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 *

121 related articles for article (PubMed ID: 38789118)

  • 1. Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.
    Chi CS; Tsai CR; Lee HF
    Arch Dis Child; 2024 May; ():. PubMed ID: 38789118
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
    Pagnamenta AT; Camps C; Giacopuzzi E; Taylor JM; Hashim M; Calpena E; Kaisaki PJ; Hashimoto A; Yu J; Sanders E; Schwessinger R; Hughes JR; Lunter G; Dreau H; Ferla M; Lange L; Kesim Y; Ragoussis V; Vavoulis DV; Allroggen H; Ansorge O; Babbs C; Banka S; Baños-Piñero B; Beeson D; Ben-Ami T; Bennett DL; Bento C; Blair E; Brasch-Andersen C; Bull KR; Cario H; Cilliers D; Conti V; Davies EG; Dhalla F; Dacal BD; Dong Y; Dunford JE; Guerrini R; Harris AL; Hartley J; Hollander G; Javaid K; Kane M; Kelly D; Kelly D; Knight SJL; Kreins AY; Kvikstad EM; Langman CB; Lester T; Lines KE; Lord SR; Lu X; Mansour S; Manzur A; Maroofian R; Marsden B; Mason J; McGowan SJ; Mei D; Mlcochova H; Murakami Y; Németh AH; Okoli S; Ormondroyd E; Ousager LB; Palace J; Patel SY; Pentony MM; Pugh C; Rad A; Ramesh A; Riva SG; Roberts I; Roy N; Salminen O; Schilling KD; Scott C; Sen A; Smith C; Stevenson M; Thakker RV; Twigg SRF; Uhlig HH; van Wijk R; Vona B; Wall S; Wang J; Watkins H; Zak J; Schuh AH; Kini U; Wilkie AOM; Popitsch N; Taylor JC
    Genome Med; 2023 Nov; 15(1):94. PubMed ID: 37946251
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole genome sequencing in paediatric channelopathy and cardiomyopathy.
    Kwok SY; Kwong AKY; Shi JZ; Shih CFY; Lee M; Mak CCY; Chui M; Tsao S; Chung BHY
    Front Cardiovasc Med; 2024; 11():1335527. PubMed ID: 38586174
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Diagnostic yield and treatment impact of whole-genome sequencing in paediatric neurological disorders.
    Lee HF; Chi CS; Tsai CR
    Dev Med Child Neurol; 2021 Aug; 63(8):934-938. PubMed ID: 33244750
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The Efficacy of Whole Genome Sequencing and RNA-Seq in the Diagnosis of Whole Exome Sequencing Negative Patients with Complex Neurological Phenotypes.
    Blake B; Brady LI; Rouse NA; Nagy P; Tarnopolsky MA
    J Pediatr Genet; 2023 Sep; 12(3):206-212. PubMed ID: 37575640
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
    Tan NB; Stapleton R; Stark Z; Delatycki MB; Yeung A; Hunter MF; Amor DJ; Brown NJ; Stutterd CA; McGillivray G; Yap P; Regan M; Chong B; Fanjul Fernandez M; Marum J; Phelan D; Pais LS; White SM; Lunke S; Tan TY
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1508. PubMed ID: 32969205
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants.
    Liu X; Hu F; Zhang D; Li Z; He J; Zhang S; Wang Z; Zhao Y; Wu J; Liu C; Li C; Li X; Wu J
    NPJ Genom Med; 2024 Jan; 9(1):6. PubMed ID: 38245557
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
    Record CJ; Pipis M; Skorupinska M; Blake J; Poh R; Polke JM; Eggleton K; Nanji T; Zuchner S; Cortese A; Houlden H; Rossor AM; Laura M; Reilly MM
    Brain; 2024 Mar; ():. PubMed ID: 38481354
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
    Costain G; Jobling R; Walker S; Reuter MS; Snell M; Bowdin S; Cohn RD; Dupuis L; Hewson S; Mercimek-Andrews S; Shuman C; Sondheimer N; Weksberg R; Yoon G; Meyn MS; Stavropoulos DJ; Scherer SW; Mendoza-Londono R; Marshall CR
    Eur J Hum Genet; 2018 May; 26(5):740-744. PubMed ID: 29453418
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
    van Slobbe M; van Haeringen A; Vissers LELM; Bijlsma EK; Rutten JW; Suerink M; Nibbeling EAR; Ruivenkamp CAL; Koene S
    Eur J Pediatr; 2024 Jan; 183(1):345-355. PubMed ID: 37889289
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.
    Nurchis MC; Altamura G; Riccardi MT; Radio FC; Chillemi G; Bertini ES; Garlasco J; Tartaglia M; Dallapiccola B; Damiani G
    Arch Public Health; 2023 May; 81(1):93. PubMed ID: 37231492
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
    Akgun-Dogan O; Tuc Bengur E; Ay B; Ozkose GS; Kar E; Bengur FB; Bulut AS; Yigit A; Aydin E; Esen FN; Ozdemir O; Yesilyurt A; Alanay Y
    Front Genet; 2024; 15():1347474. PubMed ID: 38560291
    [No Abstract]   [Full Text] [Related]  

  • 15. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
    Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid BM; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
    Genome Med; 2019 Nov; 11(1):68. PubMed ID: 31694722
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
    James KN; Clark MM; Camp B; Kint C; Schols P; Batalov S; Briggs B; Veeraraghavan N; Chowdhury S; Kingsmore SF
    NPJ Genom Med; 2020; 5():33. PubMed ID: 32821428
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.
    Westenius E; Conner P; Pettersson M; Sahlin E; Papadogiannakis N; Lindstrand A; Iwarsson E
    Ultrasound Obstet Gynecol; 2024 May; 63(5):658-663. PubMed ID: 38268232
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genome sequencing in persistently unsolved white matter disorders.
    Helman G; Lajoie BR; Crawford J; Takanohashi A; Walkiewicz M; Dolzhenko E; Gross AM; Gainullin VG; Bent SJ; Jenkinson EM; Ferdinandusse S; Waterham HR; Dorboz I; Bertini E; Miyake N; Wolf NI; Abbink TEM; Kirwin SM; Tan CM; Hobson GM; Guo L; Ikegawa S; Pizzino A; Schmidt JL; Bernard G; Schiffmann R; van der Knaap MS; Simons C; Taft RJ; Vanderver A
    Ann Clin Transl Neurol; 2020 Jan; 7(1):144-152. PubMed ID: 31912665
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.
    Cirino AL; Lakdawala NK; McDonough B; Conner L; Adler D; Weinfeld M; O'Gara P; Rehm HL; Machini K; Lebo M; Blout C; Green RC; MacRae CA; Seidman CE; Ho CY;
    Circ Cardiovasc Genet; 2017 Oct; 10(5):. PubMed ID: 29030401
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.