BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

261 related articles for article (PubMed ID: 33969388)

  • 1. Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.
    Youssefian L; Saeidian AH; Palizban F; Bagherieh A; Abdollahimajd F; Sotoudeh S; Mozafari N; Farahani RA; Mahmoudi H; Babashah S; Zabihi M; Zeinali S; Fortina P; Salas-Alanis JC; South AP; Vahidnezhad H; Uitto J
    Clin Chem; 2021 Jun; 67(6):876-888. PubMed ID: 33969388
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders.
    Saeidian AH; Youssefian L; Vahidnezhad H; Uitto J
    J Invest Dermatol; 2020 Jun; 140(6):1117-1126.e1. PubMed ID: 32446329
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions.
    Saeidian AH; Youssefian L; Huang CY; Palizban F; Naji M; Saffarian Z; Mahmoudi H; Goodarzi A; Sotoudeh S; Vahidnezhad F; Amani M; Tavakoli N; Ajami A; Mozafarpoor S; Teimoorian M; Dorgaleleh S; Shokri S; Shenagari M; Abedi N; Zeinali S; Fortina P; Béziat V; Jouanguy E; Casanova JL; Uitto J; Vahidnezhad H
    JCI Insight; 2022 Apr; 7(8):. PubMed ID: 35316210
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
    Yépez VA; Gusic M; Kopajtich R; Mertes C; Smith NH; Alston CL; Ban R; Beblo S; Berutti R; Blessing H; Ciara E; Distelmaier F; Freisinger P; Häberle J; Hayflick SJ; Hempel M; Itkis YS; Kishita Y; Klopstock T; Krylova TD; Lamperti C; Lenz D; Makowski C; Mosegaard S; Müller MF; Muñoz-Pujol G; Nadel A; Ohtake A; Okazaki Y; Procopio E; Schwarzmayr T; Smet J; Staufner C; Stenton SL; Strom TM; Terrile C; Tort F; Van Coster R; Vanlander A; Wagner M; Xu M; Fang F; Ghezzi D; Mayr JA; Piekutowska-Abramczuk D; Ribes A; Rötig A; Taylor RW; Wortmann SB; Murayama K; Meitinger T; Gagneur J; Prokisch H
    Genome Med; 2022 Apr; 14(1):38. PubMed ID: 35379322
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
    Vahidnezhad H; Youssefian L; Saeidian AH; Mahmoudi H; Touati A; Abiri M; Kajbafzadeh AM; Aristodemou S; Liu L; McGrath JA; Ertel A; Londin E; Kariminejad A; Zeinali S; Fortina P; Uitto J
    Matrix Biol; 2018 Mar; 66():22-33. PubMed ID: 29138120
    [TBL] [Abstract][Full Text] [Related]  

  • 6. DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.
    Hozhabrpour A; Mojbafan M; Palizban F; Vahidnezhad F; Talebi S; Amani M; Garshasbi M; Naghavi A; Khalesi R; Mansouri P; Sotoudeh S; Mahmoudi H; Varghaei A; Daneshpazhooh M; Karimi F; Zeinali S; Kalamati E; Uitto J; Youssefian L; Vahidnezhad H
    DNA Repair (Amst); 2024 Apr; 136():103633. PubMed ID: 38422792
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
    Gonorazky HD; Naumenko S; Ramani AK; Nelakuditi V; Mashouri P; Wang P; Kao D; Ohri K; Viththiyapaskaran S; Tarnopolsky MA; Mathews KD; Moore SA; Osorio AN; Villanova D; Kemaladewi DU; Cohn RD; Brudno M; Dowling JJ
    Am J Hum Genet; 2019 Mar; 104(3):466-483. PubMed ID: 30827497
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
    Dekker J; Schot R; Bongaerts M; de Valk WG; van Veghel-Plandsoen MM; Monfils K; Douben H; Elfferich P; Kasteleijn E; van Unen LMA; Geeven G; Saris JJ; van Ierland Y; Verheijen FW; van der Sterre MLT; Sadeghi Niaraki F; Smits DJ; Huidekoper HH; Williams M; Wilke M; Verhoeven VJM; Joosten M; Kievit AJA; van de Laar IMBH; Hoefsloot LH; Hoogeveen-Westerveld M; Nellist M; Mancini GMS; van Ham TJ
    Am J Hum Genet; 2023 Feb; 110(2):251-272. PubMed ID: 36669495
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
    Cummings BB; Marshall JL; Tukiainen T; Lek M; Donkervoort S; Foley AR; Bolduc V; Waddell LB; Sandaradura SA; O'Grady GL; Estrella E; Reddy HM; Zhao F; Weisburd B; Karczewski KJ; O'Donnell-Luria AH; Birnbaum D; Sarkozy A; Hu Y; Gonorazky H; Claeys K; Joshi H; Bournazos A; Oates EC; Ghaoui R; Davis MR; Laing NG; Topf A; ; Kang PB; Beggs AH; North KN; Straub V; Dowling JJ; Muntoni F; Clarke NF; Cooper ST; Bönnemann CG; MacArthur DG
    Sci Transl Med; 2017 Apr; 9(386):. PubMed ID: 28424332
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing.
    Zhang L; Lou H; Huang Y; Dong L; Gong X; Zhang X; Bao W; Xiao R
    J Mol Diagn; 2024 Apr; 26(4):267-277. PubMed ID: 38280421
    [TBL] [Abstract][Full Text] [Related]  

