Wojcik MH, Reuter CM, Marwaha S, et al. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions. American journal of human genetics. 2023;110(8):1229-1248. doi:10.1016/j.ajhg.2023.06.009
Publications
Sanchis-Juan A, Megy K, Stephens J, et al. Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders. American journal of human genetics. 2023;110(8):1343-1355. doi:10.1016/j.ajhg.2023.07.007
de Miguel FJ, Gentile C, Feng WW, et al. Mammalian SWI/SNF chromatin remodeling complexes promote tyrosine kinase inhibitor resistance in EGFR-mutant lung cancer. Cancer cell. 2023. doi:10.1016/j.ccell.2023.07.005
Sadhuka S, Fridman D, Berger B, Cho H. Assessing transcriptomic reidentification risks using discriminative sequence models. Genome research. 2023. doi:10.1101/gr.277699.123
Oguzie JU, Petros BA, Oluniyi PE, et al. Metagenomic surveillance uncovers diverse and novel viral taxa in febrile patients from Nigeria. Nature communications. 2023;14(1):4693. doi:10.1038/s41467-023-40247-4
Cabana-DomÃnguez J, Llonga N, Arribas L, et al. Transcriptomic risk scores for attention deficit/hyperactivity disorder. Molecular psychiatry. 2023. doi:10.1038/s41380-023-02200-1
Wang L, Trasanidis N, Wu T, et al. Dictys: dynamic gene regulatory network dissects developmental continuum with single-cell multiomics. Nature methods. 2023. doi:10.1038/s41592-023-01971-3
De Rop F V, Hulselmans G, Flerin C, et al. Systematic benchmarking of single-cell ATAC-sequencing protocols. Nature biotechnology. 2023. doi:10.1038/s41587-023-01881-x
Julkunen V, Schwarz C, Kalapudas J, et al. A FinnGen pilot clinical recall study for Alzheimer’s disease. Scientific reports. 2023;13(1):12641. doi:10.1038/s41598-023-39835-7
Liu B, Carlson RJ, Pires IS, et al. Human STING is a proton channel. Science (New York, N.Y.). 2023;381(6657):508-514. doi:10.1126/science.adf8974