Donkervoort S, Mohassel P, O’Leary M, et al. Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology. 2024. doi:10.1002/acn3.51983
Publications
Aaramaa HK, Mars N, Helminen M, et al. Risk of cardiovascular comorbidities before and after the onset of rheumatic diseases. Seminars in arthritis and rheumatism. 2024;65:152382. doi:10.1016/j.semarthrit.2024.152382
Shepard N, Baez-Nieto D, Iqbal S, et al. Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders. Scientific reports. 2024;14(1):2798. doi:10.1038/s41598-024-53102-3
Jacobs N, Griffin GK. Throwing IL-1β for a loop. Science immunology. 2024;9(92):eado2158. doi:10.1126/sciimmunol.ado2158
Patel AG, Ashenberg O, Collins NB, et al. A spatial cell atlas of neuroblastoma reveals developmental, epigenetic and spatial axis of tumor heterogeneity. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.01.07.574538
Baker JS, Qu E, Mancuso CP, Tripp D, Conwill A, Lieberman TD. Highly-resolved within-species dynamics in the human facial skin microbiome. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.01.10.575018
Yifei L, Jinjie Y, Beri NR, Roth LG, Ethel C, E GB. Germinal Center Cytokines Driven Epigenetic Control of Epstein-Barr Virus Latency Gene Expression. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.01.02.573986
Ling E, Nemesh J, Goldman M, et al. Concerted neuron-astrocyte gene expression declines in aging and schizophrenia. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.01.07.574148
Liu Y, Reed SC, Lo C, et al. FinaleMe: Predicting DNA methylation by the fragmentation patterns of plasma cell-free DNA. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.01.02.573710
Akshay A, Besic M, Kuhn A, et al. Machine Learning-based Classification of transcriptome Signatures of non-ulcerative Bladder Pain Syndrome. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.01.08.574189