Publications

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

Tallgren A, Kager L, O’Grady G, et al. Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease. Frontiers in neuroscience. 2023;17:1123327. doi:10.3389/fnins.2023.1123327

Chronotype Polygenic Score and the Timing and Quality of Workplace Cafeteria Purchases: Secondary Analysis of the ChooseWell 365 Randomized Controlled Trial.

Dashti HS, Alimenti K, Levy DE, et al. Chronotype Polygenic Score and the Timing and Quality of Workplace Cafeteria Purchases: Secondary Analysis of the ChooseWell 365 Randomized Controlled Trial. Current developments in nutrition. 2023;7(3):100048. doi:10.1016/j.cdnut.2023.100048

Editorial: The advances in proteomics and targeted therapy of malignant brain tumours.

Chen A, An Z. Editorial: The advances in proteomics and targeted therapy of malignant brain tumours. Frontiers in oncology. 2023;13:1195847. doi:10.3389/fonc.2023.1195847

The CYP24A1 gene variant rs2762943 is associated with low serum 1,25-dihydroxyvitamin D levels in multiple sclerosis patients.

Malhotra S, Midaglia L, Chuquisana O, et al. The CYP24A1 gene variant rs2762943 is associated with low serum 1,25-dihydroxyvitamin D levels in multiple sclerosis patients. European journal of neurology. 2023. doi:10.1111/ene.15866

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Byrne AB, Arts P, Ha TT, et al. Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature medicine. 2023;29(1):180-189. doi:10.1038/s41591-022-02142-1

Data-driven historical characterization of epilepsy-associated genes.

Macnee M, Pérez-Palma E, López-Rivera JA, et al. Data-driven historical characterization of epilepsy-associated genes. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2023;42:82-87. doi:10.1016/j.ejpn.2022.12.005

Exercise preserves physical fitness during aging through AMPK and mitochondrial dynamics.

Campos JC, Bozi LHM, Krum B, et al. Exercise preserves physical fitness during aging through AMPK and mitochondrial dynamics. Proceedings of the National Academy of Sciences of the United States of America. 2023;120(2):e2204750120. doi:10.1073/pnas.2204750120

Monosynaptic restriction of the anterograde herpes simplex virus strain H129 for neural circuit tracing.

Fischer KB, Collins HK, Pang Y, et al. Monosynaptic restriction of the anterograde herpes simplex virus strain H129 for neural circuit tracing. The Journal of comparative neurology. 2023;531(5):584-595. doi:10.1002/cne.25451

A transcription factor atlas of directed differentiation.

Joung J, Ma S, Tay T, et al. A transcription factor atlas of directed differentiation. Cell. 2023;186(1):209-229.e26. doi:10.1016/j.cell.2022.11.026

Use of serial smartphone-based assessments to characterize diverse neuropsychiatric symptom trajectories in a large trauma survivor cohort.

Beaudoin FL, An X, Basu A, et al. Use of serial smartphone-based assessments to characterize diverse neuropsychiatric symptom trajectories in a large trauma survivor cohort. Translational psychiatry. 2023;13(1):4. doi:10.1038/s41398-022-02289-y

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Publications

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