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Page 1
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.
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
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. Smith CEL, et al. J Med Genet. 2024 Apr 8:jmg-2023-109728. doi: 10.1136/jmg-2023-109728. Online ahead of print. J Med Genet. 2024. PMID: 38458752 Free article.
237 results