  • 11. RVboost: RNA-seq variants prioritization using a boosting method.
    Wang C; Davila JI; Baheti S; Bhagwate AV; Wang X; Kocher JP; Slager SL; Feldman AL; Novak AJ; Cerhan JR; Thompson EA; Asmann YW
    Bioinformatics; 2014 Dec; 30(23):3414-6. PubMed ID: 25170027
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.
    Shen RJ; Wang JG; Li Y; Jin ZB
    Orphanet J Rare Dis; 2021 Jun; 16(1):278. PubMed ID: 34130719
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Limitations of Detecting Genetic Variants from the RNA Sequencing Data in Tissue and Fine-Needle Aspiration Samples.
    Kaya C; Dorsaint P; Mercurio S; Campbell AM; Eng KW; Nikiforova MN; Elemento O; Nikiforov YE; Sboner A
    Thyroid; 2021 Apr; 31(4):589-595. PubMed ID: 32948110
    [No Abstract]   [Full Text] [Related]  

  • 14. Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
    Vahidnezhad H; Youssefian L; Saeidian AH; Zeinali S; Touati A; Abiri M; Sotoudeh S; Norouz-Zadeh S; Amirinezhad N; Mozafari N; Daneshpazhooh M; Mahmoudi H; Hamid M; Bradfield JP; Kim CE; Hakonarson H; Uitto J
    Exp Dermatol; 2019 Oct; 28(10):1118-1121. PubMed ID: 29364557
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exome versus transcriptome sequencing in identifying coding region variants.
    Ku CS; Wu M; Cooper DN; Naidoo N; Pawitan Y; Pang B; Iacopetta B; Soong R
    Expert Rev Mol Diagn; 2012 Apr; 12(3):241-51. PubMed ID: 22468815
    [TBL] [Abstract][Full Text] [Related]  

  • 16. RNA-Seq: revelation of the messengers.
    Van Verk MC; Hickman R; Pieterse CM; Van Wees SC
    Trends Plant Sci; 2013 Apr; 18(4):175-9. PubMed ID: 23481128
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor
    Evrony GD; Cordero DR; Shen J; Partlow JN; Yu TW; Rodin RE; Hill RS; Coulter ME; Lam AN; Jayaraman D; Gerrelli D; Diaz DG; Santos C; Morrison V; Galli A; Tschulena U; Wiemann S; Martel MJ; Spooner B; Ryu SC; Elhosary PC; Richardson JM; Tierney D; Robinson CA; Chibbar R; Diudea D; Folkerth R; Wiebe S; Barkovich AJ; Mochida GH; Irvine J; Lemire EG; Blakley P; Walsh CA
    Genome Res; 2017 Aug; 27(8):1323-1335. PubMed ID: 28630177
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SPARTA: Simple Program for Automated reference-based bacterial RNA-seq Transcriptome Analysis.
    Johnson BK; Scholz MB; Teal TK; Abramovitch RB
    BMC Bioinformatics; 2016 Feb; 17():66. PubMed ID: 26847232
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Next-generation sequencing facilitates quantitative analysis of wild-type and Nrl(-/-) retinal transcriptomes.
    Brooks MJ; Rajasimha HK; Roger JE; Swaroop A
    Mol Vis; 2011; 17():3034-54. PubMed ID: 22162623
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Next generation sequencing applications for cardiovascular disease.
    Kalayinia S; Goodarzynejad H; Maleki M; Mahdieh N
    Ann Med; 2018 Mar; 50(2):91-109. PubMed ID: 29027470
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.