Judith A. Goodship

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A K Ryan, Judith A. Goodship, David I. Wilson et al. · Journal of Medical Genetics · 1997 · 1.2K citations · Full text

Cytogenetics, Genetics, Genetic Epidemiology +23

A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

Mark O’Driscoll, Víctor L. Ruiz‐Pérez, C. Geoffrey Woods et al. · Nature Genetics · 2003 · 774 citations

Rare Diseases, Genetic Disorder, Medicine +8

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Edgar A. Otto, Bernhard Schermer, Tomoko Obara et al. · Nature Genetics · 2003 · 641 citations · Full text

Pathogenesis, Immunology, Iga Glomerulonephritis +6

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

Deborah Mackay, Jonathan L A Callaway, Sophie M Marks et al. · Nature Genetics · 2008 · 524 citations

Developmental Biology, Genetic Disorder, Multiple Imprinted Loci +7

Genetic studies into inherited and sporadic hemolytic uremic syndrome

Paul Warwicker, Timothy H.J. Goodship, Rosemary L. Donne et al. · Kidney International · 1998 · 493 citations

Genetic Disorder, Genetics, Genetic Epidemiology +3