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Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.
Hocking LJ, Andrews C, Armstrong C, Ansari M, Baty D, Berg J, Bradley T, Clark C, Diamond A, Doherty J, Lampe A, McGowan R, Moore DJ, O'Sullivan D, Purvis A, Santoyo-Lopez J, Westwood P, Abbott M, Williams N; Scottish Genomes Partnership; Aitman TJ, Miedzybrodzka Z. Hocking LJ, et al. Among authors: mcgowan r. Eur J Hum Genet. 2023 Feb;31(2):231-238. doi: 10.1038/s41431-022-01226-3. Epub 2022 Dec 6. Eur J Hum Genet. 2023. PMID: 36474026 Free PMC article.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Ibnouf Hussein R, Lindsay SJ, Lalloo F, Banos-Pinero B, Evans D, Mallin L, Waite A, Evans J, Newman A, Allen Z, Perez-Becerril C, Ryan G, Hart R, Taylor J, Bedenham T, Clement E, Blair E, Hay E, Forzano F, Higgs J, Canham N, Majumdar A, McEntagart M, Lahiri N, Stewart H, Smithson S, Calpena E, Jackson A, Banka S, Titheradge H, McGowan R, Rankin J, Shaw-Smith C, Evans DG, Burghel GJ, Smith MJ, Anderson E, Madhu R, Firth H, Ellard S, Brennan P, Anderson C, Taupin D, Rogers MT, Cook JA, Durkie M, East JE, Fowler D, Wilson L, Igbokwe R, Gardham A, Tomlinson I, Baralle D, Uhlig HH, Taylor JC. Pagnamenta AT, et al. Among authors: mcgowan r. Am J Hum Genet. 2024 May 16:S0002-9297(24)00159-9. doi: 10.1016/j.ajhg.2024.04.018. Online ahead of print. Am J Hum Genet. 2024. PMID: 38776926
SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.
Tobias ES, Lucas-Herald AK, Sagar D, Montezano AC, Rios FJ, De Lucca Camargo L, Hamilton G, Gazdagh G, Diver LA, Williams N, Herzyk P, Touyz RM, Greenfield A, McGowan R, Ahmed SF. Tobias ES, et al. Among authors: mcgowan r. Endocrine. 2024 May;84(2):345-349. doi: 10.1007/s12020-024-03701-x. Epub 2024 Feb 24. Endocrine. 2024. PMID: 38400880
Gonadal Function in Boys with Bilateral Undescended Testes.
Lucas-Herald AK, Alkanhal KI, Caney E, Malik I, Alimussina M, McNeilly JD, Bradnock T, Lee B, Steven M, Flett M, O'Toole S, McGowan R, Faisal Ahmed S. Lucas-Herald AK, et al. Among authors: mcgowan r. J Endocr Soc. 2023 Dec 12;8(2):bvad153. doi: 10.1210/jendso/bvad153. eCollection 2024 Jan 5. J Endocr Soc. 2023. PMID: 38205164 Free PMC article.
The Lived Experience of Pediatric Gene Therapy: A Scoping Review.
Kimberly L, Hunt C, Beaverson K, James E, Bateman-House A, McGowan R, DeSante-Bertkau J. Kimberly L, et al. Among authors: mcgowan r. Hum Gene Ther. 2023 Dec;34(23-24):1180-1189. doi: 10.1089/hum.2023.157. Hum Gene Ther. 2023. PMID: 37964764 Review.
275 results