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Joseph Christopher

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Author Correction: Complex de novo structural variants are an underestimated cause of rare disorders - Nature Communications

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By Hyunchul Jung, Tsun-Po Yang, Susan Walker, Petr Danecek, O. Isaac Garcia-Salinas, Matthew Neville Verified, Joseph Christopher, Isidro Cortes-Ciriano, Helen V Firth, Aylwyn Scally, Matthew E Hurles, Peter Campbell, Raheleh Rahbari
| Nature Verified
Correction to: Nature Communications https://doi.org/10.1038/s41467-025-64722-2, published online 3 November 2025 In the version of this article initially published, there was a typographical error in the second paragraph of the Discussion section, where in the text now reading “In addition, 66 of 145 (46%) pathogenic SVs identified in our study were balanced rearrangements,” 66 of 145 (46%) originally read “51 of 151 (34%).” In Fig.
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Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus

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By Terri McVeigh, Kevin Monahan Verified, Joseph Christopher, Nick EJ West
| Journal of Medical Genetics (JMG)
Discussion The term LLS refers to an intermediate state of testing, and not a distinct heritable syndrome per se, and has therefore never been clearly defined despite advances in molecular testing and evaluation. Thus, some authors have suggested that the term may cause confusion and is redundant and should not be used.35 37 38 The consensus in this meeting was that the term ‘u-dMMR’ more accurately reflected intermediate and/or uncertainty in testing for dMMR cancers.
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