ORCA
Online Research @ CardiffÂ
Browse by Current Cardiff authors
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Up a levelNumber of items: 2.
Jezkova, Jana, McClatchey, Martin A., Shaw, Sophie, Vaughan, Rhys, Halstead, Joseph, Clarke, Angus  ORCID: https://orcid.org/0000-0002-1200-9286, Giles, Peter ORCID: https://orcid.org/0000-0003-3143-6854, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312, Sampson, Julian ORCID: https://orcid.org/0000-0002-2902-2348 and Fry, Andrew ORCID: https://orcid.org/0000-0001-9778-6924
2026.
Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project.
European Journal of Human Genetics
10.1038/s41431-026-02234-3
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McClatchey, Martin A., du Toit, Zachary D., Vaughan, Rhys, Whatley, Sharon D., Martins, Sara, Hegde, Shivaram, Naude, Johann te Water, Thomas, David H., Griffiths, David F., Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286 and Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924
2020.
Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation.
European Journal of Medical Genetics
63
(9)
, 103972.
10.1016/j.ejmg.2020.103972
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