Dr Sarra Ryan Elizabeth Matheson Dr Paul Sinclair Dr Matthew Bashton Claire Schwab et al. | The role of the RAS pathway in iAMP21-ALL | 2016 |
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Darren Houniet Dr Thahira Rahman Dr Yaobo Xu Professor Judith Goodship Professor Bernard Keavney et al. | Using population data for assessing next-generation sequencing performance | 2015 |
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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 Fallot | 2014 |
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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 analysis | 2014 |
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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 Controls | 2013 |
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Dr Thahira Rahman Valentina Mamasoula Dr Peter Avery Professor Bernard Keavney
| Common Variation Neighbouring Micro-RNA 22 Is Associated with Increased Left Ventricular Mass | 2013 |
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Dr Thahira Rahman Professor Bernard Keavney Professor Judith Goodship
| Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7 | 2013 |
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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 Fallot | 2013 |
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Professor Heather Cordell Dr Ana Topf Valentina Mamasoula Rachel Soemedi Dr Ruairidh Martin et al. | Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 | 2013 |
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Darren Houniet Dr Thahira Rahman Dr Mauro Santibanez Koref Professor Bernard Keavney
| Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis | 2013 |
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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 Fallot | 2012 |
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Professor Rita Horvath Vivienne Neeve Dr Angela Pyle Dr Helen Griffin Deepthi Ashok et al. | A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy | 2012 |
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Valentina Mamasoula Dr Tomasz Pierscionek Dr Ana Topf Dr Thahira Rahman Dr John O'Sullivan et al. | Aetiological Role Of Folate Deficiency In Congenital Cardiovascular Malformation: Evidence From "Mendelian Randomisation" And Meta-Analysis | 2012 |
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Rachel Soemedi Dr Ian Wilson Dr Rebecca Darlay Dr Ana Topf Dr Simon Zwolinski et al. | Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease | 2012 |
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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 controls | 2012 |
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Valentina Mamasoula Dr Tomasz Pierscionek Addison Palomino Doza Dr Ana Topf Dr Thahira Rahman et al. | Aetiological role of folate deficiency in congenital heart disease: evidence from Mendelian randomisation and meta-analysis | 2011 |
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Dr Thahira Rahman Dr Peter Avery Professor Bernard Keavney
| Common Variation at the 11-beta Hydroxysteroid Dehydrogenase Type 1 Gene Is Associated With Left Ventricular Mass | 2011 |
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Dr Darroch Hall Dr Thahira Rahman Dr Peter Avery Professor Bernard Keavney
| Common variation in the CD36 (fatty acid translocase) gene is associated with left-ventricular mass | 2011 |
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Dr Rachel Dickinson Dr Helen Griffin Dr Venetia Bigley Dr Louise Reynard Raf Hussain et al. | Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency | 2011 |
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Dr Thahira Rahman Dr Darroch Hall Dr Peter Avery Professor Bernard Keavney
| Genotype at the P554L Variant of the Hexose-6 Phosphate Dehydrogenase Gene Is Associated with Carotid Intima-Medial Thickness | 2011 |
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Dr Thahira Rahman Professor Judith Goodship Professor Bernard Keavney
| Mutations in the sarcamere protein gene MYH7 in Ebstein's anomaly | 2011 |
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Dr Thahira Rahman Professor Bernard Keavney Professor Judith Goodship
| Mutations in the sarcomere gene MYH7 in Ebstein anomaly | 2011 |
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Dr Sarra Ryan Dr Vikki Rand Claire Schwab Heather Morrison Elizabeth Matheson et al. | Ras Signalling Pathway and Novel Target Genes Related to Down Syndrome Contribute to the Development of B-Cell Precursor Acute Lymphoblastic Leukemia (BCP-ALL) in iAMP21 Patients | 2011 |
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Dr Thahira Rahman Dr Peter Avery Hannah Watkins Professor Bernard Keavney
| Association between HSD11B1 polymorphism and left ventricular mass in families with hypertension | 2009 |
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Dr Thahira Rahman
| Effects of Rhamnolipids from Pseudomonas aeruginosa DS10-129 on Luminescent Bacteria: Toxicity and Modulation of Cadmium Bioavailability | 2009 |
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Angeline Tan Dr Ana Topf Dr Helen Griffin Raf Hussain James Eden et al. | Role of Genetic Variation in the Transcriptional Inhibitor Protein SMAD6 in the Predispoition to Congenital Cardiovascular Malformation | 2009 |
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Addison Palomino Doza Dr Thahira Rahman Dr Peter Avery Professor Chris Edwards Professor Bernard Keavney et al. | Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes | 2008 |
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Dr Thahira Rahman Michelle Baker Dr Darroch Hall Dr Peter Avery Professor Bernard Keavney et al. | Common genetic variation in the type A endothelin-1 receptor is associated with ambulatory blood pressure: A family study | 2008 |
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Dr Thahira Rahman Professor Bernard Keavney
| Association between polymorphic variation in the endothelin-1 type a receptor gene and ambulatory blood pressure | 2007 |
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Professor Bernard Keavney Dr Thahira Rahman James Eden Raf Hussain
| Association between the purinergic receptors P2X4, P2X6 and P2X7 genetic variation and blood pressure in a British population | 2007 |
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Michelle Baker Dr Thahira Rahman Dr Darroch Hall Dr Peter Avery Hannah Watkins et al. | The C-532T polymorphism of the angiotensinogen gene is associated with pulse pressure: A possible explanation for heterogeneity in genetic association studies of AGT and hypertension | 2007 |
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Dr Darroch Hall Dr Thahira Rahman Dr Peter Avery Professor Bernard Keavney
| INSIG-2 promoter polymorphism and obesity related phenotypes: Association study in 1428 members of 248 families | 2006 |
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