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. 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; 14:2040.
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. 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; 12:1034.
. 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.
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. 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.
. Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework. Clinical Cancer Research. 2025; 31:2426-2440.
. Loss of Cpt1a results in elevated glucose-fueled mitochondrial oxidative phosphorylation and defective hematopoietic stem cells. The Journal of Clinical Investigation. 2025; 135:e184069.
. Loss of Cpt1a Results in Elevated Mitochondrial Reactive Oxygen Species from Glucose-Fueled Mitochondrial Oxidative Phosphorylation and Defective Hematopoietic Stem Cells. Blood. 2024; 144:4035.
. 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.
. CPT1a Controls the Function of Long-Term Hematopoietic Stem Cells By Regulating the Balance between Fatty Acid Oxidation and Oxphos in Mitochondria. Blood. 2023; 142:4089.
. 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.
. 3079 – CPT1A MAINTAINS LONG-TERM HEMATOPOIETIC STEM CELLS BY REGULATING THE BALANCE BETWEEN FATTY ACID OXIDATION AND OXPHOS IN MITOCHONDRIA. Experimental Hematology. 2023; 124:s89.
. 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; 14:2040.
. 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; 12:1034.
. 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.