175 related articles for article (PubMed ID: 32052580)
1. Phenotype-Based Criteria Increases Diagnostic Impact of Exome Sequencing in Neonates.
Am J Med Genet A; 2020 Mar; 182(3):422-423. PubMed ID: 32052580
[No Abstract] [Full Text] [Related]
2. Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
Kernohan KD; Hartley T; Naumenko S; Armour CM; Graham GE; Nikkel SM; Lines M; Geraghty MT; Richer J; Mears W; Boycott KM; Dyment DA
Am J Med Genet A; 2018 Jul; 176(7):1688-1691. PubMed ID: 30160830
[No Abstract] [Full Text] [Related]
3. Whole-exome sequencing emerges as clinical diagnostic tool: testing method proves useful for diagnosing wide range of genetic disorders.
Levenson D
Am J Med Genet A; 2014 Jan; 164A(1):ix-x. PubMed ID: 24352919
[No Abstract] [Full Text] [Related]
4. Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.
Smith LD; Willig LK; Kingsmore SF
Cold Spring Harb Perspect Med; 2015 Dec; 6(2):a023168. PubMed ID: 26684335
[TBL] [Abstract][Full Text] [Related]
5. ACMG Releases Guidelines for Exome and Genome Sequencing for Pediatric Patients.
Am J Med Genet A; 2021 Nov; 185(11):3185-3186. PubMed ID: 34655171
[No Abstract] [Full Text] [Related]
6. Fast genetic sequencing saves newborn lives.
Reardon S
Nature; 2014 Oct; 514(7520):13-4. PubMed ID: 25279893
[No Abstract] [Full Text] [Related]
7. Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.
Hegde M; Santani A; Mao R; Ferreira-Gonzalez A; Weck KE; Voelkerding KV
Arch Pathol Lab Med; 2017 Jun; 141(6):798-805. PubMed ID: 28362156
[TBL] [Abstract][Full Text] [Related]
8. Many newborns in level IV NICUs are eligible for rapid DNA sequencing.
Kapil S; Fishler KP; Euteneuer JC; Brunelli L
Am J Med Genet A; 2019 Feb; 179(2):280-284. PubMed ID: 30569577
[No Abstract] [Full Text] [Related]
9. Whole-exome sequencing effective at diagnosing elusive genetic disorders: tests diagnose about 25% of patients, find a variety of mutation types.
Levenson D
Am J Med Genet A; 2015 Feb; 167A(2):vii-viii. PubMed ID: 25604662
[No Abstract] [Full Text] [Related]
10. 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]
11. 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]
12. Next generation sequencing: the technology we need in pediatric laboratories?
Couderc R; Jonard L; Louha M
Clin Biochem; 2011 May; 44(7):514-515. PubMed ID: 22036354
[No Abstract] [Full Text] [Related]
13. Diagnostic clinical genome and exome sequencing.
Biesecker LG; Green RC
N Engl J Med; 2014 Jun; 370(25):2418-25. PubMed ID: 24941179
[No Abstract] [Full Text] [Related]
14. Molecular diagnostic experience of whole-exome sequencing in adult patients.
Posey JE; Rosenfeld JA; James RA; Bainbridge M; Niu Z; Wang X; Dhar S; Wiszniewski W; Akdemir ZH; Gambin T; Xia F; Person RE; Walkiewicz M; Shaw CA; Sutton VR; Beaudet AL; Muzny D; Eng CM; Yang Y; Gibbs RA; Lupski JR; Boerwinkle E; Plon SE
Genet Med; 2016 Jul; 18(7):678-85. PubMed ID: 26633545
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Exome and whole-genome sequencing for gene discovery: the future is now!
Majewski J; Rosenblatt DS
Hum Mutat; 2012 Apr; 33(4):591-2. PubMed ID: 22411407
[No Abstract] [Full Text] [Related]
17. A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Neveling K; Feenstra I; Gilissen C; Hoefsloot LH; Kamsteeg EJ; Mensenkamp AR; Rodenburg RJ; Yntema HG; Spruijt L; Vermeer S; Rinne T; van Gassen KL; Bodmer D; Lugtenberg D; de Reuver R; Buijsman W; Derks RC; Wieskamp N; van den Heuvel B; Ligtenberg MJ; Kremer H; Koolen DA; van de Warrenburg BP; Cremers FP; Marcelis CL; Smeitink JA; Wortmann SB; van Zelst-Stams WA; Veltman JA; Brunner HG; Scheffer H; Nelen MR
Hum Mutat; 2013 Dec; 34(12):1721-6. PubMed ID: 24123792
[TBL] [Abstract][Full Text] [Related]
18. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC
Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243
[TBL] [Abstract][Full Text] [Related]
19. Challenges of using next generation sequencing in newborn screening.
Reinstein E
Genet Res (Camb); 2015 Nov; 97():e21. PubMed ID: 26521961
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
