Australian Government. National Strategic Action Plan for Rare Disease. 2020. Available from: https://www.health.gov.au/sites/default/files/documents/2020/03/national-strategic-action-plan-for-rare-diseases.pdf. Accessed 16 Aug 2022.
Molster C, Urwin D, Di Pietro L, Fookes M, Petrie D, van der Laan S, et al. Survey of healthcare experiences of Australian adults living with rare diseases. Orphanet J Rare Dis. 2016;11:30.
Article PubMed PubMed Central Google Scholar
Dye DE, Brameld KJ, Maxwell S, Goldblatt J, Bower C, Leonard H, et al. The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: a population-based study. Public Health Genomics. 2011;14:153–61.
Article CAS PubMed Google Scholar
Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–73.
Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med. 2016;18:1090–6.
Article CAS PubMed Google Scholar
Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, et al. Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions. JAMA Pediatr. 2017;171:855–62.
Article PubMed PubMed Central Google Scholar
Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019;21:2413–21.
Article PubMed PubMed Central Google Scholar
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312:1870–9.
Article CAS PubMed PubMed Central Google Scholar
Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014;312:1880–7.
Article PubMed PubMed Central Google Scholar
Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, et al. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016;18:696–704.
Article CAS PubMed Google Scholar
Burdick KJ, Cogan JD, Rives LC, Robertson AK, Koziura ME, Brokamp E, et al. Limitations of exome sequencing in detecting rare and undiagnosed diseases. Am J Med Genet A. 2020;182:1400–6.
Article CAS PubMed PubMed Central Google Scholar
Ewans LJ, Schofield D, Shrestha R, Zhu Y, Gayevskiy V, Ying K, et al. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. Genet Med. 2018;20:1564–74.
Wright CF, McRae JF, Clayton S, Gallone G, Aitken S, FitzGerald TW, et al. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. Genet Med. 2018;20:1216–23.
Article PubMed PubMed Central Google Scholar
Nambot S, Thevenon J, Kuentz P, Duffourd Y, Tisserant E, Bruel A-L, et al. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. Genet Med. 2018;20:645–54.
Article CAS PubMed Google Scholar
Costain G, Walker S, Marano M, Veenma D, Snell M, Curtis M, et al. Genome sequencing as a diagnostic test in children with unexplained medical complexity. JAMA Netw Open. 2020;3:e2018109.
Article PubMed PubMed Central Google Scholar
Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, et al. Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness. Genet Med. 2019;21:173–80.
Article CAS PubMed Google Scholar
Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, et al. Effect of genetic diagnosis on patients with previously undiagnosed disease. N Engl J Med. 2018;379:2131–9.
Article CAS PubMed PubMed Central Google Scholar
Gahl WA, Tifft CJ. The NIH undiagnosed diseases program: lessons learned. JAMA. 2011;305:1904–5.
Article CAS PubMed Google Scholar
Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, et al. The NIH undiagnosed diseases program: insights into rare diseases. Genet Med. 2012;14:51–9.
Article CAS PubMed Google Scholar
Taruscio D, Baynam G, Cederroth H, Groft SC, Klee EW, Kosaki K, et al. The undiagnosed diseases network international: five years and more! Mol Genet Metab. 2020;129:243–54.
Article CAS PubMed Google Scholar
Lochmüller H, Torrent i Farnell J, Le Cam Y, Jonker AH, Lau LP, Baynam G, et al. The international rare diseases research consortium: policies and guidelines to maximize impact. Eur J Hum Genet. 2017;25:1293–302.
Article PubMed PubMed Central Google Scholar
Cloney T, Gallacher L, Pais LS, Tan NB, Yeung A, Stark Z, et al. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program. J Med Genet. 2022;59:748–58.
Benson KA, White M, Allen NM, Byrne S, Carton R, Comerford E, et al. A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. Eur J Hum Genet. 2020;28:1066–77.
Article PubMed PubMed Central Google Scholar
Zacher P, Mayer T, Brandhoff F, Bartolomaeus T, Le Duc D, Finzel M, et al. The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals. Genet Med. 2021;23:1492–7.
Article CAS PubMed PubMed Central Google Scholar
Walsh M, West K, Taylor JA, Thompson BA, Hopkins A, Sexton A, et al. Real world outcomes and implementation pathways of exome sequencing in an adult genetic department. Genet Med. 2022;24:1536–44.
Article CAS PubMed Google Scholar
Minardi R, Licchetta L, Baroni MC, Pippucci T, Stipa C, Mostacci B, et al. Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: it is never too late. Clin Genet. 2020;98:477–85.
Article CAS PubMed Google Scholar
Eratne D, Schneider A, Lynch E, Martyn M, Velakoulis D, Fahey M, et al. The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective. J Neurol Sci. 2021;420:117260.
Article CAS PubMed Google Scholar
Schuermans N, Hemelsoet D, Terryn W, Steyaert S, Van Coster R, Coucke PJ, et al. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA). Orphanet J Rare Dis. 2022;17:210.
Article PubMed PubMed Central Google Scholar
Salvatore M, Polizzi A, De Stefano MC, Floridia G, Baldovino S, Roccatello D, et al. Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network. Ital J Pediatr. 2020;46:130.
Article PubMed PubMed Central Google Scholar
Gahl WA, Wise AL, Ashley EA. The undiagnosed diseases network of the national institutes of health: a national extension. JAMA. 2015;314:1797–8.
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