130 related articles for article (PubMed ID: 30756437)
1. Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.
Tan NB; Tan TY; Martyn MM; Savarirayan R; Amor DJ; Moody A; White SM; Stark Z
J Paediatr Child Health; 2019 Nov; 55(11):1309-1314. PubMed ID: 30756437
[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. Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.
Borghesi A; Mencarelli MA; Memo L; Ferrero GB; Bartuli A; Genuardi M; Stronati M; Villani A; Renieri A; Corsello G;
Ital J Pediatr; 2017 Nov; 43(1):100. PubMed ID: 29100554
[TBL] [Abstract][Full Text] [Related]
4. Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis.
Olde Keizer RACM; Marouane A; Deden AC; van Zelst-Stams WAG; de Boode WP; Keusters WR; Henneman L; van Amstel JKP; Frederix GWJ; Vissers LELM
Eur J Med Genet; 2022 May; 65(5):104467. PubMed ID: 35240323
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. 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]
8. Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost?
Swaggart KA; Swarr DT; Tolusso LK; He H; Dawson DB; Suhrie KR
J Pediatr; 2019 Oct; 213():211-217.e4. PubMed ID: 31255390
[TBL] [Abstract][Full Text] [Related]
9. Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit.
Muriello M
Clin Perinatol; 2022 Mar; 49(1):167-179. PubMed ID: 35209999
[TBL] [Abstract][Full Text] [Related]
10. Detection and impact of genetic disease in a level IV neonatal intensive care unit.
Hagen L; Khattar D; Whitehead K; He H; Swarr DT; Suhrie K
J Perinatol; 2022 May; 42(5):580-588. PubMed ID: 35181764
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Collaborative efforts to improve genetic testing in the neonatal intensive care unit.
Schuler BA; Mosera M; Hatch LD; Grochowsky A; Wheeler F
J Perinatol; 2023 Dec; 43(12):1500-1505. PubMed ID: 37914812
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.
Ontario Health (Quality)
Ont Health Technol Assess Ser; 2020; 20(11):1-178. PubMed ID: 32194879
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Rapid exome sequencing: revolutionises the management of acutely unwell neonates.
Williamson SL; Rasanayagam CN; Glover KJ; Baptista J; Naik S; Satodia P; Gowda H
Eur J Pediatr; 2021 Dec; 180(12):3587-3591. PubMed ID: 34143244
[TBL] [Abstract][Full Text] [Related]
18. Evaluating Genetic Disorders in the Neonate: The Role of Exome Sequencing in the NICU.
Senaratne TN; Saitta SC
Neoreviews; 2022 Dec; 23(12):e829-e840. PubMed ID: 36450644
[TBL] [Abstract][Full Text] [Related]
19. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
Scholz T; Blohm ME; Kortüm F; Bierhals T; Lessel D; van der Ven AT; Lisfeld J; Herget T; Kloth K; Singer D; Perez A; Obi N; Johannsen J; Denecke J; Santer R; Kubisch C; Deindl P; Hempel M
Neonatology; 2021; 118(4):454-461. PubMed ID: 34237744
[TBL] [Abstract][Full Text] [Related]
20. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Diderich KEM; Romijn K; Joosten M; Govaerts LCP; Polak M; Bruggenwirth HT; Wilke M; van Slegtenhorst MA; van Bever Y; Brooks AS; Mancini GMS; van de Laar IMBH; Kromosoeto JNR; Knapen MFCM; Go ATJI; Van Opstal D; Hoefsloot LH; Galjaard RH; Srebniak MI
Acta Obstet Gynecol Scand; 2021 Jun; 100(6):1106-1115. PubMed ID: 33249554
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
