J
Judith A. Goodship
Researcher at Newcastle University
Publications - 159
Citations - 15498
Judith A. Goodship is an academic researcher from Newcastle University. The author has contributed to research in topics: DiGeorge syndrome & Atypical hemolytic uremic syndrome. The author has an hindex of 58, co-authored 159 publications receiving 14480 citations. Previous affiliations of Judith A. Goodship include Université catholique de Louvain & Centre for Life.
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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan,Judith A. Goodship,D I Wilson,Nicole Philip,A. Levy,H Seidel,S Schuffenhauer,H Oechsler,B Belohradsky,M Prieur,Alain Aurias,F L Raymond,Jill Clayton-Smith,E Hatchwell,C McKeown,Frits A. Beemer,Bruno Dallapiccola,Giuseppe Novelli,Jane A. Hurst,J Ignatius,A J Green,Robin M. Winter,Louise Brueton,Karen Brøndum-Nielsen,Peter J. Scambler +24 more
TL;DR: The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters, and the majority of surviving patients were developmentally normal or had only mild learning problems.
Journal ArticleDOI
A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome
TL;DR: This analysis shows that UV-induced ATR activation can occur in non-replicating cells following processing by nucleotide excision repair, and identifies a synonymous mutation in affected individuals that alters ATR splicing.
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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,John F. O'Toole,Karl S. Hiller,Adelheid M. Mueller,Rainer G. Ruf,Julia Hoefele,Frank Beekmann,Daniel Landau,John W. Foreman,Judith A. Goodship,Tom Strachan,Andreas Kispert,Matthias T.F. Wolf,Marie F. Gagnadoux,Hubert Nivet,Corinne Antignac,Gerd Walz,Iain A. Drummond,Thomas Benzing,Friedhelm Hildebrandt +21 more
TL;DR: The interaction and colocalization in cilia of inversin, nephrocystin and β-tubulin connect pathogenetic aspects of NPHP to PKD, to primary cilia function and to left-right axis determination.
Journal ArticleDOI
Genetic studies into inherited and sporadic hemolytic uremic syndrome
Paul Warwicker,Timothy H.J. Goodship,Timothy H.J. Goodship,Timothy H.J. Goodship,Rosemary L. Donne,Rosemary L. Donne,Rosemary L. Donne,Yves Pirson,Yves Pirson,Yves Pirson,A. J. Nicholls,A. J. Nicholls,A. J. Nicholls,Roy Ward,Roy Ward,Roy Ward,Peter D Turnpenny,Peter D Turnpenny,Peter D Turnpenny,Judith A. Goodship,Judith A. Goodship,Judith A. Goodship +21 more
TL;DR: It is postulate that abnormalities of factor H may be involved in the etiology of HUS.
Journal ArticleDOI
DiGeorge syndrome: part of CATCH 22.
TL;DR: It is proposed that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.