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Browsing publications by Professor Judith Goodship

Newcastle AuthorsTitleYearFull text
Dr Paul Brennan
Professor Judith Goodship
Alexander Henderson
Linda Sneddon
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield2019
Dr David Bourn
Professor Sir John Burn
Dr Richard Fisher
Professor Judith Goodship
Alexander Henderson
et al.		Prevalence and architecture of de novo mutations in developmental disorders2017
Professor Heather Cordell
Professor Bernard Keavney
Professor Judith Goodship
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve2017
Professor Judith Goodship
Professor Heather Cordell
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 202016
Dr Michael Wright
Professor Judith Goodship
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing2016
Dr Brian Wilson
Professor Judith Goodship
Dr Ian Wilson
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care2016
Professor Judith Goodship
Matthieu Miossec
Dr Danielle Brown
Dr Ian Wilson
Dr Lou Sutcliffe
et al.		Analysis of rare variants and CNVs in non-syndromic tetralogy of Fallot2015
Professor Bernard Keavney
Professor Judith Goodship
Professor Heather Cordell
Association analysis identifies new risk loci for congenital heart disease in Chinese populations2015
Dr Ana Topf
Professor Judith Goodship
Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development2015
Professor Judith Goodship
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families2015
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