Chris Thornborough
Overview
Explore the profile of Chris Thornborough including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
687
Followers
0
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Recent Articles
1.
Al Turki S, Manickaraj A, Mercer C, Gerety S, Hitz M, Lindsay S, et al.
Am J Hum Genet
. 2017 Sep;
98(3):592.
PMID: 28863274
No abstract available.
2.
Sifrim A, Hitz M, Wilsdon A, Breckpot J, Al Turki S, Thienpont B, et al.
Nat Genet
. 2016 Aug;
48(9):1060-5.
PMID: 27479907
Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk...
3.
Al Turki S, Manickaraj A, Mercer C, Gerety S, Hitz M, Lindsay S, et al.
Am J Hum Genet
. 2014 Apr;
94(4):574-85.
PMID: 24702954
Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs...
4.
Mamasoula C, Prentice R, Pierscionek T, Pangilinan F, Mills J, Druschel C, et al.
Circ Cardiovasc Genet
. 2013 Jul;
6(4):347-53.
PMID: 23876493
Background: Association between the C677T polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene and congenital heart disease (CHD) is contentious. Methods And Results: We compared genotypes between CHD cases and...
5.
Cordell H, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, et al.
Nat Genet
. 2013 May;
45(7):822-4.
PMID: 23708191
We carried out a genome-wide association study (GWAS) of congenital heart disease (CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls and included affected individuals from each of...
6.
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot
Cordell H, Topf A, Mamasoula C, Postma A, Bentham J, Zelenika D, et al.
Hum Mol Genet
. 2013 Jan;
22(7):1473-81.
PMID: 23297363
We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 controls. A...
7.
Soemedi R, Wilson I, Bentham J, Darlay R, Topf A, Zelenika D, et al.
Am J Hum Genet
. 2012 Sep;
91(3):489-501.
PMID: 22939634
Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex developmental phenotypes. However, the contribution of global CNV burden to the risk of sporadic congenital heart...
8.
Soemedi R, Topf A, Wilson I, Darlay R, Rahman T, Glen E, et al.
Hum Mol Genet
. 2011 Dec;
21(7):1513-20.
PMID: 22199024
Recurrent rearrangements of chromosome 1q21.1 that occur via non-allelic homologous recombination have been associated with variable phenotypes exhibiting incomplete penetrance, including congenital heart disease (CHD). However, the gene or genes...