Publications

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Stenton SL, Laricchia K, Lake NJ, et al. Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. medRxiv : the preprint server for health sciences. 2024. doi:10.1101/2024.12.22.24319370

An Expanded Registry of Candidate cis-Regulatory Elements for Studying Transcriptional Regulation.

Moore JE, Pratt HE, Fan K, et al. An Expanded Registry of Candidate cis-Regulatory Elements for Studying Transcriptional Regulation. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.12.26.629296

Large-scale proteomic and genomic analysis identify plasma proteins influencing human brain structure and Alzheimer’s disease risk

Ayubcha C, Sun BB, Ge T, Chen CY. Large-scale proteomic and genomic analysis identify plasma proteins influencing human brain structure and Alzheimer’s disease risk. Alzheimer’s & dementia : the journal of the Alzheimer’s Association. 2024;20 Suppl 8(Suppl 8):e094880. doi:10.1002/alz.094880

Target trial emulation analysis linking dampened circadian rest-activity rhythms and dementia

Sun H, Yang J, Vialle RA, et al. Target trial emulation analysis linking dampened circadian rest-activity rhythms and dementia. Alzheimer’s & dementia : the journal of the Alzheimer’s Association. 2024;20 Suppl 7(Suppl 7):e092574. doi:10.1002/alz.092574

Public Health.

Jeong S, Pascual-Leone A, Hsu YH. Public Health. Alzheimer’s & dementia : the journal of the Alzheimer’s Association. 2024;20 Suppl 7(Suppl 7):e090794. doi:10.1002/alz.090794

A Prospective Study of Long-Term Red Meat Intake, Risk of Dementia, and Cognitive Function in US Adults

Li Y, Li Y, Gu X, et al. A Prospective Study of Long-Term Red Meat Intake, Risk of Dementia, and Cognitive Function in US Adults. Alzheimer’s & dementia : the journal of the Alzheimer’s Association. 2024;20 Suppl 7(Suppl 7):e088556. doi:10.1002/alz.088556

The relationship between amyloid-β, plasma/brain GFAP, and neocortical tau: a Mendelian randomization study

Yang HS, Kivisäkk P, Viera AMR, et al. The relationship between amyloid-β, plasma/brain GFAP, and neocortical tau: a Mendelian randomization study. Alzheimer’s & dementia : the journal of the Alzheimer’s Association. 2024;20 Suppl 2(Suppl 2):e091415. doi:10.1002/alz.091415

A field resource for the glioma cerebrospinal fluid proteome: impacts of resection and location on biomarker discovery.

Riviere-Cazaux C, Graser CJ, Warrington AE, et al. A field resource for the glioma cerebrospinal fluid proteome: impacts of resection and location on biomarker discovery. Neuro-oncology. 2024. doi:10.1093/neuonc/noae277

Association between somatic microsatellite instability, hypermutation status, and specific T cell subsets in colorectal cancer tumors.

Thomas CE, Takashima Y, Wesselink E, et al. Association between somatic microsatellite instability, hypermutation status, and specific T cell subsets in colorectal cancer tumors. Frontiers in immunology. 2024;15:1505896. doi:10.3389/fimmu.2024.1505896

Enhancing Clinical Applications by Evaluation of Sensitivity and Specificity in Whole Exome Sequencing.

Moon Y, Hong CH, Kim YH, et al. Enhancing Clinical Applications by Evaluation of Sensitivity and Specificity in Whole Exome Sequencing. International journal of molecular sciences. 2024;25(24). doi:10.3390/ijms252413250