Browsing publications by Dr Ana Topf

Newcastle AuthorsTitleYear
Professor Heather Cordell
Dr Ana Topf
Valentina Mamasoula
Dr Rebecca Darlay
Rachel Soemedi
et al.		Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot2013
Professor Judith Goodship
Dr Darroch Hall
Dr Ana Topf
Valentina Mamasoula
Dr Helen Griffin
et al.		A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot2012
Valentina Mamasoula
Dr Ana Topf
Dr Thahira Rahman
Dr John O'Sullivan
Dr Christopher Wren
et al.		Aetiological Role Of Folate Deficiency In Congenital Cardiovascular Malformation: Evidence From "Mendelian Randomisation" And Meta-Analysis2012
Rachel Soemedi
Dr Ian Wilson
Dr Rebecca Darlay
Dr Ana Topf
Dr Simon Zwolinksi
et al.		Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease2012
Dr Ana Topf
Professor Judith Goodship
Professor Deborah Henderson
Dr John O'Sullivan
Professor Bernard Keavney
et al.		Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to congenital heart disease2012
Dr Elise Glen
Dr Ana Topf
Dr Darroch Hall
Dr John O'Sullivan
Linda Sneddon
et al.		Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation2012
Rachel Soemedi
Dr Ana Topf
Dr Ian Wilson
Dr Rebecca Darlay
Dr Thahira Rahman
et al.		Phenotype-Specific Effect of Chromosome 1q21.1Rearrangements and GJA5 Duplications in 2437 CongenitalHeart Disease Patients and 6760 Controls2012
Dr Elise Glen
Dr Ana Topf
Dr Darroch Hall
Dr John O'Sullivan
Linda Sneddon
et al.		Non-synonymous SMAD6 mutations impaired inhibition of BMP signalling in patients with congenital cardiovascular malformation2011
Dr Ana Topf
Professor Bernard Keavney
Professor Judith Goodship
22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia2010
Dr Ana Topf
Dr Elise Glen
Dr John O'Sullivan
Professor Sir John Burn
Professor Heather Cordell
et al.		Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants2010
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