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Sci."},{"key":"10.1016\/j.dnarep.2026.103959_bib70","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1126\/science.1083430","article-title":"Sensing DNA damage through ATRIP recognition of RPA-ssDNA complexes","volume":"300","author":"Zou","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.dnarep.2026.103959_bib71","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1016\/j.cell.2005.12.041","article-title":"TopBP1 activates the ATR-ATRIP complex","volume":"124","author":"Kumagai","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.dnarep.2026.103959_bib72","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1126\/science.1108297","article-title":"ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex","volume":"308","author":"Lee","year":"2005","journal-title":"Science"},{"key":"10.1016\/j.dnarep.2026.103959_bib73","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/nrm3546","article-title":"The ATM protein kinase: regulating the cellular response to genotoxic stress, and more","volume":"14","author":"Shiloh","year":"2013","journal-title":"Nat. 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Biol."},{"key":"10.1016\/j.dnarep.2026.103959_bib84","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1038\/nature06155","article-title":"Recognition of DNA damage by the Rad4 nucleotide excision repair protein","volume":"449","author":"Min","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.dnarep.2026.103959_bib85","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1073\/pnas.012473199","article-title":"Translocation of Cockayne syndrome group A protein to the nuclear matrix: possible relevance to transcription-coupled DNA repair","volume":"99","author":"Kamiuchi","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.dnarep.2026.103959_bib86","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1016\/j.molcel.2009.09.035","article-title":"Two-step recognition of DNA damage for mammalian nucleotide excision repair: Directional binding of the XPC complex and DNA strand scanning","volume":"36","author":"Sugasawa","year":"2009","journal-title":"Mol. Cell."},{"key":"10.1016\/j.dnarep.2026.103959_bib87","doi-asserted-by":"crossref","first-page":"2598","DOI":"10.1101\/gad.12.16.2598","article-title":"DNA-binding polarity of human replication protein A positions nucleases in nucleotide excision repair","volume":"12","author":"de Laat","year":"1998","journal-title":"Genes. Dev."},{"key":"10.1016\/j.dnarep.2026.103959_bib88","first-page":"a012609","article-title":"O. D. Sch\u00e4rer, Nucleotide excision repair in eukaryotes","volume":"5","year":"2013","journal-title":"Cold Spring Harb. Perspect. 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Rare Dis."},{"key":"10.1016\/j.dnarep.2026.103959_bib96","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/S0092-8674(00)80086-0","article-title":"Atm-deficient mice: a paradigm of ataxia telangiectasia","volume":"86","author":"Barlow","year":"1996","journal-title":"Cell"},{"key":"10.1016\/j.dnarep.2026.103959_bib97","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/S0092-8674(00)81547-0","article-title":"The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder","volume":"99","author":"Stewart","year":"1999","journal-title":"Cell"},{"key":"10.1016\/j.dnarep.2026.103959_bib98","doi-asserted-by":"crossref","first-page":"2155","DOI":"10.1093\/hmg\/ddh221","article-title":"MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder","volume":"13","author":"Delia","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.dnarep.2026.103959_bib99","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1093\/hmg\/ddi027","article-title":"Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder","volume":"14","author":"Fernet","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.dnarep.2026.103959_bib100","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/mdc3.13110","article-title":"Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia-Like Disorders","volume":"8","author":"Raslan","year":"2021","journal-title":"Mov. Disord. Clin. Pract."},{"key":"10.1016\/j.dnarep.2026.103959_bib101","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/549","article-title":"Positional cloning of the gene for Nijmegen breakage syndrome","volume":"19","author":"Matsuura","year":"1998","journal-title":"Nat. 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Rare Dis."},{"key":"10.1016\/j.dnarep.2026.103959_bib105","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1136\/jmg.2005.035287","article-title":"Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability","volume":"43","author":"Seemanova","year":"2006","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.dnarep.2026.103959_bib106","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/ng.526","article-title":"Mutations in PNKP cause microcephaly, seizures and defects in DNA repair","volume":"42","author":"Shen","year":"2010","journal-title":"Nat. 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Invest."},{"key":"10.1016\/j.dnarep.2026.103959_bib110","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/sj.cdd.4400806","article-title":"Elevated DNA double strand breaks and apoptosis in the CNS of scid mutant mice","volume":"8","author":"Vemuri","year":"2001","journal-title":"Cell. Death Differ."},{"key":"10.1016\/j.dnarep.2026.103959_bib111","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1016\/S1097-2765(01)00408-7","article-title":"DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency","volume":"8","author":"Driscoll","year":"2001","journal-title":"Mol. Cell."},{"key":"10.1016\/j.dnarep.2026.103959_bib112","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1002\/eji.200535401","article-title":"Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV","volume":"36","author":"Buck","year":"2006","journal-title":"Eur. J. 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Genet."},{"key":"10.1016\/j.dnarep.2026.103959_bib119","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2023.112342","article-title":"XLF\/Cernunnos loss impairs mouse brain development by altering symmetric proliferative divisions of neural progenitors","volume":"42","author":"Bery","year":"2023","journal-title":"Cell. Rep."},{"key":"10.1016\/j.dnarep.2026.103959_bib120","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1038\/ng1001-184","article-title":"Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene","volume":"29","author":"Date","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.dnarep.2026.103959_bib121","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ng1001-189","article-title":"The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT\/Zn-finger protein aprataxin","volume":"29","author":"Moreira","year":"2001","journal-title":"Nat. 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J. Hum. Genet."},{"key":"10.1016\/j.dnarep.2026.103959_bib131","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S0921-8777(97)00031-1","article-title":"Heritable genetic alterations in a xeroderma pigmentosum group G\/Cockayne syndrome pedigree","volume":"385","author":"Okinaka","year":"1997","journal-title":"Mutat. Res."},{"key":"10.1016\/j.dnarep.2026.103959_bib132","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/gim.2015.110","article-title":"The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care","volume":"18","author":"Wilson","year":"2016","journal-title":"Genet. Med."},{"key":"10.1016\/j.dnarep.2026.103959_bib133","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.arr.2016.08.002","article-title":"Cockayne syndrome: Clinical features, model systems and pathways","volume":"33","author":"Karikkineth","year":"2017","journal-title":"Ageing Res. 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