Browsing publications by Professor Judith Goodship

Newcastle AuthorsTitleYearFull text
Professor Bernard Keavney
Professor Judith Goodship
Professor Heather Cordell
Association analysis identifies new risk loci for congenital heart disease in Chinese populations2015
Professor Judith Goodship
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families2015
Dr Richard Howey
Valentina Mamasoula
Dr Ana Topf
Professor Judith Goodship
Professor Bernard Keavney
et al.
Increased power for detection of parent-of-origin effects via the use of haplotype estimation2015
Dr Richard Howey
Valentina Mamasoula
Dr Ana Topf
Professor Judith Goodship
Professor Bernard Keavney
et al.
Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation2015
Dr David Bourn
Professor Sir John Burn
Dr Richard Fisher
Professor Judith Goodship
Dr Alistair Henderson
et al.
Large-scale discovery of novel genetic causes of developmental disorders2015
Professor Judith Goodship
Professor Tim Goodship
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development2015
Dr John Sayer
Dr Ann Marie Hynes
Dr Sally Johnson
Professor Judith Goodship
Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report2015
Professor Judith Goodship
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium2015
Dr Brian Wilson
Professor Judith Goodship
Dr Ian Wilson
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care2015
Professor Judith Goodship
Professor Tim Goodship
Dr Heather Lambert
Professor Heather Cordell
Urinary Tract Effects of HPSE2 Mutations2015
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