Judith A. Goodship
Newcastle University(GB)
Publications by Year
Research Areas
Complement system in diseases, Genetic and Kidney Cyst Diseases, Congenital heart defects research, Hedgehog Signaling Pathway Studies, Genetic Syndromes and Imprinting
Most-Cited Works
- → Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.(1997)1,194 cited
- → A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome(2003)775 cited
- → Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination(2003)641 cited
- → Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57(2008)536 cited
- → Genetic studies into inherited and sporadic hemolytic uremic syndrome(1998)493 cited
- → Mutations in Complement Factor I Predispose to Development of Atypical Hemolytic Uremic Syndrome(2005)474 cited
- → Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus(1992)418 cited
- → Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome(2003)405 cited
- → Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease(2012)337 cited
- → Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome(2007)320 cited