Publications

Oxytetracycline and its Non-Antibiotic Derivative DOT Protect Midbrain Dopamine Neurons from Iron-Driven Oxidative Damage.

Fernandes TAA, Tourville A, Ciss I, et al. Oxytetracycline and its Non-Antibiotic Derivative DOT Protect Midbrain Dopamine Neurons from Iron-Driven Oxidative Damage. Neurotoxicity research. 2025;43(2):16. doi:10.1007/s12640-025-00742-6

Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk.

Georgakis MK, Malik R, Bounkari OE, et al. Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk. Genome medicine. 2025;17(1):27. doi:10.1186/s13073-025-01456-2

Binding domain mutations provide insight into CTCF's relationship with chromatin and its contribution to gene regulation.

Do C, Jiang G, Cova G, et al. Binding domain mutations provide insight into CTCF’s relationship with chromatin and its contribution to gene regulation. Cell genomics. 2025:100813. doi:10.1016/j.xgen.2025.100813

Interpreting MYH11 Copy Number Variation in Thoracic Aortic Aneurysm and Dissection: Insights From the Misannotation of Variants in Clinical Genetic Tests.

Schwartzman WE, Hujoel MLA, Channaoui N, Lee-Kim V, Loh PR, Gupta RM. Interpreting MYH11 Copy Number Variation in Thoracic Aortic Aneurysm and Dissection: Insights From the Misannotation of Variants in Clinical Genetic Tests. JACC. Case reports. 2025;30(6 Pt 1):102973. doi:10.1016/j.jaccas.2024.102973

Reliability and Validity of Self-Reported Risk Factors for Stroke and Dementia.

Tack RWP, Senff JR, Kimball TN, et al. Reliability and Validity of Self-Reported Risk Factors for Stroke and Dementia. Journal of the American Heart Association. 2025:e038730. doi:10.1161/JAHA.124.038730

Clinical progression of clonal hematopoiesis is determined by a combination of mutation timing, fitness, and clonal structure.

Latorre-Crespo E, Robertson NA, Kosebent G, et al. Clinical progression of clonal hematopoiesis is determined by a combination of mutation timing, fitness, and clonal structure. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.02.28.640879

A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction.

Manian K V, Ludwig CH, Zhao Y, et al. A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.02.27.640335

JUNIPER: Reconstructing Transmission Events from Next-Generation Sequencing Data at Scale.

Specht I, Moreno GK, Brock-Fisher T, et al. JUNIPER: Reconstructing Transmission Events from Next-Generation Sequencing Data at Scale. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.03.02.25323192

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.

Rekerle L, Danis D, Rehburg F, et al. GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.03.05.25323315

SingleBrain: A Meta-Analysis of Single-Nucleus eQTLs Linking Genetic Risk to Brain Disorders.

Jang B, Bp K, Tokolyi A, et al. SingleBrain: A Meta-Analysis of Single-Nucleus eQTLs Linking Genetic Risk to Brain Disorders. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.03.06.25323424

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Publications

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