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Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care.
McDermott JH, Mahaveer A, James RA, Booth N, Turner M, Harvey KE, Miele G, Beaman GM, Stoddard DC, Tricker K, Corry RJ, Garlick J, Ainsworth S, Beevers T, Bruce IA, Body R, Ulph F, MacLeod R, Roberts PL, Wilson PM, Newman WG; PALOH Study Team. McDermott JH, et al. Among authors: beaman gm. JAMA Pediatr. 2022 May 1;176(5):486-492. doi: 10.1001/jamapediatrics.2022.0187. JAMA Pediatr. 2022. PMID: 35311942 Free PMC article.
Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome.
Pei Y, Beaman GM, Mansfield D, Clayton-Smith J, Stewart M, Newman WG. Pei Y, et al. Among authors: beaman gm. Eur J Med Genet. 2019 Jun;62(6):103536. doi: 10.1016/j.ejmg.2018.09.003. Epub 2018 Sep 11. Eur J Med Genet. 2019. PMID: 30217753
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.
Madhu R, Beaman GM, Chandler KE, O'Sullivan J, Urquhart JE, Khan N, Martindale E, Briggs TA, Clayton-Smith J, Higgs J, Batra G, Kerr B, Woolf AS, Newman WG. Madhu R, et al. Among authors: beaman gm. Eur J Med Genet. 2020 Sep;63(9):103974. doi: 10.1016/j.ejmg.2020.103974. Epub 2020 Jun 12. Eur J Med Genet. 2020. PMID: 32534991 Free PMC article.
Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.
Harkness JR, Beaman GM, Teik KW, Sidhu S, Sayer JA, Cordell HJ, Thomas HB, Wood K, Stuart HM, Woolf AS, Newman WG. Harkness JR, et al. Among authors: beaman gm. Kidney Int Rep. 2020 Jul 14;5(10):1823-1827. doi: 10.1016/j.ekir.2020.07.001. eCollection 2020 Oct. Kidney Int Rep. 2020. PMID: 33102976 Free PMC article. No abstract available.
Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Wood KA, Ellingford JM, Thomas HB; Genomics UK Research Consortium; Douzgou S, Beaman GM, Hobson E, Prescott K, O'Keefe RT, Newman WG. Wood KA, et al. Among authors: beaman gm. Clin Genet. 2022 Feb;101(2):255-259. doi: 10.1111/cge.14082. Epub 2021 Nov 5. Clin Genet. 2022. PMID: 34713892
31 results