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 *

143 related articles for article (PubMed ID: 33084218)

  • 1. The odyssey of complex neurogenetic disorders: From undetermined to positive.
    Salinas V; Vega P; Marsili L; Pérez-Maturo J; Martínez N; Zavala L; González-Morón D; Medina N; Rodriguez-Quiroga SA; Amartino H; Maxit C; Sturchio A; Grimberg B; Duque K; Comas B; Silva W; Consalvo D; Sfaello I; Espay AJ; Kauffman MA
    Am J Med Genet C Semin Med Genet; 2020 Dec; 184(4):876-884. PubMed ID: 33084218
    [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. Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation.
    Salinas V; Martínez N; Maturo JP; Rodriguez-Quiroga SA; Zavala L; Medina N; Amartino H; Sfaello I; Agosta G; Serafín EM; Morón DG; Kauffman MA; Vega P
    Eur J Med Genet; 2021 Dec; 64(12):104363. PubMed ID: 34673242
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
    Córdoba M; Rodriguez-Quiroga SA; Vega PA; Salinas V; Perez-Maturo J; Amartino H; Vásquez-Dusefante C; Medina N; González-Morón D; Kauffman MA
    PLoS One; 2018; 13(2):e0191228. PubMed ID: 29389947
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
    Montaut S; Tranchant C; Drouot N; Rudolf G; Guissart C; Tarabeux J; Stemmelen T; Velt A; Fourrage C; Nitschké P; Gerard B; Mandel JL; Koenig M; Chelly J; Anheim M;
    JAMA Neurol; 2018 Oct; 75(10):1234-1245. PubMed ID: 29913018
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Effectiveness of Whole-Exome Sequencing for the Identification of Causal Mutations in Patients with Suspected Inherited Ocular Diseases.
    Ordoñez-Labastida V; Montes-Almanza L; García-Martínez F; Zenteno JC
    Rev Invest Clin; 2022; 74(4):219-226. PubMed ID: 36087940
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.
    Ramchand J; Wallis M; Macciocca I; Lynch E; Farouque O; Martyn M; Phelan D; Chong B; Lockwood S; Weintraub R; Thompson T; Trainer A; Zentner D; Vohra J; Chetrit M; Hare DL; James P
    J Am Heart Assoc; 2020 Jan; 9(2):e013346. PubMed ID: 31931689
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.
    Platt CD; Zaman F; Bainter W; Stafstrom K; Almutairi A; Reigle M; Weeks S; Geha RS; Chou J;
    J Allergy Clin Immunol; 2021 Feb; 147(2):723-726. PubMed ID: 32888943
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
    Kose M; Isik E; Aykut A; Durmaz A; Kose E; Ersoy M; Diniz G; Adebali O; Ünalp A; Yilmaz Ü; Karaoğlu P; Edizer S; Tekin HG; Özdemir TR; Atik T; Onay H; Özkınay F
    J Pediatr Endocrinol Metab; 2021 Apr; 34(4):417-430. PubMed ID: 33629572
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Assessment of whole-exome sequencing results in neurogenetic diseases.
    Balasar Ö; Başdemirci M
    J Hum Genet; 2023 Dec; 68(12):797-804. PubMed ID: 37524782
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.
    Lee JY; Oh SH; Keum C; Lee BL; Chung WY
    Ann Hum Genet; 2024 Mar; 88(2):101-112. PubMed ID: 37795942
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
    Westra D; Schouten MI; Stunnenberg BC; Kusters B; Saris CGJ; Erasmus CE; van Engelen BG; Bulk S; Verschuuren-Bemelmans CC; Gerkes EH; de Geus C; van der Zwaag PA; Chan S; Chung B; Barge-Schaapveld DQCM; Kriek M; Sznajer Y; van Spaendonck-Zwarts K; van der Kooi AJ; Krause A; Schönewolf-Greulich B; de Die-Smulders C; Sallevelt SCEH; Krapels IPC; Rasmussen M; Maystadt I; Kievit AJA; Witting N; Pennings M; Meijer R; Gillissen C; Kamsteeg EJ; Voermans NC
    J Neuromuscul Dis; 2019; 6(2):241-258. PubMed ID: 31127727
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
    Lazaridis KN; Schahl KA; Cousin MA; Babovic-Vuksanovic D; Riegert-Johnson DL; Gavrilova RH; McAllister TM; Lindor NM; Abraham RS; Ackerman MJ; Pichurin PN; Deyle DR; Gavrilov DK; Hand JL; Klee EW; Stephens MC; Wick MJ; Atkinson EJ; Linden DR; Ferber MJ; Wieben ED; Farrugia G;
    Mayo Clin Proc; 2016 Mar; 91(3):297-307. PubMed ID: 26944241
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
    Salfati EL; Spencer EG; Topol SE; Muse ED; Rueda M; Lucas JR; Wagner GN; Campman S; Topol EJ; Torkamani A
    Genome Med; 2019 Dec; 11(1):83. PubMed ID: 31847883
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
    Sawyer SL; Hartley T; Dyment DA; Beaulieu CL; Schwartzentruber J; Smith A; Bedford HM; Bernard G; Bernier FP; Brais B; Bulman DE; Warman Chardon J; Chitayat D; Deladoëy J; Fernandez BA; Frosk P; Geraghty MT; Gerull B; Gibson W; Gow RM; Graham GE; Green JS; Heon E; Horvath G; Innes AM; Jabado N; Kim RH; Koenekoop RK; Khan A; Lehmann OJ; Mendoza-Londono R; Michaud JL; Nikkel SM; Penney LS; Polychronakos C; Richer J; Rouleau GA; Samuels ME; Siu VM; Suchowersky O; Tarnopolsky MA; Yoon G; Zahir FR; ; ; Majewski J; Boycott KM
    Clin Genet; 2016 Mar; 89(3):275-84. PubMed ID: 26283276
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.
    Jalkh N; Corbani S; Haidar Z; Hamdan N; Farah E; Abou Ghoch J; Ghosn R; Salem N; Fawaz A; Djambas Khayat C; Rajab M; Mourani C; Moukarzel A; Rassi S; Gerbaka B; Mansour H; Baassiri M; Dagher R; Breich D; Mégarbané A; Desvignes JP; Delague V; Mehawej C; Chouery E
    BMC Med Genomics; 2019 Jan; 12(1):11. PubMed ID: 30665423
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
    Cao Y; Tokita MJ; Chen ES; Ghosh R; Chen T; Feng Y; Gorman E; Gibellini F; Ward PA; Braxton A; Wang X; Meng L; Xiao R; Bi W; Xia F; Eng CM; Yang Y; Gambin T; Shaw C; Liu P; Stankiewicz P
    Genome Med; 2019 Jul; 11(1):48. PubMed ID: 31349857
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
    Grunseich C; Sarkar N; Lu J; Owen M; Schindler A; Calabresi PA; Sumner CJ; Roda RH; Chaudhry V; Lloyd TE; Crawford TO; Subramony SH; Oh SJ; Richardson P; Tanji K; Kwan JY; Fischbeck KH; Mankodi A
    J Neurol Neurosurg Psychiatry; 2021 Nov; 92(11):1186-1196. PubMed ID: 34103343
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Exome diagnostics in neurology].
    Zech M; Wagner M; Schormair B; Oexle K; Winkelmann J
    Nervenarzt; 2019 Feb; 90(2):131-137. PubMed ID: 30645660
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.