Griffin, Helen

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Boczonadi, V., Müller, J. S., Pyle, A., Munkley, J., Dor, T., Quartararo, J., Ferrero, I., Karcagi, V., Giunta, M., Polvikoski, T., et al. (2014) · Nature Communications

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 149

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Burns, D. T., Donkervoort, S., Müller, J. S., Knierim, E., Bharucha-Goebel, D., Faqeih, E. A., Bell, S. K., AlFaifi, A. Y., Monies, D., Millan, F., et al. (2018) · The American Journal of Human Genetics

RNA Research and SplicingGenomics and Rare Diseases

Cited by 88

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

Bartsakoulia, M., Pyle, A., Troncoso-Chandía, D., Vial-Brizzi, J., Paz-Fiblas, M. V., Duff, J., Griffin, H., Boczonadi, V., Lochmüller, H., Kleinle, S., et al. (2018) · Human Molecular Genetics

Mitochondrial Function and PathologyMuscle Physiology and Disorders

Cited by 68

A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot

Goodship, J. A., Hall, D., Topf, A., Mamasoula, C., Griffin, H., Rahman, T. J., Glen, E., Tan, H., Palomino Doza, J., Relton, C. L., et al. (2012) · Circulation: Cardiovascular Genetics

Congenital Heart Disease StudiesCongenital heart defects research

Cited by 38

Chromosomal numerical aberrations and rare copy number variation in patients with inflammatory Bowel disease

Dirvanskyte, P., Gurram, B., Bolton, C., Warner, N., Jones, K. D. J., Griffin, H. R., Genomics England Research Consortium, Park, J. Y., Keller, K.-M., Gilmour, K. C., et al. (2023) · Journal of Crohn s and Colitis

Inflammatory Bowel DiseaseGenomic variations and chromosomal abnormalities

Cited by 6