Goodship, Judith A.

Top Publications

Top Publications Authored or Co-Authored by "Goodship, Judith A."

• Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

  Nature Genetics, Volume 48, No. 9, Year 2016, Citations 329
• The Cockayne Syndrome Natural History (CoSyNH) study: Clinical findings in 102 individuals and recommendations for care

  Genetics in Medicine, Volume 18, No. 5, Year 2016, Citations 128
• Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

  American Journal of Human Genetics, Volume 97, No. 2, Article 1912, Year 2015, Citations 71
• Widening the mutation spectrum of EVC and EVC2: Ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling

  Human Mutation, Volume 30, No. 12, Year 2009, Citations 57
• Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in ellis-van Creveld syndrome with borderline intelligence

  Human Mutation, Volume 29, No. 7, Year 2008, Citations 54