Browsing publications by Dr Elise Glen

Newcastle AuthorsTitleYear
Dr Ana Topf
Dr Helen Griffin
Dr Elise Glen
Rachel Soemedi
Dr Danielle Brown
et al.
Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot2014
Dr Elise Glen
Dr Ana Topf
Professor Judith Goodship
A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti2013
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
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 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart 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
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
Dr Helen Griffin
Dr Ana Topf
Dr Elise Glen
Dr John O'Sullivan
Professor Sir John Burn
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