Hildebrandt C, Genetti CA, Logvinenko T, et al. Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy. Neurology. Genetics. 2025;11(4):e200277. doi:10.1212/NXG.0000000000200277
Publications
Webb BD, Jurgens JA, Narisu N, et al. Systematic phenotype and genotype characterization of Moebius syndrome. Genetics in medicine open. 2025;3:103437. doi:10.1016/j.gimo.2025.103437
Chitra U, Dan S, Krienen F, Raphael BJ. GASTON-Mix: a unified model of spatial gradients and domains using spatial mixture-of-experts. Bioinformatics (Oxford, England). 2025;41(Supplement_1):i523-i532. doi:10.1093/bioinformatics/btaf254
Hu G, Gold J, Chitra U, Joshi S, Raphael BJ. Anomaly detection in spatial transcriptomics via spatially localized density comparison. Bioinformatics (Oxford, England). 2025;41(Supplement_1):i493-i501. doi:10.1093/bioinformatics/btaf242
Wongboonsin J, Gupta A, Quinlan C. How to Suspect and Approach Patients With Genetic Glomerular Disease. Seminars in nephrology. 2025;45(4):151653. doi:10.1016/j.semnephrol.2025.151653
Walker RG, Kato T, Ben Driss L, et al. Activated GDF11/8 subforms predict cardiovascular events and mortality in humans. Nature communications. 2025;16(1):6534. doi:10.1038/s41467-025-61815-w
Kassim SH, Urnov F, Musunuru K, et al. Platform solutions for commercial challenges to expanding patient access and making gene editing sustainable. Nature biotechnology. 2025;43(7):1047-1049. doi:10.1038/s41587-025-02744-3
Brezani V, Joshi RS, Ortega-Ribera M, et al. Ethanol consumption aggravates amyloid pathology and neuroinflammation in Alzheimer’s disease associated with inflammasome activation and ASC speck propagation. Journal of neuroinflammation. 2025;22(1):183. doi:10.1186/s12974-025-03501-8
Johari M, Folland C, Saito Y, et al. Missense variants in cause myo-tubulinopathies. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.06.26.25330266
Sutton KJ, Gervis J, Jatoi M, et al. Dietary Intake Mendelian Randomization: Assessment and Development of Methods for Instrument Selection and Robust Inference. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.06.26.25330002