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 *

116 related articles for article (PubMed ID: 33040084)

  • 21. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
    Papuc SM; Abela L; Steindl K; Begemann A; Simmons TL; Schmitt B; Zweier M; Oneda B; Socher E; Crowther LM; Wohlrab G; Gogoll L; Poms M; Seiler M; Papik M; Baldinger R; Baumer A; Asadollahi R; Kroell-Seger J; Schmid R; Iff T; Schmitt-Mechelke T; Otten K; Hackenberg A; Addor MC; Klein A; Azzarello-Burri S; Sticht H; Joset P; Plecko B; Rauch A
    Eur J Hum Genet; 2019 Mar; 27(3):408-421. PubMed ID: 30552426
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Homozygosity stretches around homozygous mutations in autosomal recessive disorders: patients from nonconsanguineous Indian families.
    Phadke SR; Srivastava P; Sharma P; Rai A; Masih S
    J Genet; 2021; 100():. PubMed ID: 33707353
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
    Reuter MS; Tawamie H; Buchert R; Hosny Gebril O; Froukh T; Thiel C; Uebe S; Ekici AB; Krumbiegel M; Zweier C; Hoyer J; Eberlein K; Bauer J; Scheller U; Strom TM; Hoffjan S; Abdelraouf ER; Meguid NA; Abboud A; Al Khateeb MA; Fakher M; Hamdan S; Ismael A; Muhammad S; Abdallah E; Sticht H; Wieczorek D; Reis A; Abou Jamra R
    JAMA Psychiatry; 2017 Mar; 74(3):293-299. PubMed ID: 28097321
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
    Aref-Eshghi E; Kerkhof J; Carere DA; Volodarsky M; Bhai P; Colaiacovo S; Saleh M; Caudle M; Karp N; Prasad C; Balci T; Lin H; Campbell C; Siu VM; Sadikovic B
    J Hum Genet; 2021 May; 66(5):451-464. PubMed ID: 33093641
    [TBL] [Abstract][Full Text] [Related]  

  • 25. SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.
    de Leeuw N; Hehir-Kwa JY; Simons A; Geurts van Kessel A; Smeets DF; Faas BH; Pfundt R
    Cytogenet Genome Res; 2011; 135(3-4):212-21. PubMed ID: 21934286
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.
    Tan TY; Lunke S; Chong B; Phelan D; Fanjul-Fernandez M; Marum JE; Kumar VS; Stark Z; Yeung A; Brown NJ; Stutterd C; Delatycki MB; Sadedin S; Martyn M; Goranitis I; Thorne N; Gaff CL; White SM
    Eur J Hum Genet; 2019 Dec; 27(12):1791-1799. PubMed ID: 31320747
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm.
    Jayasinghe K; White SM; Kerr PG; MacGregor D; Stark Z; Wilkins E; Simons C; Mallett A; Quinlan C
    BMC Nephrol; 2019 Aug; 20(1):330. PubMed ID: 31438875
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Limitations of exome sequencing in detecting rare and undiagnosed diseases.
    Burdick KJ; Cogan JD; Rives LC; Robertson AK; Koziura ME; Brokamp E; Duncan L; Hannig V; Pfotenhauer J; Vanzo R; Paul MS; Bican A; Morgan T; Duis J; Newman JH; Hamid R; Phillips JA;
    Am J Med Genet A; 2020 Jun; 182(6):1400-1406. PubMed ID: 32190976
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
    Marinakis NM; Svingou M; Veltra D; Kekou K; Sofocleous C; Tilemis FN; Kosma K; Tsoutsou E; Fryssira H; Traeger-Synodinos J
    Am J Med Genet A; 2021 Aug; 185(8):2561-2571. PubMed ID: 34008892
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A Long Contiguous Stretch of Homozygosity Disclosed a Novel
    Mellone S; Zavattaro M; Vurchio D; Ronzani S; Caputo M; Leone I; Prodam F; Giordano M
    Genes (Basel); 2021 Oct; 12(11):. PubMed ID: 34828315
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
    Lionel AC; Costain G; Monfared N; Walker S; Reuter MS; Hosseini SM; Thiruvahindrapuram B; Merico D; Jobling R; Nalpathamkalam T; Pellecchia G; Sung WWL; Wang Z; Bikangaga P; Boelman C; Carter MT; Cordeiro D; Cytrynbaum C; Dell SD; Dhir P; Dowling JJ; Heon E; Hewson S; Hiraki L; Inbar-Feigenberg M; Klatt R; Kronick J; Laxer RM; Licht C; MacDonald H; Mercimek-Andrews S; Mendoza-Londono R; Piscione T; Schneider R; Schulze A; Silverman E; Siriwardena K; Snead OC; Sondheimer N; Sutherland J; Vincent A; Wasserman JD; Weksberg R; Shuman C; Carew C; Szego MJ; Hayeems RZ; Basran R; Stavropoulos DJ; Ray PN; Bowdin S; Meyn MS; Cohn RD; Scherer SW; Marshall CR
    Genet Med; 2018 Apr; 20(4):435-443. PubMed ID: 28771251
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
    Dillon OJ; Lunke S; Stark Z; Yeung A; Thorne N; ; Gaff C; White SM; Tan TY
    Eur J Hum Genet; 2018 May; 26(5):644-651. PubMed ID: 29453417
    [TBL] [Abstract][Full Text] [Related]  

  • 34. exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
    Maranhao B; Biswas P; Duncan JL; Branham KE; Silva GA; Naeem MA; Khan SN; Riazuddin S; Hejtmancik JF; Heckenlively JR; Riazuddin SA; Lee PL; Ayyagari R
    Genomics; 2014; 103(2-3):169-76. PubMed ID: 24603341
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
    Carss KJ; Hillman SC; Parthiban V; McMullan DJ; Maher ER; Kilby MD; Hurles ME
    Hum Mol Genet; 2014 Jun; 23(12):3269-77. PubMed ID: 24476948
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients.
    Suzuki H; Yamada M; Uehara T; Takenouchi T; Kosaki K
    Am J Med Genet A; 2020 Nov; 182(11):2529-2532. PubMed ID: 32779332
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
    Seo GH; Kim T; Choi IH; Park JY; Lee J; Kim S; Won DG; Oh A; Lee Y; Choi J; Lee H; Kang HG; Cho HY; Cho MH; Kim YJ; Yoon YH; Eun BL; Desnick RJ; Keum C; Lee BH
    Clin Genet; 2020 Dec; 98(6):562-570. PubMed ID: 32901917
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
    Gardner EJ; Sifrim A; Lindsay SJ; Prigmore E; Rajan D; Danecek P; Gallone G; Eberhardt RY; Martin HC; Wright CF; FitzPatrick DR; Firth HV; Hurles ME
    Am J Hum Genet; 2021 Nov; 108(11):2186-2194. PubMed ID: 34626536
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Estimation of copy number aberrations: Comparison of exome sequencing data with SNP microarrays identifies homozygous deletions of 19q13.2 and CIC in neuroblastoma.
    Fransson S; Östensson M; Djos A; Javanmardi N; Kogner P; Martinsson T
    Int J Oncol; 2016 Mar; 48(3):1103-16. PubMed ID: 26794043
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Update on the use of exome sequencing in the diagnosis of fetal abnormalities.
    Ferretti L; Mellis R; Chitty LS
    Eur J Med Genet; 2019 Aug; 62(8):103663. PubMed ID: 31085342
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.