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Stegmann, J. D., Kalanithy, J. C., Dworschak, G. C., Ishorst, N., Mingardo, E., Lopes, F. M., Ho, Y. M., Grote, P., Lindenberg, T. T., Yilmaz, Ö., Channab, K., Seltzsam, S., Shril, S., Hildebrandt, F., Boschann, F., Heinen, A., Jolly, A., Myers, K., … McBride, K. (2024). Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. Npj Genomic Medicine, 9(1). https://doi.org/10.1038/s41525-024-00398-9

Morimoto, M., Bhambhani, V., Gazzaz, N., Davids, M., Sathiyaseelan, P., Macnamara, E. F., Lange, J., Lehman, A., Zerfas, P. M., Murphy, J. L., Acosta, M. T., Wang, C., Alderman, E., Adam, M., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., … Ashley, E. A. (2023). Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. Npj Genomic Medicine, 8(1). https://doi.org/10.1038/s41525-022-00343-8

Slavotinek, A., Rego, S., Sahin-Hodoglugil, N., Kvale, M., Lianoglou, B., Yip, T., Hoban, H., Outram, S., Anguiano, B., Chen, F., Michelson, J., Cilio, R. M., Curry, C., Gallagher, R. C., Gardner, M., Kuperman, R., Mendelsohn, B., Sherr, E., Shieh, J., … Norton, M. E. (2023). Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. Npj Genomic Medicine, 8(1). https://doi.org/10.1038/s41525-023-00353-0

Zhu, N., LeDuc, C. A., Fennoy, I., Laferrère, B., Doege, C. A., Shen, Y., Chung, W. K., & Leibel, R. L. (2023). Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity. Npj Genomic Medicine, 8(1). https://doi.org/10.1038/s41525-023-00376-7

Silverman, E. K., Kim, A. Y., Make, B. J., Regan, E. A., Morrow, J. D., Hersh, C. P., O’Brien, J., Crapo, J. D., Hansel, N. N., Criner, G., Flenaugh, E. L., Conrad, D., Casaburi, R., Bowler, R. P., Hanania, N. A., Barr, R. G., Bhatt, S. P., Sciurba, F. C., Anzueto, A., … O’Rourke, P. P. (2023). Returning incidentally discovered Hepatitis C RNA-seq results to COPDGene study participants. Npj Genomic Medicine, 8(1). https://doi.org/10.1038/s41525-023-00379-4

Austin-Tse, C. A., Jobanputra, V., Perry, D. L., Bick, D., Taft, R. J., Venner, E., Gibbs, R. A., Young, T., Barnett, S., Belmont, J. W., Boczek, N., Chowdhury, S., Ellsworth, K. A., Guha, S., Kulkarni, S., Marcou, C., Meng, L., Murdock, D. R., … Rehman, A. U. (2022). Best practices for the interpretation and reporting of clinical whole genome sequencing. Npj Genomic Medicine, 7(1). https://doi.org/10.1038/s41525-022-00295-z

Rodriguez, D. A., Yang, J., Durante, M. A., Shoushtari, A. N., Moschos, S. J., Wrzeszczynski, K. O., Harbour, J. W., & Carvajal, R. D. (2021). Multiregional genetic evolution of metastatic uveal melanoma. Npj Genomic Medicine, 6(1). https://doi.org/10.1038/s41525-021-00233-5