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Helen Griffin

Newcastle University

95

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Congenital nephrotic syndrome in IL7Rα-SCID - a rare feature of materno-foetal graft-versus-host disease.

2021 The Journal of Allergy and Clinical Immunology: In Practice
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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).

2021 European Journal of Human Genetics
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A Whole-School Approach to Gender Equality: Rationale and Country Contexts

2021
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Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.

2020 The EMBO Journal
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Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

2020 medRxiv
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RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels.

2020
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Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution

2019 Mitochondrion
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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)

2019 Genetics in Medicine
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A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

2018 Human Molecular Genetics
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Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

2018 Genetics in Medicine
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