Chris Thornborough

University of Nottingham — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

8h-index1.5kcitations13works0.02yr avg
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Research Topics

Congenital heart defects research(9), Congenital Heart Disease Studies(8), Genomic variations and chromosomal abnormalities(6), Pulmonary Hypertension Research and Treatments(3), Prenatal Screening and Diagnostics(2)

Publications13 total

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Nature Genetics·2016· 462 citedOpen Access
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
The American Journal of Human Genetics·2016· 8 citedOpen Access
Erratum: Rare variants in NR2F2 cause congenital heart defects in humans (The American Journal of Human Genetics (2014) 94 (574-585)
The American Journal of Human Genetics·2014· 3 cited
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
The American Journal of Human Genetics·2014· 8 citedOpen Access
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
The American Journal of Human Genetics·2014· 185 citedOpen Access
Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease
Circulation Cardiovascular Genetics·2013· 52 citedOpen Access
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
Nature Genetics·2013· 156 citedOpen Access
Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot
Human Molecular Genetics·2013· 103 citedOpen Access
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
The American Journal of Human Genetics·2012· 335 citedOpen Access
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
Human Molecular Genetics·2011· 162 citedOpen Access
Abstract 13687: Global Rare Genic Copy Number Variants Contribute to Isolated Sporadic Tetralogy of Fallot
Circulation·2011
Abstract 13234: 1q21.1 Microduplications are Strongly Associated with Tetralogy of Fallot and 1q21.1 Microdeletions are Associated with Other Congenital Heart Defects
Pediatric Cardiology·2011
1q21.1 rearrangements in non-syndromic tetralogy of Fallot and other congenital heart defects
2011

Frequent Co-authors

Kerry Setchfield(13), Koenraad Devriendt(13), Jeroen Breckpot(12), Shoumo Bhattacharya(12), Frances Bu’Lock(12), Catherine Cosgrove(12), J. David Brook(12), Jamie Bentham(11), Marc Gewillig(9), Bernard Keavney(9), Heather J. Cordell(8), Rachel Soemedi(7), David S. Winlaw(7), Barbara J.M. Mulder(7), Matthew E. Hurles(6), Rebecca Darlay(6), Ana Töpf(6), Javier T Granados-Riveron(6), Anita Rauch(6), Marc‐Phillip Hitz(5)