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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Public engagement with genomics.
Middleton A, Adams A, Aidid H, Atutornu J, Boraschi D, Borra J, Bircan T, Burch C, Costa A, Dickinson A, Enticknap A, Galloway C, Gale F, Garlick E, Haydon E, Henriques S, Mitchell M, Milne R, Monaghan J, Morley KI, Muella Santos M, Olivares Boldu L, Olumogba F, Orviss K, Parry V, Patch C, Robarts L, Shingles S, Smidt C, Tomlin B, Parkinson S. Middleton A, et al. Among authors: patch c. Wellcome Open Res. 2023 Sep 18;8:310. doi: 10.12688/wellcomeopenres.19473.2. eCollection 2023. Wellcome Open Res. 2023. PMID: 37928209 Free PMC article. Review.
The legacy of language: What we say, and what people hear, when we talk about genomics.
Middleton A, Costa A, Milne R, Patch C, Robarts L, Tomlin B, Danson M, Henriques S, Atutornu J, Aidid U, Boraschi D, Galloway C, Yazmir K, Pettit S, Harcourt T, Connolly A, Li A, Cala J, Lake S, Borra J, Parry V. Middleton A, et al. Among authors: patch c. HGG Adv. 2023 Aug 31;4(4):100231. doi: 10.1016/j.xhgg.2023.100231. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37869565 Free PMC article.
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy.
Olinger E, Wilson IJ, Orr S, Barroso-Gil M, Neatu R; Genomics England Research Consortium; Atan D, Sayer JA. Olinger E, et al. Genet Med Open. 2024 Feb 29;2:101834. doi: 10.1016/j.gimo.2024.101834. eCollection 2024. Genet Med Open. 2024. PMID: 39669628 Free PMC article.
Origins and impact of extrachromosomal DNA.
Bailey C, Pich O, Thol K, Watkins TBK, Luebeck J, Rowan A, Stavrou G, Weiser NE, Dameracharla B, Bentham R, Lu WT, Kittel J, Yang SYC, Howitt BE, Sharma N, Litovchenko M, Salgado R, Hung KL, Cornish AJ, Moore DA, Houlston RS, Bafna V, Chang HY, Nik-Zainal S, Kanu N, McGranahan N; Genomics England Consortium; Flanagan AM, Mischel PS, Jamal-Hanjani M, Swanton C. Bailey C, et al. Nature. 2024 Nov;635(8037):193-200. doi: 10.1038/s41586-024-08107-3. Epub 2024 Nov 6. Nature. 2024. PMID: 39506150 Free PMC article.
243 results