Judith A. Goodship

Overview

Best Publications

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

  A K Ryan;J A Goodship;D I Wilson;N Philip

  1310
  Citations

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

  Mark O'Driscoll;Victor L Ruiz-Perez;C Geoffrey Woods;Penny A Jeggo

  947
  Citations

• 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

  720
  Citations

• 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

  685
  Citations

• DiGeorge syndrome: part of CATCH 22.

  D I Wilson;J Burn;P Scambler;J Goodship

  648
  Citations

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

  Deborah J G Mackay;Deborah J G Mackay;Jonathan L A Callaway;Jonathan L A Callaway;Sophie M Marks;Helen E White

  558
  Citations

• Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

  P.J Scambler;D Kelly;E Lindsay;R Williamson

  493
  Citations

• Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome

  Anna Richards;Elizabeth J Kemp;M Kathryn Liszewski;Judith A Goodship

  490
  Citations

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

  Alejandro Sifrim;Marc-Phillip Hitz;Anna Wilsdon;Jeroen Breckpot

  482
  Citations

• Developmental genetics of the heart

  John Burn;Judith Goodship

  465
  Citations

• Mutations in Complement Factor I Predispose to Development of Atypical Hemolytic Uremic Syndrome

  David Kavanagh;Elizabeth J. Kemp;Elizabeth Mayland;Robin J. Winney

  453
  Citations

• Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome

  Peter F Zipfel;Matthew Edey;Stefan Heinen;Mihály Józsi

  401
  Citations

• Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

  Victor L. Ruiz-Perez;Susan E. Ide;Susan E. Ide;Tim M. Strom;Bettina Lorenz

  379
  Citations

• Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

  J Burn;A Takao;D Wilson;I Cross

  366
  Citations

• Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition

  Anna A. Richards;Mark R H M.R. Buddles;Rosemary R.L. Donne;Bernard B.S. Kaplan

  363
  Citations

• Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.

  M. Satoda;Feng Zhao;G. A. Diaz;J. Burn

  349
  Citations

• Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse

  David Morgan;Lee Turnpenny;Judith Goodship;Weilie Dai

  340
  Citations

• Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

  Rachel Soemedi;Ian J. Wilson;Jamie Bentham;Rebecca Darlay

  336
  Citations

• A population study of chromosome 22q11 deletions in infancy

  Judith Goodship;Ian Cross;Jesse LiLing;Christopher Wren

  328
  Citations

• De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

  Alexander Hoischen;Bregje W M van Bon;Benjamín Rodríguez-Santiago;Benjamín Rodríguez-Santiago;Christian Gilissen

  305
  Citations