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Serial Paediatrics Omics Tracking in Myalgic Encephalomyelitis (SPOT-ME): protocol paper for a multidisciplinary, observational study of clinical and biological markers of paediatric myalgic encephalomyelitis/chronic fatigue syndrome in Australian adolescents aged 12-19 years.
Thomas N, Chau T, Tantanis D, Huang K, Scheinberg A, Gooley PR, Josev EK, Knight SJ, Armstrong CW. Thomas N, et al. Among authors: knight sj. BMJ Open. 2024 Dec 10;14(12):e089038. doi: 10.1136/bmjopen-2024-089038. BMJ Open. 2024. PMID: 39658280 Free article.
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.
Maroofian R, Pagnamenta AT, Navabazam A, Schwessinger R, Roberts HE, Lopopolo M, Dehghani M, Vahidi Mehrjardi MY, Haerian A, Soltanianzadeh M, Noori Kooshki MH, Knight SJL, Miller KA, McGowan SJ, Chatron N, Timberlake AT, Melo US, Mundlos S, Buck D, Twigg SRF, Taylor JC, Wilkie AOM, Calpena E. Maroofian R, et al. Among authors: knight sjl. HGG Adv. 2024 Oct 10;5(4):100352. doi: 10.1016/j.xhgg.2024.100352. Epub 2024 Sep 10. HGG Adv. 2024. PMID: 39257002 Free PMC article.
Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening.
Smith HS, Rubanovich CK, Robinson JO, Levchenko AN, Classen SA, Malek J, Buchanan AH, Biesecker B, Brothers KB, Wilfond BS, Rini C, Bloss CS, McGuire AL, Knight SJ. Smith HS, et al. Among authors: knight sj. Genet Med. 2024 Nov;26(11):101240. doi: 10.1016/j.gim.2024.101240. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140259
Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing.
Smith HS, Rubanovich CK, Robinson JO, Levchenko AN, Classen SA, Malek J, Biesecker B, Brothers KB, Wilfond BS, Rini C, Knight SJ, McGuire AL, Bloss CS. Smith HS, et al. Among authors: knight sj. Genet Med. 2024 Aug;26(8):101146. doi: 10.1016/j.gim.2024.101146. Epub 2024 Apr 24. Genet Med. 2024. PMID: 38676451
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: knight sjl. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
245 results