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Page 1
Speech and Language Development, Hearing, and Feeding in Patients With Genetically Confirmed Crouzon Syndrome With Acanthosis Nigricans: A 36-Year Longitudinal Retrospective Review of Patients at the Oxford Craniofacial Unit.
Kilcoyne S, Scully P, Overton S, Brockbank S, Thomas GPL, Ching RC, Jayamohan J, Ramsden JD, Jones J, Wilkie AOM, Johnson D. Kilcoyne S, et al. Among authors: wilkie aom. J Craniofac Surg. 2024 Mar 20. doi: 10.1097/SCS.0000000000010085. Online ahead of print. J Craniofac Surg. 2024. PMID: 38506523
Erratum: "Measurement of Novel, Drinking Water-Associated PFAS in Blood from Adults and Children in Wilmington, North Carolina".
Kotlarz N, McCord J, Collier D, Lea CS, Strynar M, Lindstrom AB, Wilkie AA, Islam JY, Matney K, Tarte P, Polera ME, Burdette K, DeWitt J, May K, Smart RC, Knappe DRU, Hoppin JA. Kotlarz N, et al. Among authors: wilkie aa. Environ Health Perspect. 2024 Feb;132(2):29002. doi: 10.1289/EHP13341. Epub 2024 Feb 15. Environ Health Perspect. 2024. PMID: 38358997 Free PMC article. No abstract available.
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
Miller KA, Cruz Walma DA, Pinkas DM, Tooze RS, Bufton JC, Richardson W, Manning CE, Hunt AE, Cros J, Hartill V, Parker MJ, McGowan SJ, Twigg SRF, Chalk R, Staunton D, Johnson D, Wilkie AOM, Bullock AN. Miller KA, et al. Among authors: wilkie aom. J Med Genet. 2024 Apr 19;61(5):490-501. doi: 10.1136/jmg-2023-109531. J Med Genet. 2024. PMID: 38296633 Free PMC article.
Population screening requires robust evidence-genomics is no exception.
Turnbull C, Firth HV, Wilkie AOM, Newman W, Raymond FL, Tomlinson I, Lachmann R, Wright CF, Wordsworth S, George A, McCartney M, Lucassen A. Turnbull C, et al. Among authors: wilkie aom. Lancet. 2024 Feb 10;403(10426):583-586. doi: 10.1016/S0140-6736(23)02295-X. Epub 2023 Dec 6. Lancet. 2024. PMID: 38070525 Review. No abstract available.
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
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: wilkie aom. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR, Yu J, Pei Y, Cheng EWY, Taylor Tavares AL, Walker WT, Thomas NS, Kamath A, Ibitoye R, Josifova D, Wilsdon A, Ross A, Calder AD, Offiah AC, Wilkie AOM; Genomics England Research Consortium; Taylor JC, Pagnamenta AT. Moore AR, et al. Among authors: wilkie aom. J Med Genet. 2023 Nov 27;60(12):1235-1244. doi: 10.1136/jmg-2023-109362. J Med Genet. 2023. PMID: 37558402 Free PMC article.
376 results