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Page 1
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Shoemark A, Griffin H, Wheway G, Hogg C, Lucas JS; Genomics England Research Consortium; Camps C, Taylor J, Carroll M, Loebinger MR, Chalmers JD, Morris-Rosendahl D, Mitchison HM, De Soyza A; Genomics England Research Consortium:; Brown D, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM. Shoemark A, et al. Eur Respir J. 2022 Nov 17;60(5):2200176. doi: 10.1183/13993003.00176-2022. Print 2022 Nov. Eur Respir J. 2022. PMID: 35728977 Free article.
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmüller J, Krenz H, Wöste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H. Wallmeier J, et al. Am J Hum Genet. 2019 Nov 7;105(5):1030-1039. doi: 10.1016/j.ajhg.2019.09.022. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630787 Free PMC article.
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
Fassad MR, Patel MP, Shoemark A, Cullup T, Hayward J, Dixon M, Rogers AV, Ollosson S, Jackson C, Goggin P, Hirst RA, Rutman A, Thompson J, Jenkins L, Aurora P, Moya E, Chetcuti P, O'Callaghan C, Morris-Rosendahl DJ, Watson CM, Wilson R, Carr S, Walker W, Pitno A, Lopes S, Morsy H, Shoman W, Pereira L, Constant C, Loebinger MR, Chung EMK, Kenia P, Rumman N, Fasseeh N, Lucas JS, Hogg C, Mitchison HM. Fassad MR, et al. J Med Genet. 2020 May;57(5):322-330. doi: 10.1136/jmedgenet-2019-106501. Epub 2019 Dec 25. J Med Genet. 2020. PMID: 31879361
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A, Rubbo B, Legendre M, Fassad MR, Haarman EG, Best S, Bon ICM, Brandsma J, Burgel PR, Carlsson G, Carr SB, Carroll M, Edwards M, Escudier E, Honoré I, Hunt D, Jouvion G, Loebinger MR, Maitre B, Morris-Rosendahl D, Papon JF, Parsons CM, Patel MP, Thomas NS, Thouvenin G, Walker WT, Wilson R, Hogg C, Mitchison HM, Lucas JS. Shoemark A, et al. Eur Respir J. 2021 Aug 5;58(2):2002359. doi: 10.1183/13993003.02359-2020. Print 2021 Aug. Eur Respir J. 2021. PMID: 33479112 Free article.
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.
Fleming A, Galey M, Briggs L, Edwards M, Hogg C, John S, Wilkinson S, Quinn E, Rai R, Burgoyne T, Rogers A, Patel MP, Griffin P, Muller S, Carr SB, Loebinger MR, Lucas JS, Shah A, Jose R, Mitchison HM, Shoemark A, Miller DE, Morris-Rosendahl DJ. Fleming A, et al. Among authors: morris rosendahl dj. Eur J Hum Genet. 2024 Sep;32(9):1074-1085. doi: 10.1038/s41431-024-01599-7. Epub 2024 Apr 11. Eur J Hum Genet. 2024. PMID: 38605126 Free PMC article.
The role of genetics and genomics in clinical psychiatry.
Hoehe MR, Morris-Rosendahl DJ. Hoehe MR, et al. Dialogues Clin Neurosci. 2018 Sep;20(3):169-177. doi: 10.31887/DCNS.2018.20.3/mhoehe. Dialogues Clin Neurosci. 2018. PMID: 30581286 Free PMC article. Review.
Determining the genetic contribution in patients with non-syndromic ascending thoracic aortic aneurysms: Correlation with findings from computational pathology.
Salmasi MY, Morris-Rosendahl D, Jarral OA, Rosendahl U, Asimakopoulos G, Raja S, Aragon-Martin JA, Child A, Pepper J, Oo A, Athanasiou T; London Aortic Mechanobiology Working Group. Salmasi MY, et al. Int J Cardiol. 2022 Nov 1;366:1-9. doi: 10.1016/j.ijcard.2022.07.010. Epub 2022 Jul 10. Int J Cardiol. 2022. PMID: 35830949
91 results