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Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.
Ismail V, Zachariassen LG, Godwin A, Sahakian M, Ellard S, Stals KL, Baple E, Brown KT, Foulds N, Wheway G, Parker MO, Lyngby SM, Pedersen MG, Desir J, Bayat A, Musgaard M, Guille M, Kristensen AS, Baralle D. Ismail V, et al. Among authors: wheway g. Am J Hum Genet. 2022 Jul 7;109(7):1217-1241. doi: 10.1016/j.ajhg.2022.05.009. Epub 2022 Jun 7. Am J Hum Genet. 2022. PMID: 35675825 Free PMC article.
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
Macken WL, Godwin A, Wheway G, Stals K, Nazlamova L, Ellard S, Alfares A, Aloraini T, AlSubaie L, Alfadhel M, Alajaji S, Wai HA, Self J, Douglas AGL, Kao AP, Guille M, Baralle D. Macken WL, et al. Among authors: wheway g. Genome Med. 2021 Feb 25;13(1):34. doi: 10.1186/s13073-021-00850-w. Genome Med. 2021. PMID: 33632302 Free PMC article.
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium; Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E. Vig A, et al. Among authors: wheway g. Genet Med. 2020 Dec;22(12):2041-2051. doi: 10.1038/s41436-020-0915-1. Epub 2020 Aug 5. Genet Med. 2020. PMID: 32753734 Free PMC article.
A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection.
Blume C, Jackson CL, Spalluto CM, Legebeke J, Nazlamova L, Conforti F, Perotin JM, Frank M, Butler J, Crispin M, Coles J, Thompson J, Ridley RA, Dean LSN, Loxham M, Reikine S, Azim A, Tariq K, Johnston DA, Skipp PJ, Djukanovic R, Baralle D, McCormick CJ, Davies DE, Lucas JS, Wheway G, Mennella V. Blume C, et al. Among authors: wheway g. Nat Genet. 2021 Feb;53(2):205-214. doi: 10.1038/s41588-020-00759-x. Epub 2021 Jan 11. Nat Genet. 2021. PMID: 33432184
52 results