Staff Profile | Faculty of Medical Sciences

Dr Helen Griffin

Research Associate

Email: helen.griffin@ncl.ac.uk
Telephone: 0191 2087157
Address: Translational and Clinical Research Institute
2nd Floor William Leech Building
Faculty of Medical Sciences
Newcastle University
NE2 4HH

Publications

Santibanez-Koref M, Griffin H, Turnbull DM, Chinnery PF, Herbert M, Hudson G. Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution. Mitochondrion 2019, 46, 302-306.
Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmuller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R. Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease (Genetics in Medicine, (2018), 20, 10, (1224-1235), 10.1038/gim.2017.251). Genetics in Medicine 2019, 21, 2163-2164.
Bartsakoulia M, Pyle A, Troncoso-Chandia D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmuller H, Kleinle S, Chinnery PF, Grunert S, Kirschner J, Eisner V, Horvath R. A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. Human Molecular Genetics 2018, 27(7), 1186-1195.
Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmuller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R. Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease. Genetics in Medicine 2018, 20(10), 1224-1235.
Bansagi B, Phan V, Baker MR, O'Sullivan J, Jennings MJ, Whittaker RG, Müller JS, Duff J, Griffin H, Miller JAL, Gorman GS, Lochmüller H, Chinnery PF, Roos A, Swan LE, Horvath R. Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation. Neurology 2018, 90(21), e1842-e1848.
Boczonadi V, Meyer K, Gonczarowska-Jorge H, Griffin H, Roos A, Bartsakoulia M, Bansagi B, Ricci G, Palinkas F, Zahedi RP, Bruni F, Kaspar B, Lochmuller H, Boycott KM, Muller JS, Horvath R. Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons. Human Molecular Genetics 2018, 27(12), 2187-2204.
Burns DT, Donkervoort S, Muller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bonnemann CG. Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. American Journal of Human Genetics 2018, 102(5), 858-873.
Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibariez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF. Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource. Genome Reseach 2017, 27(1), 165-173.
Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmuller H, Chinnery PF, Horvath R. Genetic heterogeneity of motor neuropathies. Neurology 2017, 88(13), 1226-1234.
Wei W, Keogh MJ, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF. Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains. Acta Neuropathologica Communications 2017, 5, 17.
Keogh MJ, Kurzawa-Akanbi M, Griffin H, Douroudis K, Ayers KL, Hussein RI, Hudson G, Pyle A, Cordell HJ, Attems J, McKeith IG, O'Brien JT, Burn DJ, Morris CM, Thomas AJ, Chinnery PF. Exome sequencing in dementia with Lewy bodies. Translational Psychiatry 2016, 6, e728.
Bansagi B, Lewis-Smith D, Pal E, Duff J, Griffin H, Pyle A, Müller JS, Rudas G, Aranyi Z, Lochmüller H, Chinnery PF, Horvath R. Phenotypic convergence of Menkes and Wilson disease. Neurology Genetics 2016, 2(6), e199.
Metodiev MD, Thompson K, Alston CL, Morris AAM, He LP, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rotig A, Taylor RW. Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. American Journal of Human Genetics 2016, 98(5), 993-1000.
Pfeffer G, Pyle A, Griffin H, Miller J, Wilson V, Turnbull L, Fawcett K, Sims D, Eglon G, Hadjivassiliou M, Horvath R, Nemeth A, Chinnery PF. SPG7 mutations are a common cause of undiagnosed ataxia. Neurology 2015, 84(11), 1174-1177.
Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczukl M. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. American Journal of Human Genetics 2015, 97(2), 319-328.
Keogh MJ, Daud D, Pyle A, Duff J, Griffin H, He L, Alston CL, Steele H, Taggart S, Basu AP, Taylor RW, Horvath R, Ramesh V, Chinnery PF. A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. Neurogenetics 2015, 16(1), 65-67.
Wesolowska M, Gorman GS, Alston CL, Pajak A, Pyle A, He L, Griffin H, Chinnery PF, Miller JAL, Schaefer AM, Taylor RW, Lightowlers RN, Chrzanowska-Lightowlers ZM. Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. Journal of Neuromuscular Diseases 2015, 2(4), 409-419.
Keogh MJ, Pyle A, Daud D, Griffin H, Douroudis K, Eglon G, Miller J, Horvath R, Chinnery PF. Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. Neurology 2015, 84(17), 1818-1820.
Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW. Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28. JAMA Neurology 2015, 72(1), 106-111.
Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF. Exome sequencing in undiagnosed inherited and sporadic ataxias. Brain 2015, 138(2), 276-283.
Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF. Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia. Journal of Neurology 2015, 262(8), 1822-1827.
Griffin H, Pyle A, Chinnery PF. Increased Yield of Exome Sequencing by Off-Target Mitochondrial DNA Analysis. Annals of Neurology 2015, 77(3), 553-553.
Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stranecky V, Hartmannova H, Pristoupilova A, Hodanova K, Piherova L, Kuchar L, Baxova A, Chen R, Barsottini OGP, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie JL, Sampson JR, Chinnery P, Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso JL, Kretzschmar D, Cayouette M, Koenekoop RK, Care4Rare Canada. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nature Communications 2015, 6, 5614.
Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmuller H, Horvath R. Phenotypic variability of TRPV4 related neuropathies. Neuromuscular Disorders 2015, 25(6), 516-521.
Pyle A, Griffin H, Keogh MJ, Horvath R, Chinnery PF. Reply: Evaluation of exome sequencing variation in undiagnosed ataxias. Brain 2015, 138, 1-2.
Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R. Respiratory chain deficiency in nonmitochondrial disease. Neurology Genetics 2015, 1(1), e6.
Bansagi B, Herczegfalvi A, Luczay A, Szabo A, Pyle A, Griffin H, Chinnery PF, Lochmuller H, Karcagi V, Horvath R. STAT5B Mutation as a Cause of Growth Retardation Associated with Neuromuscular Symptoms. In: 2015 Peripheral Nerve Society Biennial Meeting. 2015, Quebec, Canada: Wiley-Blackwell Published, Inc.
Euro L, Konovalova S, Asin-Cayuela J, Tulinius M, Griffin H, Horvath R, Taylor RW, Chinnery PF, Schara U, Thorburn DR, Suomalainen A, Chihade J, Tyynismaa H. Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation. Frontiers in Genetics 2015, 6, 21.
Bansagi B, Griffin H, Ramesh V, Duff J, Pyle A, Chinnery PF, Horvath R. The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy. Brain 2015, 138(11), e391.
Daud D, Griffin H, Douroudis K, Kleinle S, Eglon G, Pyle A, Chinnery PF, Horvath R. Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering. Journal of Neurology 2015, 262(7), 1673-1677.
Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmuller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R. ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. Journal of Neurology 2014, 261(11), 2192-2198.
Boczonadi V, Muller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lutzkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmuller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nature Communications 2014, 5, 4287.
Yu-Wai-Man P, Pyle A, Griffin H, Santibanez-Korev M, Horvath R, Chinnery PF. Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes. British Journal of Ophthalmology 2014, 98(5), 711-713.
Griffin HR, Pyle A, Blakely EL, Alston CL, Duff J, Hudson G, Horvath R, Wilson IJ, Santibanez-Koref M, Taylor RW, Chinnery PF. Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations. Genetics in Medicine 2014, 16(12), 962-971.
Nicole S, Chaouch A, Torbergsen T, Bauche S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Loseth S, Issop Y, Cox D, Muller JS, Evangelista T, Stalberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantai D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmuller H. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. Brain 2014, 137(9), 2429-2443.
Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW. Defective i⁶A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and its Substrate tRNA. PLoS Genetics 2014, 10(6), e1004424.
Lu W, Zhang Y, McDonald DO, Jing HE, Carroll B, Robertson N, Zhang Q, Griffin H, Sanderson S, Lakey JH, Morgan NV, Reynard LN, Zheng L, Murdock HM, Turvey SE, Hackett SJ, Prestidge T, Hall JM, Cant AJ, Matthews HF, Koref MFS, Simon AK, Korolchuk VI, Lenardo MJ, Hambleton S, Su HC. Dual Proteolytic Pathways Govern Glycolysis and Immune Competence. Cell 2014, 159(7), 1578-1590.
Topf A, Griffin HR, Glen E, Soemedi R, Brown DL, Hall D, Rahman TJ, Eloranta JJ, Jungst C, Stuart AG, O'Sullivan J, Keavney BD, Goodship JA. Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot. PLoS One 2014, 9(8), e95453.
Bigley V, Dickinson R, Jardine L, Milne PPS, Griffin H, Santibanez-Koref M, Haniffa M, Cant A, Hambleton S, Gennery A, Collin M. Human SHP-1 Mutation Causes an Autoinflammatory and Immunodeficiency Phenotype. In: European Society for Immunodeficiencies. 2014, Prague, Czech Republic: Springer.
Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, DeGrassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Muller JS, Evangelista T, Topf A, Abicht A, Huebner A, vonderHagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmuller H. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. Journal of Neuromuscular Diseases 2014, 1(1), 75-90.
Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain 2014, 137(5), 1323-1336.
Pfeffer G, Griffin H, Pyle A, Horvath R, Chinnery PF. Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Brain 2014, 137(4), 1-2.
Herrmann DN, Horvath R, Sowden JE, Gonzales M, Sanchez-Mejias A, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmuller H, Griffin H, Chinnery PE, Lloyd TE, Littleton JT, Zuchner S. Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy. American Journal of Human Genetics 2014, 95(3), 332-339.
Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HCA, Horvath R, Straub V, Bushby K, Lochmuller H, Chinnery PF, Sarkozy A. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. Journal of Neurology, Neurosurgery & Psychiatry 2014, 85(3), 331-338.
Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He LP, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AAM, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies. Journal of the American Medical Association 2014, 312(1), 68-77.
Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer J, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HCA, Horvath R, Straub V, Bushby K, Lochmuller H, Chinnery P, Sarkozy A. A founder mutation in the titin gene is a common cause of myofibrillar myopathy with early respiratory failure. In: 18th International Congress of the World Muscle Society. 2013, California, USA: Elsevier.
Neeve VC, Pyle A, Boczonadi V, Gómez-Durán A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R. Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. Mitochondrion 2013, 13(6), 743-748.
Pyle A, Griffin H, Duff J, Bennett S, Zwolinski S, Smertenko T, Yu-Wai-Man P, Santibanez-Koref M, Horvath R, Chinnery PF. Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization. Journal of Neurogenetics 2013, 27(4), 176-182.
Talim B, Pyle A, Griffin H, Topaloglu H, Tokatli A, Keogh MJ, Santibanez-Koref M, Chinnery PF, Horvath R. Multisystem fatal infantile disease caused by a novel homozygous EARS₂ mutation. Brain 2013, 136(2), e228.
Goodship JA, Hall D, Topf A, Mamasoula C, Griffin H, Rahman TJ, Glen E, Tan H, Doza JP, Relton CL, Bentham J, Bhattacharya S, Cosgrove C, Brook D, Granados-Riveron J, Bu'Lock FA, O'Sullivan J, Stuart AG, Parsons J, Cordell HJ, Keavney B. A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot. Circulation: Cardiovascular Genetics 2012, 5(3), 287-292.
Horvath R, Holinski Feder E, Neeve VC, Pyle A, Griffin H, Ashok D, Foley C, Hudson G, Rautenstrauss B, Nürnberg G, Nürnberg P, Kortler J, Neitzel B, Bäßmann I, Rahman T, Keavney B, Loughlin J, Hambleton S, Schoser B, Lochmüller H, Santibanez Koref M, Chinnery PF. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Movement Disorders 2012, 76(6), 789-793.
Hambleton S, McDonald DO, Morgan NV, Griffin H, Singh-Dang T, Grainger A, Reynard L, Gennery AR, Slatter M, Flood TJ, McKiernan P, Barge D, Abinun M, Hackett S, Loughlin J, Lakey J, Cant AJ, Santibanez-Koref M. Autosomal recessive combines immunodeficiency due to loss of function mutation in Tripeptidyl Peptidase II. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
Pyle A, Griffin H, Yu-Wai-Man P, Duff J, Eglon G, Pickering-Brown S, Santibanez-Korev M, Horvath R, Chinnery PF. Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing. Archives of Neurology 2012, 69(10), 1351-1354.
Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012, 135(6), 1695-1713.
Griffin H, McDonald DO, Singh-Dang T, Dickinson R, Grainger A, Reynard L, Hussain R, Cant AJ, Gennery AR, Abinun M, Flood TJ, Collin MP, Loughlin J, Morgan NV, Santibanez-Koref M, Hambleton S. Whole exome sequencing as a diagnostic tool in primary immunodeficiency. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang XN, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, Collin M. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 2011, 118(10), 2656-2658.
Griffin HR, Topf A, Glen E, Zweier C, Stuart AG, Parsons J, Peart I, Deanfield J, O'Sullivan J, Rauch A, Scambler P, Burn J, Cordell HJ, Keavney B, Goodship JA. 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 variants. Heart 2010, 96(20), 1651-1655.
Griffin HR, Hall DH, Topf A, Eden J, Stuart AG, Parsons J, Peart I, Deanfield JE, O'Sullivan J, Babu-Narayan SV, Gatzoulis MA, Bu'lock FA, Bhattacharya S, Bentham J, Farrall M, Riveron JG, Brook JD, Burn J, Cordell HJ, Goodship JA, Keavney B. Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation. PLoS ONE 2009, 4(3), e4978.