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.
258 related articles for article (PubMed ID: 31965297)
1. Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China. Wang H; Lu Y; Dong X; Lu G; Cheng G; Qian Y; Ni Q; Zhang P; Yang L; Wu B; Zhou W Hum Genet; 2020 Apr; 139(4):473-482. PubMed ID: 31965297 [TBL] [Abstract][Full Text] [Related]
2. 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]
3. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. Willig LK; Petrikin JE; Smith LD; Saunders CJ; Thiffault I; Miller NA; Soden SE; Cakici JA; Herd SM; Twist G; Noll A; Creed M; Alba PM; Carpenter SL; Clements MA; Fischer RT; Hays JA; Kilbride H; McDonough RJ; Rosterman JL; Tsai SL; Zellmer L; Farrow EG; Kingsmore SF Lancet Respir Med; 2015 May; 3(5):377-87. PubMed ID: 25937001 [TBL] [Abstract][Full Text] [Related]
4. Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil. Migliavacca MP; Sobreira J; Bermeo D; Gomes M; Alencar D; Sussuchi L; Souza CA; Silva JS; Kroll JE; Burger M; Guarischi-Sousa R; Villela D; Yamamoto GL; Milanezi F; Horigoshi N; Cesar RG; de Carvalho WB; Honjo RS; Bertola DR; Kim CA; de Souza L; Procianoy RS; Silveria RC; Rosenberg C; Giugliani R; Campana GA; Scapulatempo-Neto C; Sobreira N Am J Med Genet A; 2024 Jun; 194(6):e63544. PubMed ID: 38258498 [TBL] [Abstract][Full Text] [Related]
5. Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China. Yang L; Wei Z; Chen X; Hu L; Peng X; Wang J; Lu C; Kong Y; Dong X; Ni Q; Lu Y; Wu B; Wang H; Meirelles K; Tian X; Zhang J; Chang F; Liu L; Li C; You W; Cheng G; Wang L; Cao Y; Chen C; Fang P; Tang S; Zhou W Clin Genet; 2022 Jan; 101(1):101-109. PubMed ID: 34671977 [TBL] [Abstract][Full Text] [Related]
6. Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations. Suzuki H; Nozaki M; Yoshihashi H; Imagawa K; Kajikawa D; Yamada M; Yamaguchi Y; Morisada N; Eguchi M; Ohashi S; Ninomiya S; Seto T; Tokutomi T; Hida M; Toyoshima K; Kondo M; Inui A; Kurosawa K; Kosaki R; Ito Y; Okamoto N; Kosaki K; Takenouchi T J Pediatr; 2022 May; 244():38-48.e1. PubMed ID: 35131284 [TBL] [Abstract][Full Text] [Related]
7. An Integrated Pipeline for Trio-Rapid Genome Sequencing in Critically Ill Infants. Wang X; Gan M; Dong X; Lu Y; Zhou W Curr Protoc; 2023 Mar; 3(3):e706. PubMed ID: 36971344 [TBL] [Abstract][Full Text] [Related]
8. A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants. Kingsmore SF; Cakici JA; Clark MM; Gaughran M; Feddock M; Batalov S; Bainbridge MN; Carroll J; Caylor SA; Clarke C; Ding Y; Ellsworth K; Farnaes L; Hildreth A; Hobbs C; James K; Kint CI; Lenberg J; Nahas S; Prince L; Reyes I; Salz L; Sanford E; Schols P; Sweeney N; Tokita M; Veeraraghavan N; Watkins K; Wigby K; Wong T; Chowdhury S; Wright MS; Dimmock D; Am J Hum Genet; 2019 Oct; 105(4):719-733. PubMed ID: 31564432 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants. Cakici JA; Dimmock DP; Caylor SA; Gaughran M; Clarke C; Triplett C; Clark MM; Kingsmore SF; Bloss CS Am J Hum Genet; 2020 Nov; 107(5):953-962. PubMed ID: 33157008 [TBL] [Abstract][Full Text] [Related]
11. Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours. Lumaka A; Fasquelle C; Debray FG; Alkan S; Jacquinet A; Harvengt J; Boemer F; Mulder A; Vaessen S; Viellevoye R; Palmeira L; Charloteaux B; Brysse A; Bulk S; Rigo V; Bours V Int J Mol Sci; 2023 Feb; 24(4):. PubMed ID: 36835410 [TBL] [Abstract][Full Text] [Related]
12. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. Meng L; Pammi M; Saronwala A; Magoulas P; Ghazi AR; Vetrini F; Zhang J; He W; Dharmadhikari AV; Qu C; Ward P; Braxton A; Narayanan S; Ge X; Tokita MJ; Santiago-Sim T; Dai H; Chiang T; Smith H; Azamian MS; Robak L; Bostwick BL; Schaaf CP; Potocki L; Scaglia F; Bacino CA; Hanchard NA; Wangler MF; Scott D; Brown C; Hu J; Belmont JW; Burrage LC; Graham BH; Sutton VR; Craigen WJ; Plon SE; Lupski JR; Beaudet AL; Gibbs RA; Muzny DM; Miller MJ; Wang X; Leduc MS; Xiao R; Liu P; Shaw C; Walkiewicz M; Bi W; Xia F; Lee B; Eng CM; Yang Y; Lalani SR JAMA Pediatr; 2017 Dec; 171(12):e173438. PubMed ID: 28973083 [TBL] [Abstract][Full Text] [Related]
13. Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU. Sanford EF; Clark MM; Farnaes L; Williams MR; Perry JC; Ingulli EG; Sweeney NM; Doshi A; Gold JJ; Briggs B; Bainbridge MN; Feddock M; Watkins K; Chowdhury S; Nahas SA; Dimmock DP; Kingsmore SF; Coufal NG; Pediatr Crit Care Med; 2019 Nov; 20(11):1007-1020. PubMed ID: 31246743 [TBL] [Abstract][Full Text] [Related]
15. Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study. Zhang R; Cui X; Zhang Y; Ma H; Gao J; Zhang Y; Shu J; Cai C; Liu Y BMC Pediatr; 2024 May; 24(1):351. PubMed ID: 38778310 [TBL] [Abstract][Full Text] [Related]
16. Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders. Ouyang X; Zhang Y; Zhang L; Luo J; Zhang T; Hu H; Liu L; Zhong L; Zeng S; Xu P; Bai Z; Wong LJ; Wang J; Wang C; Wang B; Zhang VW Front Genet; 2021; 12():725259. PubMed ID: 34490048 [TBL] [Abstract][Full Text] [Related]
17. Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project. Xiao F; Wu B; Dong C; Cheng G; Cao Y; Wang L; Dong X; Lu Y; Yang L; Chen L; Li L; Pan X; Wei Q; Zhuang D; Chen D; Yin Z; Ni Q; Liu R; Xu S; Li G; Zhang P; Qian Y; Li X; Peng X; Wang Y; Wang H; Zhou W Hum Genet; 2023 Dec; 142(12):1737-1745. PubMed ID: 37938362 [TBL] [Abstract][Full Text] [Related]
18. An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm. Dimmock DP; Clark MM; Gaughran M; Cakici JA; Caylor SA; Clarke C; Feddock M; Chowdhury S; Salz L; Cheung C; Bird LM; Hobbs C; Wigby K; Farnaes L; Bloss CS; Kingsmore SF; Am J Hum Genet; 2020 Nov; 107(5):942-952. PubMed ID: 33157007 [TBL] [Abstract][Full Text] [Related]
19. Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder. Maron JL; Kingsmore S; Gelb BD; Vockley J; Wigby K; Bragg J; Stroustrup A; Poindexter B; Suhrie K; Kim JH; Diacovo T; Powell CM; Trembath A; Guidugli L; Ellsworth KA; Reed D; Kurfiss A; Breeze JL; Trinquart L; Davis JM JAMA; 2023 Jul; 330(2):161-169. PubMed ID: 37432431 [TBL] [Abstract][Full Text] [Related]
20. Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies. Yang M; Kim JA; Jo HS; Park JH; Ahn SY; Sung SI; Park WS; Cho HW; Kim JM; Park MH; Park HY; Jang JH; Chang YS J Korean Med Sci; 2024 Sep; 39(36):e250. PubMed ID: 39315442 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]