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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.
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Pagnamenta AT, Jackson A, Perveen R, Beaman G, Petts G, Gupta A, Hyder Z, Chung BH, Kan AS, Cheung KW, Kerstjens-Frederikse WS, Abbott KM; Genomics England Research Consortium; Elpeleg O, Taylor JC, Banka S, Ta-Shma A. Pagnamenta AT, et al. Among authors: beaman g. Clin Genet. 2022 Jan;101(1):127-133. doi: 10.1111/cge.14071. Epub 2021 Oct 11. Clin Genet. 2022. PMID: 34612517
DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.
Urquhart JE, Beaman G, Byers H, Roberts NA, Chervinsky E, O'Sullivan J, Pilz D, Fry A, Williams SG, Bhaskar SS, Khayat M, Simanovsky N, Shachar IB, Shalev SA, Newman WG. Urquhart JE, et al. Among authors: beaman g. Clin Genet. 2016 Jun;89(6):724-7. doi: 10.1111/cge.12734. Epub 2016 Feb 3. Clin Genet. 2016. PMID: 26757254
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C, Thomas HB, Lord J, Wai HA, Arno G, Beaman G, Sergouniotis P, Gomes-Silva B, Campbell C, Gossan N, Hardcastle C, Webb K, O'Callaghan C, Hirst RA, Ramsden S, Jones E, Clayton-Smith J, Webster AR; Genomics England Research Consortium; Douglas AGL, O'Keefe RT, Newman WG, Baralle D, Black GCM, Ellingford JM. Rowlands C, et al. Among authors: beaman g. Sci Rep. 2021 Oct 18;11(1):20607. doi: 10.1038/s41598-021-99747-2. Sci Rep. 2021. PMID: 34663891 Free PMC article.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W; Genomics England Research Consortium; Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG. Hochberg I, et al. Among authors: beaman gm. Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. Am J Hum Genet. 2021. PMID: 34715011 Free PMC article.
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
33 results