McGivern B, Holling T, Sacoto MJG, et al. Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation. HGG advances. 2025:100438. doi:10.1016/j.xhgg.2025.100438
Duy PQ, Mehta NH, Kahle KT. The "microcephalic hydrocephalus" paradox as a paradigm of altered neural stem cell biology. Cerebral cortex (New York, N.Y. : 1991). 2024;34(1). doi:10.1093/cercor/bhad432
Villamor-Payà M, Sanchiz-Calvo M, Smak J, et al. Identification of a mutation in associated with a neurodevelopmental disorder and immunodeficiency. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.08.22.23294267
Evrony GD, Cordero DR, Shen J, et al. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor as the cause of microcephaly-micromelia syndrome. Genome Res. 2017;27(8):1323-1335. doi:10.1101/gr.219899.116
Braun DA, Shril S, Sinha A, et al. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A. 2018;176(11):2460-2465. doi:10.1002/ajmg.a.40489
Myhrvold C, Freije CA, Gootenberg JS, et al. Field-deployable viral diagnostics using CRISPR-Cas13. Science. 2018;360(6387):444-448. doi:10.1126/science.aas8836
Jayaraman D, Bae BI, Walsh CA. The Genetics of Primary Microcephaly. Annu Rev Genomics Hum Genet. 2018;19:177-200. doi:10.1146/annurev-genom-083117-021441
Reynolds JJ, Walker AK, Gilmore EC, Walsh CA, Caldecott KW. Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. Nucleic Acids Res. 2012;40(14):6608-19. doi:10.1093/nar/gks318
Dauber A, Lafranchi SH, Maliga Z, et al. Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. J Clin Endocrinol Metab. 2012;97(11):E2140-51. doi:10.1210/jc.2012-2150
Yang YJ, Baltus AE, Mathew RS, et al. Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. Cell. 2012;151(5):1097-112. doi:10.1016/j.cell.2012.10.043