170 related articles for article (PubMed ID: 36064943)
1. Integrating rapid exome sequencing into NICU clinical care after a pilot research study.
D'Gama AM; Del Rosario MC; Bresnahan MA; Yu TW; Wojcik MH; Agrawal PB
NPJ Genom Med; 2022 Sep; 7(1):51. PubMed ID: 36064943
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Olde Keizer RACM; Marouane A; Kerstjens-Frederikse WS; Deden AC; Lichtenbelt KD; Jonckers T; Vervoorn M; Vreeburg M; Henneman L; de Vries LS; Sinke RJ; Pfundt R; Stevens SJC; Andriessen P; van Lingen RA; Nelen M; Scheffer H; Stemkens D; Oosterwijk C; van Amstel HKP; de Boode WP; van Zelst-Stams WAG; Frederix GWJ; Vissers LELM;
Eur J Pediatr; 2023 Jun; 182(6):2683-2692. PubMed ID: 36997769
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.
Smith HS; Swint JM; Lalani SR; de Oliveira Otto MC; Yamal JM; Russell HV; Lee BH
Genet Med; 2020 Aug; 22(8):1303-1310. PubMed ID: 32336750
[TBL] [Abstract][Full Text] [Related]
5. Putting genome-wide sequencing in neonates into perspective.
van der Sluijs PJ; Aten E; Barge-Schaapveld DQCM; Bijlsma EK; Bökenkamp-Gramann R; Donker Kaat L; van Doorn R; van de Putte DF; van Haeringen A; Ten Harkel ADJ; Hilhorst-Hofstee Y; Hoffer MJV; den Hollander NS; van Ierland Y; Koopmans M; Kriek M; Moghadasi S; Nibbeling EAR; Peeters-Scholte CMPCD; Potjer TP; van Rij M; Ruivenkamp CAL; Rutten JW; Steggerda SJ; Suerink M; Tan RNGB; van der Tuin K; Visser R; van der Werf-'t Lam AS; Williams M; Witlox R; Santen GWE
Genet Med; 2019 May; 21(5):1074-1082. PubMed ID: 30287924
[TBL] [Abstract][Full Text] [Related]
6. Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
Brunelli L; Jenkins SM; Gudgeon JM; Bleyl SB; Miller CE; Tvrdik T; Dames SA; Ostrander B; Daboub JAF; Zielinski BA; Zinkhan EK; Underhill HR; Wilson T; Bonkowsky JL; Yost CC; Botto LD; Jenkins J; Pysher TJ; Bayrak-Toydemir P; Mao R
Mol Genet Genomic Med; 2019 Jul; 7(7):e00796. PubMed ID: 31192527
[TBL] [Abstract][Full Text] [Related]
7. Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.
Staley BS; Milko LV; Waltz M; Griesemer I; Mollison L; Grant TL; Farnan L; Roche M; Navas A; Lightfoot A; Foreman AKM; O'Daniel JM; O'Neill SC; Lin FC; Roman TS; Brandt A; Powell BC; Rini C; Berg JS; Bensen JT
Trials; 2021 Jun; 22(1):395. PubMed ID: 34127041
[TBL] [Abstract][Full Text] [Related]
8. Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test.
Guo F; Liu R; Pan Y; Collins C; Bean L; Ma Z; Mathur A; Da Silva C; Nallamilli B; Guruju N; Chen-Deutsch X; Yousaf R; Chin E; Balciuniene J; Hegde M
Genet Med; 2024 Jan; 26(1):100995. PubMed ID: 37838930
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.
Marouane A; Olde Keizer RACM; Frederix GWJ; Vissers LELM; de Boode WP; van Zelst-Stams WAG
Eur J Pediatr; 2022 Jan; 181(1):359-367. PubMed ID: 34347148
[TBL] [Abstract][Full Text] [Related]
13. The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit.
Rodriguez Llorian E; Dragojlovic N; Campbell TM; Friedman JM; Osiovich H; ; Elliott AM; Lynd LD
Genet Med; 2022 Aug; 24(8):1675-1683. PubMed ID: 35622065
[TBL] [Abstract][Full Text] [Related]
14. Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.
Mainali A; Athey T; Bahl S; Hung C; Caluseriu O; Chan A; Eaton A; Ghai SJ; Kannu P; MacPherson M; Niederhoffer KY; Siriwardena K; Mercimek-Andrews S
Am J Med Genet A; 2023 Feb; 191(2):510-517. PubMed ID: 36401557
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions.
Lavelle TA; Feng X; Keisler M; Cohen JT; Neumann PJ; Prichard D; Schroeder BE; Salyakina D; Espinal PS; Weidner SB; Maron JL
Genet Med; 2022 Jun; 24(6):1349-1361. PubMed ID: 35396982
[TBL] [Abstract][Full Text] [Related]
17. Esophageal Atresia With or Without Tracheoesophageal Fistula: Comorbidities, Genetic Evaluations, and Neonatal Outcomes.
Khattar D; Suhrie KR
Cureus; 2023 Feb; 15(2):e34779. PubMed ID: 36909054
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.
Malam F; Hartley T; Gillespie MK; Armour CM; Bariciak E; Graham GE; Nikkel SM; Richer J; Sawyer SL; Boycott KM; Dyment DA
Am J Med Genet A; 2017 Jul; 173(7):1839-1847. PubMed ID: 28488422
[TBL] [Abstract][Full Text] [Related]
20. Clinical genome sequencing: Three years' experience at a tertiary children's hospital.
Kumar RD; Saba LF; Streff H; Shaw CA; Mizerik E; Snyder MT; Lopez-Terrada D; Scull J
Genet Med; 2023 Oct; 25(10):100916. PubMed ID: 37334785
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
