited Works
- → Clinical Characterization of Left Ventricular Noncompaction in Children(2003)652 cited
- → Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease(2004)461 cited
- → Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation(2006)391 cited
- → Genetic Predictors and Remodeling of Dilated Cardiomyopathy in Muscular Dystrophy(2005)283 cited
- → Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects(2004)279 cited
- → Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability(2005)231 cited
- → Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic Fibrosis(1990)221 cited
- → Danon Disease as an Underrecognized Cause of Hypertrophic Cardiomyopathy in Children(2005)174 cited
- → Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations(2008)173 cited
- → Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome)(2009)90 cited