272 related articles for article (PubMed ID: 36007526)
1. A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF; Smith LD; Kunard CM; Bainbridge M; Batalov S; Benson W; Blincow E; Caylor S; Chambers C; Del Angel G; Dimmock DP; Ding Y; Ellsworth K; Feigenbaum A; Frise E; Green RC; Guidugli L; Hall KP; Hansen C; Hobbs CA; Kahn SD; Kiel M; Van Der Kraan L; Krilow C; Kwon YH; Madhavrao L; Le J; Lefebvre S; Mardach R; Mowrey WR; Oh D; Owen MJ; Powley G; Scharer G; Shelnutt S; Tokita M; Mehtalia SS; Oriol A; Papadopoulos S; Perry J; Rosales E; Sanford E; Schwartz S; Tran D; Reese MG; Wright M; Veeraraghavan N; Wigby K; Willis MJ; Wolen AR; Defay T
Am J Hum Genet; 2022 Sep; 109(9):1605-1619. PubMed ID: 36007526
[TBL] [Abstract][Full Text] [Related]
2. Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol.
Milko LV; Rini C; Lewis MA; Butterfield RM; Lin FC; Paquin RS; Powell BC; Roche MI; Souris KJ; Bailey DB; Berg JS; Powell CM
Trials; 2018 Jun; 19(1):344. PubMed ID: 29950170
[TBL] [Abstract][Full Text] [Related]
3. Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey.
Kingsmore SF;
Am J Med Genet C Semin Med Genet; 2022 Jun; 190(2):243-256. PubMed ID: 36218021
[TBL] [Abstract][Full Text] [Related]
4. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
Dimmock D; Caylor S; Waldman B; Benson W; Ashburner C; Carmichael JL; Carroll J; Cham E; Chowdhury S; Cleary J; D'Harlingue A; Doshi A; Ellsworth K; Galarreta CI; Hobbs C; Houtchens K; Hunt J; Joe P; Joseph M; Kaplan RH; Kingsmore SF; Knight J; Kochhar A; Kronick RG; Limon J; Martin M; Rauen KA; Schwarz A; Shankar SP; Spicer R; Rojas MA; Vargas-Shiraishi O; Wigby K; Zadeh N; Farnaes L
Am J Hum Genet; 2021 Jul; 108(7):1231-1238. PubMed ID: 34089648
[TBL] [Abstract][Full Text] [Related]
5. Rapid Whole Genome Sequencing for Diagnosis of Single Locus Genetic Diseases in Critically Ill Children.
Owen MJ; Batalov S; Ellsworth KA; Wright M; Breeding S; Hugh K; Kingsmore SF; Ding Y
Methods Mol Biol; 2023; 2621():217-239. PubMed ID: 37041447
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Understanding access to genomics in an ethnically diverse south Florida population: A comparison of demographics in odyssey and rapid whole genome sequencing programs.
Hussain SB; Quittner AL; Brown M; Li-Rosi AM
J Genet Couns; 2020 Aug; 29(4):553-561. PubMed ID: 32277851
[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. Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States.
Diaby V; Babcock A; Huang Y; Moussa RK; Espinal PS; Janvier M; Soler D; Gupta A; Jayakar P; Diaz-Barbosa M; Totapally B; Sasaki J; Jayakar A; Salyakina D
Pharmacogenomics J; 2022 Jul; 22(4):223-229. PubMed ID: 35436997
[TBL] [Abstract][Full Text] [Related]
10. Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
Sweeney NM; Nahas SA; Chowdhury S; Batalov S; Clark M; Caylor S; Cakici J; Nigro JJ; Ding Y; Veeraraghavan N; Hobbs C; Dimmock D; Kingsmore SF
NPJ Genom Med; 2021 Apr; 6(1):29. PubMed ID: 33888711
[TBL] [Abstract][Full Text] [Related]
11. Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.
