These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

203 related articles for article (PubMed ID: 36785910)

  • 1. The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.
    Grether A; Ivanovski I; Russo M; Begemann A; Steindl K; Abela L; Papik M; Zweier M; Oneda B; Joset P; Rauch A
    Mol Genet Genomic Med; 2023 May; 11(5):e2148. PubMed ID: 36785910
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Comprehensive prenatal diagnostics: Exome versus genome sequencing.
    Miceikaite I; Fagerberg C; Brasch-Andersen C; Torring PM; Kristiansen BS; Hao Q; Sperling L; Ibsen MH; Löser K; Bendsen EA; Ousager LB; Larsen MJ
    Prenat Diagn; 2023 Aug; 43(9):1132-1141. PubMed ID: 37355983
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.
    Zhou J; Yang Z; Sun J; Liu L; Zhou X; Liu F; Xing Y; Cui S; Xiong S; Liu X; Yang Y; Wei X; Zou G; Wang Z; Wei X; Wang Y; Zhang Y; Yan S; Wu F; Zeng F; Wang J; Duan T; Peng Z; Sun L
    Genes (Basel); 2021 Mar; 12(3):. PubMed ID: 33800913
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.
    Alfares A; Aloraini T; Subaie LA; Alissa A; Qudsi AA; Alahmad A; Mutairi FA; Alswaid A; Alothaim A; Eyaid W; Albalwi M; Alturki S; Alfadhel M
    Genet Med; 2018 Nov; 20(11):1328-1333. PubMed ID: 29565419
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
    Belkadi A; Bolze A; Itan Y; Cobat A; Vincent QB; Antipenko A; Shang L; Boisson B; Casanova JL; Abel L
    Proc Natl Acad Sci U S A; 2015 Apr; 112(17):5473-8. PubMed ID: 25827230
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
    Maggi J; Koller S; Feil S; Bachmann-Gagescu R; Gerth-Kahlert C; Berger W
    Int J Mol Sci; 2024 Jun; 25(12):. PubMed ID: 38928247
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
    Mørup SB; Nazaryan-Petersen L; Gabrielaite M; Reekie J; Marquart HV; Hartling HJ; Marvig RL; Katzenstein TL; Masmas TN; Lundgren J; Murray DD; Helleberg M; Borgwardt L
    Front Immunol; 2022; 13():906328. PubMed ID: 35874679
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Whole exome sequencing and whole genome sequencing in undiagnosed disease: of value for certain patient populations].
    Linthorst GE; Hollak CEM
    Ned Tijdschr Geneeskd; 2019 May; 163():. PubMed ID: 31120221
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Using the Sankey diagram to visualize article features on the topics of whole-exome sequencing (WES) and whole-genome sequencing (WGS) since 2012: Bibliometric analysis.
    Li MJ; Chien TW; Liao KW; Lai FJ
    Medicine (Baltimore); 2022 Sep; 101(38):e30682. PubMed ID: 36197161
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
    Ewans LJ; Minoche AE; Schofield D; Shrestha R; Puttick C; Zhu Y; Drew A; Gayevskiy V; Elakis G; Walsh C; Adès LC; Colley A; Ellaway C; Evans CA; Freckmann ML; Goodwin L; Hackett A; Kamien B; Kirk EP; Lipke M; Mowat D; Palmer E; Rajagopalan S; Ronan A; Sachdev R; Stevenson W; Turner A; Wilson M; Worgan L; Morel-Kopp MC; Field M; Buckley MF; Cowley MJ; Dinger ME; Roscioli T
    Eur J Hum Genet; 2022 Oct; 30(10):1121-1131. PubMed ID: 35970915
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.
    Nurchis MC; Radio FC; Salmasi L; Heidar Alizadeh A; Raspolini GM; Altamura G; Tartaglia M; Dallapiccola B; Pizzo E; Gianino MM; Damiani G
    JAMA Netw Open; 2024 Jan; 7(1):e2353514. PubMed ID: 38277144
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analyses.
    Kvapilova K; Misenko P; Radvanszky J; Brzon O; Budis J; Gazdarica J; Pos O; Korabecna M; Kasny M; Szemes T; Kvapil P; Paces J; Kozmik Z
    BMC Genomics; 2024 Feb; 25(1):187. PubMed ID: 38365587
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
    Palmer EE; Sachdev R; Macintosh R; Melo US; Mundlos S; Righetti S; Kandula T; Minoche AE; Puttick C; Gayevskiy V; Hesson L; Idrisoglu S; Shoubridge C; Thai MHN; Davis RL; Drew AP; Sampaio H; Andrews PI; Lawson J; Cardamone M; Mowat D; Colley A; Kummerfeld S; Dinger ME; Cowley MJ; Roscioli T; Bye A; Kirk E
    Neurology; 2021 Mar; 96(13):e1770-e1782. PubMed ID: 33568551
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort.
    Nazeha N; Koh AL; Kam S; Lim JY; Goh DLM; Jamuar SS; Graves N
    Am J Med Genet A; 2022 Dec; 188(12):3482-3491. PubMed ID: 36156406
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel ITPA variants identified by whole genome sequencing and RNA sequencing.
    Omichi N; Kishita Y; Nakama M; Sasai H; Terazawa A; Kobayashi E; Fushimi T; Sugiyama Y; Ichimoto K; Nitta KR; Yatsuka Y; Ohtake A; Murayama K; Okazaki Y
    J Hum Genet; 2023 Sep; 68(9):649-652. PubMed ID: 37246162
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.
    Lelieveld SH; Spielmann M; Mundlos S; Veltman JA; Gilissen C
    Hum Mutat; 2015 Aug; 36(8):815-22. PubMed ID: 25973577
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Copy number alterations detected by whole-exome and whole-genome sequencing of esophageal adenocarcinoma.
    Wang X; Li X; Cheng Y; Sun X; Sun X; Self S; Kooperberg C; Dai JY
    Hum Genomics; 2015 Sep; 9(1):22. PubMed ID: 26374103
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries.
    Shillington A; Zea Vera A; Perry T; Hopkin R; Thomas C; Cooper D; Suhrie K
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1804. PubMed ID: 34528764
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
    Manheimer KB; Patel N; Richter F; Gorham J; Tai AC; Homsy J; Boskovski MT; Parfenov M; Goldmuntz E; Chung WK; Brueckner M; Tristani-Firouzi M; Srivastava D; Seidman JG; Seidman CE; Gelb BD; Sharp AJ
    Hum Mutat; 2018 Jun; 39(6):870-881. PubMed ID: 29527824
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence.
    Nurchis MC; Riccardi MT; Radio FC; Chillemi G; Bertini ES; Tartaglia M; Cicchetti A; Dallapiccola B; Damiani G
    Health Policy; 2022 Apr; 126(4):337-345. PubMed ID: 35317923
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.