Shearer, R. F., Iconomou, M., Watts, C. K. W. & Saunders, D. N. Functional roles of the E3 ubiquitin ligase UBR5 in cancer. Mol. Cancer Res. 13, 1523–1532 (2015).
Plank, M. et al. An analysis and validation pipeline for large-scale RNAi-based screens. Sci. Rep. 3, 1076 (2013).
Buckley, S. M. et al. Regulation of pluripotency and cellular reprogramming by the ubiquitin-proteasome system. Cell Stem Cell 11, 783–798 (2012).
Saunders, D. N. et al. Edd, the murine hyperplastic disc gene, is essential for yolk sac vascularization and chorioallantoic fusion. Mol. Cell Biol. 24, 7225–7234 (2004).
Lek, M. et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291 (2016).
Trost, B. et al. Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell 185, 4409–4427.e18 (2022).
Viggiano, M. et al. Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates. NPJ Genom. Med. 9, 21 (2024).
Fu, J. M. et al. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat. Genet. 54, 1320–1331 (2022).
Iossifov, I. et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature 515, 216–221 (2014).
Krumm, N. et al. Excess of rare, inherited truncating mutations in autism. Nat. Genet. 47, 582–588 (2015).
Kaplanis, J. et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature 586, 757–762 (2020).
Sabeh, P. et al. Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability. Am. J. Hum. Genet. 112, 75–86 (2025).
Kuechler, A. et al. Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. Am. J. Med. Genet. A 155A, 1857–1864 (2011).
Kuroda, Y. et al. Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy. Am. J. Med. Genet. A 164A, 2104–2108 (2014).
Firth, H. V. et al. DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources. Am. J. Hum. Genet. 84, 524–533 (2009).
MacDonald, J. R., Ziman, R., Yuen, R. K. C., Feuk, L. & Scherer, S. W. The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res. 42, D986–D992 (2014).
Trost, B. et al. A comprehensive workflow for read depth-based identification of copy-number variation from whole-genome sequence data. Am. J. Hum. Genet. 102, 142–155 (2018).
Schoenberg, D. R. & Maquat, L. E. Regulation of cytoplasmic mRNA decay. Nat. Rev. Genet. 13, 246–259 (2012).
Schaaf, C. P. et al. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nat. Rev. Genet. 21, 367–376 (2020).
LaCoursiere, C. M. et al. Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 27, 110172 (2024).
Lampersberger, L. et al. Loss of the E3 ubiquitin ligases UBR-5 or HECD-1 restores Caenorhabditis elegans development in the absence of SWI/SNF function. Proc. Natl. Acad. Sci. USA 120, e2217992120 (2023).
Li, C. et al. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am. J. Hum. Genet. 108, 134–147 (2021).
Conroy, J. et al. A novel locus for episodic ataxia: UBR4 the likely candidate. Eur. J. Hum. Genet. 22, 505–510 (2014).
Choi, K.-D. et al. Genetic variants associated with episodic ataxia in Korea. Sci. Rep. 7, 13855 (2017).
Monies, D. et al. Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population. Am. J. Hum. Genet. 104, 1182–1201 (2019).
Fischbach, G. D. & Lord, C. The Simons Simplex Collection: a resource for identification of autism genetic risk factors. Neuron 68, 192–195 (2010).
The SPARK Consortium. SPARK: a US cohort of 50,000 families to accelerate autism research. Neuron 97, 488–493 (2018).
Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17, 405–424 (2015).
Comments (0)