Kingsmore SF; Ramchandar N; James K; Niemi AK; Feigenbaum A; Ding Y; Benson W; Hobbs C; Nahas S; Chowdhury S; Dimmock D
Cold Spring Harb Mol Case Stud; 2020 Feb; 6(1):. PubMed ID: 32014857
[TBL] [Abstract][Full Text] [Related]
12. Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit.
Sanford Kobayashi E; Waldman B; Engorn BM; Perofsky K; Allred E; Briggs B; Gatcliffe C; Ramchandar N; Gold JJ; Doshi A; Ingulli EG; Thornburg CD; Benson W; Farnaes L; Chowdhury S; Rego S; Hobbs C; Kingsmore SF; Dimmock DP; Coufal NG
Front Pediatr; 2021; 9():809536. PubMed ID: 35141181
[TBL] [Abstract][Full Text] [Related]
13. Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
Farnaes L; Hildreth A; Sweeney NM; Clark MM; Chowdhury S; Nahas S; Cakici JA; Benson W; Kaplan RH; Kronick R; Bainbridge MN; Friedman J; Gold JJ; Ding Y; Veeraraghavan N; Dimmock D; Kingsmore SF
NPJ Genom Med; 2018; 3():10. PubMed ID: 29644095
[TBL] [Abstract][Full Text] [Related]
14. Newborn Screening in the Era of Precision Medicine.
Yang L; Chen J; Shen B
Adv Exp Med Biol; 2017; 1005():47-61. PubMed ID: 28916928
[TBL] [Abstract][Full Text] [Related]
15. Diagnosing cystic fibrosis in newborn screening in Poland - 15 years of experience.
Sands D; Zybert K; Mierzejewska E; Ołtarzewski M
Dev Period Med; 2015; 19(1):16-24. PubMed ID: 26003066
[TBL] [Abstract][Full Text] [Related]
16. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.
Bodian DL; Klein E; Iyer RK; Wong WS; Kothiyal P; Stauffer D; Huddleston KC; Gaither AD; Remsburg I; Khromykh A; Baker RL; Maxwell GL; Vockley JG; Niederhuber JE; Solomon BD
Genet Med; 2016 Mar; 18(3):221-30. PubMed ID: 26334177
[TBL] [Abstract][Full Text] [Related]
17. Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Roman TS; Crowley SB; Roche MI; Foreman AKM; O'Daniel JM; Seifert BA; Lee K; Brandt A; Gustafson C; DeCristo DM; Strande NT; Ramkissoon L; Milko LV; Owen P; Roy S; Xiong M; Paquin RS; Butterfield RM; Lewis MA; Souris KJ; Bailey DB; Rini C; Booker JK; Powell BC; Weck KE; Powell CM; Berg JS
Am J Hum Genet; 2020 Oct; 107(4):596-611. PubMed ID: 32853555
[TBL] [Abstract][Full Text] [Related]
18. Rapid Genome Sequencing Diagnosis in Pediatric Patients with Liver Dysfunction.
Bonser D; Malone Jenkins S; Palmquist R; Guthery S; Bonkowsky JL; Jaramillo C
J Pediatr; 2023 Sep; 260():113534. PubMed ID: 37269902
[TBL] [Abstract][Full Text] [Related]
19. Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing.
Joseph G; Chen F; Harris-Wai J; Puck JM; Young C; Koenig BA
Pediatrics; 2016 Jan; 137 Suppl 1(Suppl 1):S36-46. PubMed ID: 26729702
[TBL] [Abstract][Full Text] [Related]
20. Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
Godler DE; Ling L; Gamage D; Baker EK; Bui M; Field MJ; Rogers C; Butler MG; Murgia A; Leonardi E; Polli R; Schwartz CE; Skinner CD; Alliende AM; Santa Maria L; Pitt J; Greaves R; Francis D; Oertel R; Wang M; Simons C; Amor DJ
JAMA Netw Open; 2022 Jan; 5(1):e2141911. PubMed ID: 34982160
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
