PUBLICATIONS
2025
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs
Proceedings of the National Academy of Sciences
·
17 Jul 2025
·
doi:10.1073/pnas.2509622122
Clonal Hematopoiesis Mutations Increase Risk of Alzheimer’s Disease with
APOE
ε3/ε3 Genotype
bioRxiv
·
21 May 2025
·
doi:10.1101/2025.05.19.654981
Advances in single-cell DNA sequencing enable insights into human somatic mosaicism
Nature Reviews Genetics
·
25 Apr 2025
·
doi:10.1038/s41576-025-00832-3
Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disorders
bioRxiv
·
05 Mar 2025
·
doi:10.1101/2025.03.03.641186
2024
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease
Acta Neuropathologica
·
24 Jul 2024
·
doi:10.1007/s00401-024-02774-2
Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes
Cell
·
01 Apr 2024
·
doi:10.1016/j.cell.2024.02.025
Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer’s disease microglia
bioRxiv
·
04 Jan 2024
·
doi:10.1101/2024.01.03.574078
2023
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations
bioRxiv
·
01 Dec 2023
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doi:10.1101/2023.11.30.569436
2022
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements
Nature Genetics
·
26 Sep 2022
·
doi:10.1038/s41588-022-01180-2
Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity
Nature Aging
·
11 Aug 2022
·
doi:10.1038/s43587-022-00261-5
Somatic genomic changes in single Alzheimer’s disease neurons
Nature
·
20 Apr 2022
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doi:10.1038/s41586-022-04640-1
2021
Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain
Cancer Discovery
·
13 Aug 2021
·
doi:10.1158/2159-8290.cd-21-0245
2016
Label-free fluorimetric detection of CEA using carbon dots derived from tomato juice
Biosensors and Bioelectronics
·
01 Dec 2016
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doi:10.1016/j.bios.2016.06.043
Micro-CT Imaging Reveals Mekk3 Heterozygosity Prevents Cerebral Cavernous Malformations in Ccm2-Deficient Mice
PLOS ONE
·
11 Aug 2016
·
doi:10.1371/journal.pone.0160833
Cerebral cavernous malformations arise from endothelial gain of MEKK3–KLF2/4 signalling
Nature
·
30 Mar 2016
·
doi:10.1038/nature17178
2015
The Cerebral Cavernous Malformation Pathway Controls Cardiac Development via Regulation of Endocardial MEKK3 Signaling and KLF Expression
Developmental Cell
·
01 Jan 2015
·
doi:10.1016/j.devcel.2014.12.009
Papain-templated Cu nanoclusters: assaying and exhibiting dramatic antibacterial activity cooperating with H2O2
Nanoscale
·
01 Jan 2015
·
doi:10.1039/c5nr05362e
2014
Stable isotope dilution liquid chromatography/mass spectrometry analysis of cellular and tissue medium‐ and long‐chain acyl‐coenzyme A thioesters
Rapid Communications in Mass Spectrometry
·
09 Jul 2014
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doi:10.1002/rcm.6958
2009
Plk1-mediated Phosphorylation of Topors Regulates p53 Stability
Journal of Biological Chemistry
·
01 Jul 2009
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doi:10.1074/jbc.c109.001560