Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiencyDICKINSON, Rachel Emma; GRIFFIN, Helen; PAGAN, Sarah et al.Blood. 2011, Vol 118, Num 10, pp 2656-2658, issn 0006-4971, 3 p.Article

A New Phenotype of Brain Iron Accumulation with Dystonia, Optic Atrophy, and Peripheral NeuropathyHORVATH, Rita; HOLINSKI-FEDER, Elke; NURNBERG, Peter et al.Movement disorders. 2012, Vol 27, Num 6, pp 789-793, issn 0885-3185, 5 p.Article

G-map's application of the Good Lives Model to adolescent males who sexually harm: A case studyWYLIE, Laura Anne; GRIFFIN, Helen Louise.Journal of sexual aggression. 2013, Vol 19, Num 3, pp 345-356, issn 1355-2600, 12 p.Article

Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome SequencingPYLE, Angela; GRIFFIN, Helen; YU-WAI-MAN, Patrick et al.Archives of neurology (Chicago). 2012, Vol 69, Num 10, pp 1351-1354, issn 0003-9942, 4 p.Article

Glutaraldehyde-fixed bovine jugular vein as a substitute for the pulmonary valve in the Ross operationCORNO, Antonio F; HURNI, Michel; GRIFFIN, Helen et al.Journal of thoracic and cardiovascular surgery. 2001, Vol 122, Num 3, pp 493-494, issn 0022-5223Article

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophyNICOLE, Sophie; CHAOUCH, Amina; COX, Daniel et al.Brain. 2014, Vol 137, pp 2429-2443, issn 0006-8950, 15 p., 9Article

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenancePFEFFER, Gerald; GORMAN, Gráinne S; PYLE, Angela et al.Brain. 2014, Vol 137, pp 1323-1336, issn 0006-8950, 14 p., 5Article

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex DeficienciesTAYLOR, Robert W; PYLE, Angela; YARHAM, John W et al.JAMA, the journal of the American Medical Association. 2014, Vol 312, Num 1, pp 68-77, issn 0098-7484, 10 p.Article

A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of FallotGOODSHIP, Judith A; HALL, Darroch; BENTHAM, Jamie et al.Circulation. Cardiovascular genetics (Print). 2012, Vol 5, Num 3, pp 287-292, issn 1942-325X, 6 p.Article

Predicting sexual re-offending in a UK sample of adolescents with intellectual disabilitiesLOUISE GRIFFIN, Helen; VETTOR, Shannon.Journal of sexual aggression. 2012, Vol 18, Num 1, pp 64-80, issn 1355-2600, 17 p.Article

The development and initial testing of the AIM2 framework to assess risk and strengths in young people who sexually offendGRIFFIN, Helen Louise; BEECH, Anthony; PRINT, Bobbie et al.Journal of sexual aggression. 2008, Vol 14, Num 3, pp 211-225, issn 1355-2600, 15 p.Article

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 variantsGRIFFIN, Helen R; TÖPF, Ana; SCAMBLER, Peter et al.Heart (London 1996). 2010, Vol 96, Num 20, pp 1651-1655, issn 1355-6037, 5 p.Article