Browsing publications by Dr Ana Topf

Newcastle AuthorsTitleYearFull text
Dr Marta Bertoli
Dr Ana Topf
Dr Lizzie Harris
Dr Steven Laval
Dr Anna Sarkozy
et al.
A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism2015
Dr Richard Howey
Valentina Mamasoula
Dr Ana Topf
Professor Judith Goodship
Professor Bernard Keavney
et al.
Increased power for detection of parent-of-origin effects via the use of haplotype estimation2015
Dr Richard Howey
Valentina Mamasoula
Dr Ana Topf
Professor Judith Goodship
Professor Bernard Keavney
et al.
Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation2015
Sebastian Figueroa Bonaparte
Dr Rita Barresi
Dr Tuomo Polvikoski
Dr Timothy Williams
Dr Ana Topf
et al.
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK2015
Dr Ana Topf
Dr Teresinha Evangelista
Professor Hanns Lochmuller
Dpagt1 mutation: Limb-girdle congenital myasthenic syndrome due to glycosylation defect2014
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
Matthieu Miossec
Raf Hussain
Dr Thahira Rahman
Dr Ana Topf
Dr Mauro Santibanez Koref
et al.
Investigating the cause of transposition of great arteries; exome sequencing analysis2014
Dr Elise Glen
Dr Ana Topf
Professor Judith Goodship
A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti2013
Valentina Mamasoula
Dr Tomasz Pierscionek
Dr Darroch Hall
Dr Ana Topf
Dr Danielle Brown
et al.
Association between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7,697 Cases and 13,125 Controls2013
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
123