van Karnebeek CDM, O’Donnell-Luria A, Baynam G, et al. Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases. Orphanet journal of rare diseases. 2024;19(1):357. doi:10.1186/s13023-024-03361-0.

Ogino S, Ugai T. The global epidemic of early-onset cancer: Nature, nurture, or both?. Annals of oncology : official journal of the European Society for Medical Oncology. 2024. doi:10.1016/j.annonc.2024.08.2336.

Ogino S, Ugai T. The global epidemic of early-onset cancer: Nature, nurture, or both?. Annals of oncology : official journal of the European Society for Medical Oncology. 2024. doi:10.1016/j.annonc.2024.08.2336.

Ogino S, Ugai T. The global epidemic of early-onset cancer: Nature, nurture, or both?. Annals of oncology : official journal of the European Society for Medical Oncology. 2024. doi:10.1016/j.annonc.2024.08.2336.

Ogino S, Ugai T. The global epidemic of early-onset cancer: Nature, nurture, or both?. Annals of oncology : official journal of the European Society for Medical Oncology. 2024. doi:10.1016/j.annonc.2024.08.2336.

Prapiadou S, Mayerhofer E, Georgakis MK, et al. Exploring synaptic pathways in traumatic brain injury: a cross-phenotype genomics approach. Journal of neurotrauma. 2024. doi:10.1089/neu.2024.0153.

Prapiadou S, Mayerhofer E, Georgakis MK, et al. Exploring synaptic pathways in traumatic brain injury: a cross-phenotype genomics approach. Journal of neurotrauma. 2024. doi:10.1089/neu.2024.0153.

Stenton SL, Campagna M, Philippakis A, O’Donnell-Luria A, Gelb MH. First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing. Genetics in medicine open. 2023;1(1). doi:10.1016/j.gimo.2023.100821.

Lord J, Oquendo CJ, Wai HA, et al. Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants. Genetics in medicine : official journal of the American College of Medical Genetics. 2024:101249. doi:10.1016/j.gim.2024.101249.

Djeddi S, Fernandez-Salinas D, Huang GX, et al. Rhinovirus infection of airway epithelial cells uncovers the non-ciliated subset as a likely driver of genetic risk to childhood-onset asthma. Cell genomics. 2024:100636. doi:10.1016/j.xgen.2024.100636.