Identification of new RAD51D-regulating microRNAs that also emerge as potent inhibitors of the Fanconi anemia/homologous recombination pathways. Human Molecular Genetics. 2022; 31(24):4241-4254.
Active DNA damage response signaling initiates and maintains meiotic sex chromosome inactivation. Nature Communications. 2022; 13(1):7212.
Head and Neck Cancer Susceptibility and Metabolism in Fanconi Anemia. Cancers. 2022; 14(8).
Meiotic sex chromosome inactivation and the XY body: a phase separation hypothesis. Cellular and Molecular Life Sciences. 2021; 79(1):18.
RNF8 is not required for histone-to-protamine exchange in spermiogenesis†. Biology of Reproduction. 2021; 105(5):1154-1159.
Understanding BRCA2 Function as a Tumor Suppressor Based on Domain-Specific Activities in DNA Damage Responses. Genes. 2021; 12(7).
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(2):150-163.
The Initiation of Meiotic Sex Chromosome Inactivation Sequesters DNA Damage Signaling from Autosomes in Mouse Spermatogenesis. Current Biology. 2020; 30(3):408-420.e5.
NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation. Acta Neuropathologica. 2020; 139(1):157-174.
CRISPR-Cas9 fusion to dominant-negative 53BP1 enhances HDR and inhibits NHEJ specifically at Cas9 target sites. Nature Communications. 2019; 10(1):2866.
PALB2 (partner and localizer of BRCA2). Atlas of Genetics and Cytogenetics in Oncology and Haematology. 2018; 22(12):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(11):721-731.
Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications. Cell reports. 2016; 17(4):1141-1157.
Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene. Journal of Medical Genetics. 2016; 53(10):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(12):2426-2440.
Loss of Cpt1a results in elevated glucose-fueled mitochondrial oxidative phosphorylation and defective hematopoietic stem cells. Journal of Clinical Investigation. 2025; 135(5).
Loss of Cpt1a Results in Elevated Mitochondrial Reactive Oxygen Species from Glucose-Fueled Mitochondrial Oxidative Phosphorylation and Defective Hematopoietic Stem Cells. Blood. 2024; 144(Supplement 1):4035-4035.
ATF7IP2/MCAF2 directs H3K9 methylation and meiotic gene regulation in the male germline. Genes & Development. 2024; 38(3-4):115-130.
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(Supplement 1):4089.
A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations. Human Molecular Genetics. 2023; 32(11):1836-1849.
Loss of phosphatase CTDNEP1 potentiates aggressive medulloblastoma by triggering MYC amplification and genomic instability. Nature Communications. 2023; 14(1):762.
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(24):4241-4254.
Active DNA damage response signaling initiates and maintains meiotic sex chromosome inactivation. Nature Communications. 2022; 13(1):7212.
Head and Neck Cancer Susceptibility and Metabolism in Fanconi Anemia. Cancers. 2022; 14(8).
Meiotic sex chromosome inactivation and the XY body: a phase separation hypothesis. Cellular and Molecular Life Sciences. 2021; 79(1):18.
RNF8 is not required for histone-to-protamine exchange in spermiogenesis†. Biology of Reproduction. 2021; 105(5):1154-1159.
Understanding BRCA2 Function as a Tumor Suppressor Based on Domain-Specific Activities in DNA Damage Responses. Genes. 2021; 12(7).
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(2):150-163.