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Mitochondrion|August 12, 2018
Assessing mitochondrial heteroplasmy using next generation sequencing: A note of cautionMauro Santibanez-Koref, Helen Griffin, Douglass M Turnbull, et al.Journal of Neurology|May 11, 2015
Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filteringDaniyal Daud, Helen Griffin, Konstantinos Douroudis, et al.The Journal of Heart Valve Disease|May 10, 2002
Bovine jugular vein as right ventricle-to-pulmonary artery valved conduitAntonio F Corno, Michel Hurni, Helen Griffin, et al.Life Science Alliance|June 13, 2020
RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levelsJuliane S Müller, David T Burns, Helen Griffin, et al.Archives of Neurology|July 4, 2012
Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencingAngela Pyle, Helen Griffin, Patrick Yu-Wai-Man, et al.Journal of Neurogenetics|November 5, 2013
Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridizationAngela Pyle, Helen Griffin, Jennifer Duff, et al.Journal of Clinical Immunology|April 10, 2024
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3Christo Tsilifis, Jarmila Stremenova Spegarova, Ross Good, et al.Neuromuscular Disorders : NMD|April 23, 2015
Phenotypic variability of TRPV4 related neuropathiesTeresinha Evangelista, Boglarka Bansagi, Angela Pyle, et al.European Journal of Human Genetics : EJHG|June 2, 2021
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)Ana Töpf, Angela Pyle, Helen Griffin, et al.Mitochondrion|March 19, 2013
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMTVivienne C M Neeve, Angela Pyle, Veronika Boczonadi, et al.Pageof 6