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Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG, Bryen SJ, Bahlo M, Cairns A, Chao KR, Corbett A, Davis MR, Ganesh VS, Ghaoui R, Jones KJ, Kornberg AJ, Lek M, Liang C, MacArthur DG, Oates EC, O'Donnell-Luria A, O'Grady GL, Osei-Owusu IA, Rafehi H, Reddel SW, Roxburgh RH, Ryan MM, Sandaradura SA, Scott LW, Valkanas E, Weisburd B, Young H, Evesson FJ, Waddell LB, Cooper ST. Marchant RG, et al. Among authors: bryen sj. Ann Clin Transl Neurol. 2024 May;11(5):1250-1266. doi: 10.1002/acn3.52041. Epub 2024 Mar 27. Ann Clin Transl Neurol. 2024. PMID: 38544359 Free PMC article.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
Wojcik MH, Lemire G, Zaki MS, Wissman M, Win W, White S, Weisburd B, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Okur V, Oja KT, O'Leary M, O'Heir E, Morel C, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gazda HT, Ganesh VS, Ganapathy M, Gallacher L, Fu J, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bonnemann C, Beggs AH, Baxter SM, Agrawal PB, Talkowski M, Austin-Tse C, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. Among authors: bryen sj. medRxiv [Preprint]. 2023 Aug 13:2023.08.08.23293829. doi: 10.1101/2023.08.08.23293829. medRxiv. 2023. PMID: 38328047 Free PMC article. Preprint.
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre.
Wong WK, Bryen SJ, Bournazos A, Yasa J, Lemckert F, Bommireddipall S, Waddell LB, Menezes MP, Webster R, Davis M, Liang C, Cooper ST, Jones KJ. Wong WK, et al. Among authors: bryen sj. Neuromuscul Disord. 2022 Sep;32(9):707-717. doi: 10.1016/j.nmd.2022.07.401. Epub 2022 Jul 26. Neuromuscul Disord. 2022. PMID: 35948506
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: bryen sj. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.
Waddell LB, Bryen SJ, Cummings BB, Bournazos A, Evesson FJ, Joshi H, Marshall JL, Tukiainen T, Valkanas E, Weisburd B, Sadedin S, Davis MR, Faiz F, Gooding R, Sandaradura SA, O'Grady GL, Tchan MC, Mowat DR, Oates EC, Farrar MA, Sampaio H, Ma A, Neas K, Wang MX, Charlton A, Chan C, Kenwright DN, Graf N, Arbuckle S, Clarke NF, MacArthur DG, Jones KJ, Lek M, Cooper ST. Waddell LB, et al. Among authors: bryen sj. Neurol Genet. 2021 Jan 29;7(1):e554. doi: 10.1212/NXG.0000000000000554. eCollection 2021 Feb. Neurol Genet. 2021. PMID: 33977140 Free PMC article.
15 results