These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
230 related articles for article (PubMed ID: 37291213)
1. Integrated multi-omics for rapid rare disease diagnosis on a national scale. Lunke S; Bouffler SE; Patel CV; Sandaradura SA; Wilson M; Pinner J; Hunter MF; Barnett CP; Wallis M; Kamien B; Tan TY; Freckmann ML; Chong B; Phelan D; Francis D; Kassahn KS; Ha T; Gao S; Arts P; Jackson MR; Scott HS; Eggers S; Rowley S; Boggs K; Rakonjac A; Brett GR; de Silva MG; Springer A; Ward M; Stallard K; Simons C; Conway T; Halman A; Van Bergen NJ; Sikora T; Semcesen LN; Stroud DA; Compton AG; Thorburn DR; Bell KM; Sadedin S; North KN; Christodoulou J; Stark Z Nat Med; 2023 Jul; 29(7):1681-1691. PubMed ID: 37291213 [TBL] [Abstract][Full Text] [Related]
2. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. ; Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; de Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z JAMA; 2020 Jun; 323(24):2503-2511. PubMed ID: 32573669 [TBL] [Abstract][Full Text] [Related]
3. Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation. McDermott H; Sherlaw-Sturrock C; Baptista J; Hartles-Spencer L; Naik S Eur J Med Genet; 2022 Sep; 65(9):104571. PubMed ID: 35842091 [TBL] [Abstract][Full Text] [Related]
4. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. Bick D; Jones M; Taylor SL; Taft RJ; Belmont J J Med Genet; 2019 Dec; 56(12):783-791. PubMed ID: 31023718 [TBL] [Abstract][Full Text] [Related]
5. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Lee H; Huang AY; Wang LK; Yoon AJ; Renteria G; Eskin A; Signer RH; Dorrani N; Nieves-Rodriguez S; Wan J; Douine ED; Woods JD; Dell'Angelica EC; Fogel BL; Martin MG; Butte MJ; Parker NH; Wang RT; Shieh PB; Wong DA; Gallant N; Singh KE; Tavyev Asher YJ; Sinsheimer JS; Krakow D; Loo SK; Allard P; Papp JC; ; Palmer CGS; Martinez-Agosto JA; Nelson SF Genet Med; 2020 Mar; 22(3):490-499. PubMed ID: 31607746 [TBL] [Abstract][Full Text] [Related]
6. Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless. Wallis M; Bodek SD; Munro J; Rafehi H; Bennett MF; Ye Z; Schneider A; Gardiner F; Valente G; Murdoch E; Uebergang E; Hunter J; Stutterd C; Huq A; Salmon L; Scheffer I; Eratne D; Meyn S; Fong CY; John T; Mullen S; White SM; Brown NJ; McGillivray G; Chen J; Richmond C; Hughes A; Krzesinski E; Fennell A; Chambers B; Santoreneos R; Le Fevre A; Hildebrand MS; Bahlo M; Christodoulou J; Delatycki M; Berkovic SF Orphanet J Rare Dis; 2024 Aug; 19(1):288. PubMed ID: 39095811 [TBL] [Abstract][Full Text] [Related]
7. Diagnostic utility of rapid sequencing in critically ill infants: a systematic review and meta-analysis. Xiao F; Yan K; Tang M; Ji X; Hu L; Yang L; Zhou W Expert Rev Mol Diagn; 2022 Aug; 22(8):833-840. PubMed ID: 36082848 [TBL] [Abstract][Full Text] [Related]
8. A scoping review and proposed workflow for multi-omic rare disease research. Kerr K; McAneney H; Smyth LJ; Bailie C; McKee S; McKnight AJ Orphanet J Rare Dis; 2020 Apr; 15(1):107. PubMed ID: 32345347 [TBL] [Abstract][Full Text] [Related]
9. The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience. Ediae GU; Lemire G; Chisholm C; Hartley T; Eaton A; Osmond M; Rojas SK; Huang L; Gillespie M; ; Sawyer SL; Boycott KM Am J Med Genet A; 2023 Feb; 191(2):338-347. PubMed ID: 36331261 [TBL] [Abstract][Full Text] [Related]
10. Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project. Wu B; Kang W; Wang Y; Zhuang D; Chen L; Li L; Su Y; Pan X; Wei Q; Tang Z; Li Y; Gao J; Cheng R; Zhou W; Wang Z; Qiu G; Wang J; Yang L; Zhang P; Zhao X; Wang Y; Gan M; Li G; Liu R; Ni Q; Xiao F; Yan K; Cao Y; Lu G; Lu Y; Wang H; Zhou W Crit Care Med; 2021 Oct; 49(10):1674-1683. PubMed ID: 33935161 [TBL] [Abstract][Full Text] [Related]
11. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Marwaha S; Knowles JW; Ashley EA Genome Med; 2022 Feb; 14(1):23. PubMed ID: 35220969 [TBL] [Abstract][Full Text] [Related]
12. Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children. Mestek-Boukhibar L; Clement E; Jones WD; Drury S; Ocaka L; Gagunashvili A; Le Quesne Stabej P; Bacchelli C; Jani N; Rahman S; Jenkins L; Hurst JA; Bitner-Glindzicz M; Peters M; Beales PL; Williams HJ J Med Genet; 2018 Nov; 55(11):721-728. PubMed ID: 30049826 [TBL] [Abstract][Full Text] [Related]
13. Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. French CE; Delon I; Dolling H; Sanchis-Juan A; Shamardina O; Mégy K; Abbs S; Austin T; Bowdin S; Branco RG; Firth H; ; ; Rowitch DH; Raymond FL Intensive Care Med; 2019 May; 45(5):627-636. PubMed ID: 30847515 [TBL] [Abstract][Full Text] [Related]