Judith Goodship
Inserm(FR)University of Zurich(CH)Collaborative Group (United States)(US)
Publications by Year
Research Areas
Congenital heart defects research, Congenital Heart Disease Studies, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetic and Kidney Cyst Diseases
Most-Cited Works
- → DiGeorge syndrome: part of CATCH 22.(1993)511 cited
- → Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing(2016)464 cited
- → Developmental genetics of the heart(1996)299 cited
- → De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome(2011)277 cited
- → Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.(1993)269 cited
- → A population study of chromosome 22q11 deletions in infancy(1998)250 cited
- → A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus