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Molecular and Cellular Biology|January 5, 2002
Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletionsMaria Kraakman-van der Zwet, Wilhelmina J I Overkamp, Rebecca E E van Lange, et al.Communications Medicine|September 10, 2024
Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophyYorrick R J Jaspers, Hemmo A F Yska, Caroline G Bergner, et al.Nature|December 22, 2006
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axisLaura J Niedernhofer, George A Garinis, Anja Raams, et al.Plos Genetics|October 10, 2014
Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiencySander Barnhoorn, Lieneke M Uittenboogaard, Dick Jaarsma, et al.Cancer Cell|August 15, 2006
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeriaJaan-Olle Andressoo, James R Mitchell, Jan de Wit, et al.Human Molecular Genetics|October 4, 2017
Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissueArjan F Theil, Imke K Mandemaker, Emile van den Akker, et al.Journal of Inherited Metabolic Disease|February 9, 2026
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked AdrenoleukodystrophyTroy C Lund, Kelly Miettunen, Yorrick R J Jaspers, et al.American Journal of Human Genetics|January 13, 2005
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophyKazuhiko Nakabayashi, Daniela Amann, Yan Ren, et al.American Journal of Human Genetics|April 30, 2013
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemiaMassimo Bogliolo, Beatrice Schuster, Chantal Stoepker, et al.Journal of Inherited Metabolic Disease|October 18, 2022
Sex-specific newborn screening for X-linked adrenoleukodystrophyMonique Albersen, Samantha L van der Beek, Inge M E Dijkstra, et al.Pageof 10