287 related articles for article (PubMed ID: 37432431)
1. 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]
2. Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.
Maron JL; Kingsmore SF; Wigby K; Chowdhury S; Dimmock D; Poindexter B; Suhrie K; Vockley J; Diacovo T; Gelb BD; Stroustrup A; Powell CM; Trembath A; Gallen M; Mullen TE; Tanpaiboon P; Reed D; Kurfiss A; Davis JM
JAMA Pediatr; 2021 May; 175(5):e205906. PubMed ID: 33587123
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. 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]
6. 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]
7. RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
Elliott AM; du Souich C; Lehman A; Guella I; Evans DM; Candido T; Tooman L; Armstrong L; Clarke L; Gibson W; Gill H; Lavoie PM; Lewis S; McKinnon ML; Nikkel SM; Patel M; Solimano A; Synnes A; Ting J; van Allen M; Christilaw J; Farrer MJ; Friedman JM; Osiovich H
Eur J Pediatr; 2019 Aug; 178(8):1207-1218. PubMed ID: 31172278
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Rapid Targeted Genomics in Critically Ill Newborns.
van Diemen CC; Kerstjens-Frederikse WS; Bergman KA; de Koning TJ; Sikkema-Raddatz B; van der Velde JK; Abbott KM; Herkert JC; Löhner K; Rump P; Meems-Veldhuis MT; Neerincx PBT; Jongbloed JDH; van Ravenswaaij-Arts CM; Swertz MA; Sinke RJ; van Langen IM; Wijmenga C
Pediatrics; 2017 Oct; 140(4):. PubMed ID: 28939701
[TBL] [Abstract][Full Text] [Related]
10. National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D; Mory A; Reytan-Miron S; Amir Y; Kurolap A; Cohen JG; Morhi Y; Smolkin T; Cohen L; Zangen S; Shalata A; Riskin A; Peleg A; Lavie-Nevo K; Mandel D; Chervinsky E; Fisch CF; Fleisher Sheffer V; Falik-Zaccai TC; Rips J; Shlomai NO; Friedman SE; Shporen CH; Ben-Yehoshua SJ; Simmonds A; Yaacobi RG; Bauer-Rusek S; Omari H; Weiss K; Hochwald O; Koifman A; Globus O; Batzir NA; Yaron N; Segel R; Morag I; Reish O; Eliyahu A; Leibovitch L; Schwartz ME; Abramsky R; Hochberg A; Oron A; Banne E; Portnov I; Samra NN; Singer A; Baris Feldman H
JAMA Netw Open; 2024 Feb; 7(2):e240146. PubMed ID: 38386321
[TBL] [Abstract][Full Text] [Related]
11. Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y; Muzny DM; Xia F; Niu Z; Person R; Ding Y; Ward P; Braxton A; Wang M; Buhay C; Veeraraghavan N; Hawes A; Chiang T; Leduc M; Beuten J; Zhang J; He W; Scull J; Willis A; Landsverk M; Craigen WJ; Bekheirnia MR; Stray-Pedersen A; Liu P; Wen S; Alcaraz W; Cui H; Walkiewicz M; Reid J; Bainbridge M; Patel A; Boerwinkle E; Beaudet AL; Lupski JR; Plon SE; Gibbs RA; Eng CM
JAMA; 2014 Nov; 312(18):1870-9. PubMed ID: 25326635
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC; Costain G; Monfared N; Walker S; Reuter MS; Hosseini SM; Thiruvahindrapuram B; Merico D; Jobling R; Nalpathamkalam T; Pellecchia G; Sung WWL; Wang Z; Bikangaga P; Boelman C; Carter MT; Cordeiro D; Cytrynbaum C; Dell SD; Dhir P; Dowling JJ; Heon E; Hewson S; Hiraki L; Inbar-Feigenberg M; Klatt R; Kronick J; Laxer RM; Licht C; MacDonald H; Mercimek-Andrews S; Mendoza-Londono R; Piscione T; Schneider R; Schulze A; Silverman E; Siriwardena K; Snead OC; Sondheimer N; Sutherland J; Vincent A; Wasserman JD; Weksberg R; Shuman C; Carew C; Szego MJ; Hayeems RZ; Basran R; Stavropoulos DJ; Ray PN; Bowdin S; Meyn MS; Cohn RD; Scherer SW; Marshall CR
Genet Med; 2018 Apr; 20(4):435-443. PubMed ID: 28771251
[TBL] [Abstract][Full Text] [Related]
14. Rapid whole genome sequencing and precision neonatology.
Petrikin JE; Willig LK; Smith LD; Kingsmore SF
Semin Perinatol; 2015 Dec; 39(8):623-31. PubMed ID: 26521050
[TBL] [Abstract][Full Text] [Related]
15. Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Lee H; Deignan JL; Dorrani N; Strom SP; Kantarci S; Quintero-Rivera F; Das K; Toy T; Harry B; Yourshaw M; Fox M; Fogel BL; Martinez-Agosto JA; Wong DA; Chang VY; Shieh PB; Palmer CG; Dipple KM; Grody WW; Vilain E; Nelson SF
JAMA; 2014 Nov; 312(18):1880-7. PubMed ID: 25326637
[TBL] [Abstract][Full Text] [Related]
16. The future of Cochrane Neonatal.
Soll RF; Ovelman C; McGuire W
Early Hum Dev; 2020 Nov; 150():105191. PubMed ID: 33036834
[TBL] [Abstract][Full Text] [Related]
17. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
[TBL] [Abstract][Full Text] [Related]
18. The Role of Genome Sequencing in Neonatal Intensive Care Units.
Kingsmore SF; Cole FS
Annu Rev Genomics Hum Genet; 2022 Aug; 23():427-448. PubMed ID: 35676073
[TBL] [Abstract][Full Text] [Related]
19. An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.
Milko LV; O'Daniel JM; DeCristo DM; Crowley SB; Foreman AKM; Wallace KE; Mollison LF; Strande NT; Girnary ZS; Boshe LJ; Aylsworth AS; Gucsavas-Calikoglu M; Frazier DM; Vora NL; Roche MI; Powell BC; Powell CM; Berg JS
J Pediatr; 2019 Jun; 209():68-76. PubMed ID: 30851990
[TBL] [Abstract][Full Text] [Related]
20. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
; Krantz ID; Medne L; Weatherly JM; Wild KT; Biswas S; Devkota B; Hartman T; Brunelli L; Fishler KP; Abdul-Rahman O; Euteneuer JC; Hoover D; Dimmock D; Cleary J; Farnaes L; Knight J; Schwarz AJ; Vargas-Shiraishi OM; Wigby K; Zadeh N; Shinawi M; Wambach JA; Baldridge D; Cole FS; Wegner DJ; Urraca N; Holtrop S; Mostafavi R; Mroczkowski HJ; Pivnick EK; Ward JC; Talati A; Brown CW; Belmont JW; Ortega JL; Robinson KD; Brocklehurst WT; Perry DL; Ajay SS; Hagelstrom RT; Bennett M; Rajan V; Taft RJ
JAMA Pediatr; 2021 Dec; 175(12):1218-1226. PubMed ID: 34570182
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
