Identification of new RAD51D-regulating microRNAs that also emerge as potent inhibitors of the Fanconi anemia/homologous recombination pathways. Human Molecular Genetics. 2022; 31:4241-4254.
.Active DNA damage response signaling initiates and maintains meiotic sex chromosome inactivation. Nature Communications. 2022; 13:7212.
.Head and Neck Cancer Susceptibility and Metabolism in Fanconi Anemia. Cancers. 2022; 14.
.Meiotic sex chromosome inactivation and the XY body: a phase separation hypothesis. Cellular and Molecular Life Sciences. 2022; 79:18.
.RNF8 is not required for histone-to-protamine exchange in spermiogenesis†. Biology of Reproduction. 2021; 105:1154-1159.
.Understanding BRCA2 Function as a Tumor Suppressor Based on Domain-Specific Activities in DNA Damage Responses. Genes. 2021; 12.
.The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response. Human Mutation. 2021; 42:150-163.
.The Initiation of Meiotic Sex Chromosome Inactivation Sequesters DNA Damage Signaling from Autosomes in Mouse Spermatogenesis. Current Biology. 2020; 30:408-420.e5.
.NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation. Acta Neuropathologica. 2020; 139:157-174.
.CRISPR-Cas9 fusion to dominant-negative 53BP1 enhances HDR and inhibits NHEJ specifically at Cas9 target sites. Nature Communications. 2019; 10:2866.
.PALB2 (partner and localizer of BRCA2). Atlas of genetics and cytogenetics in oncology and haematology. 2018; 22:484-490.
.DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment. Journal of medical genetics. 2017; 54:721-731.
.Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications. Cell Reports. 2016; 17:1141-1157.
.Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene. Journal of medical genetics. 2016; 53:672-680.
.ATF7IP2/MCAF2 directs H3K9 methylation and meiotic gene regulation in the male germline. Genes and Development. 2024; 38:115-130.
.Loss of phosphatase CTDNEP1 potentiates aggressive medulloblastoma by triggering MYC amplification and genomic instability. Nature Communications. 2023; 14:762.
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. CPT1a Controls the Function of Long-Term Hematopoietic Stem Cells By Regulating the Balance between Fatty Acid Oxidation and Oxphos in Mitochondria. Blood.A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations. Human Molecular Genetics. 2023; 32:1836-1849.
.Identification of new RAD51D-regulating microRNAs that also emerge as potent inhibitors of the Fanconi anemia/homologous recombination pathways. Human Molecular Genetics. 2022; 31:4241-4254.
.Active DNA damage response signaling initiates and maintains meiotic sex chromosome inactivation. Nature Communications. 2022; 13:7212.
.Head and Neck Cancer Susceptibility and Metabolism in Fanconi Anemia. Cancers. 2022; 14.
.Meiotic sex chromosome inactivation and the XY body: a phase separation hypothesis. Cellular and Molecular Life Sciences. 2022; 79:18.
.RNF8 is not required for histone-to-protamine exchange in spermiogenesis†. Biology of Reproduction. 2021; 105:1154-1159.
.Understanding BRCA2 Function as a Tumor Suppressor Based on Domain-Specific Activities in DNA Damage Responses. Genes. 2021; 12.
.The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response. Human Mutation. 2021; 42:150-163.
.The Initiation of Meiotic Sex Chromosome Inactivation Sequesters DNA Damage Signaling from Autosomes in Mouse Spermatogenesis. Current Biology. 2020; 30:408-420.e5.
.NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation. Acta Neuropathologica. 2020; 139:157-174.
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