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Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation.
Ramakrishnan R, Mallinson C, Hardy S, Broughan J, Blyth M, Melis G, Franklin C, Hill M, Mellis R, Wu WH, Allen S, Chitty LS, Knight M; EXPRESS Clinical Outcomes Group. Ramakrishnan R, et al. Front Genet. 2024 Nov 6;15:1485306. doi: 10.3389/fgene.2024.1485306. eCollection 2024. Front Genet. 2024. PMID: 39568676 Free PMC article.
Prediction by Young Autistic Children from Visual and Spoken Input.
Mathée-Scott J, Prescott KE, Pomper R, Saffran J, Weismer SE. Mathée-Scott J, et al. Among authors: prescott ke. J Autism Dev Disord. 2024 Oct 3. doi: 10.1007/s10803-024-06568-z. Online ahead of print. J Autism Dev Disord. 2024. PMID: 39361065
Biomechanical considerations for optimising subretinal injections.
L'Abbate D, Prescott K, Geraghty B, Kearns VR, Steel DHW. L'Abbate D, et al. Among authors: prescott k. Surv Ophthalmol. 2024 Sep-Oct;69(5):722-732. doi: 10.1016/j.survophthal.2024.05.004. Epub 2024 May 24. Surv Ophthalmol. 2024. PMID: 38797394 Free article. Review.
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
114 results