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 *

297 related articles for article (PubMed ID: 35743235)

  • 1. New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches.
    Setty ST; Scott-Boyer MP; Cuppens T; Droit A
    Int J Mol Sci; 2022 Jun; 23(12):. PubMed ID: 35743235
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Implementation of Exome Sequencing to Identify Rare Genetic Diseases.
    Udupa P; Ghosh DK
    Methods Mol Biol; 2024; 2719():79-98. PubMed ID: 37803113
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Diagnosing rare diseases after the exome.
    Frésard L; Montgomery SB
    Cold Spring Harb Mol Case Stud; 2018 Dec; 4(6):. PubMed ID: 30559314
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
    Schobers G; Schieving JH; Yntema HG; Pennings M; Pfundt R; Derks R; Hofste T; de Wijs I; Wieskamp N; van den Heuvel S; Galbany JC; Gilissen C; Nelen M; Brunner HG; Kleefstra T; Kamsteeg EJ; Willemsen MAAP; Vissers LELM
    Genome Med; 2022 Jun; 14(1):66. PubMed ID: 35710456
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
    Bullich G; Matalonga L; Pujadas M; Papakonstantinou A; Piscia D; Tonda R; Artuch R; Gallano P; Garrabou G; González JR; Grinberg D; Guitart M; Laurie S; Lázaro C; Luengo C; Martí R; Milà M; Ovelleiro D; Parra G; Pujol A; Tizzano E; Macaya A; Palau F; Ribes A; Pérez-Jurado LA; Beltran S;
    J Mol Diagn; 2022 May; 24(5):529-542. PubMed ID: 35569879
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
    Boycott KM; Hartley T; Biesecker LG; Gibbs RA; Innes AM; Riess O; Belmont J; Dunwoodie SL; Jojic N; Lassmann T; Mackay D; Temple IK; Visel A; Baynam G
    Cell; 2019 Mar; 177(1):32-37. PubMed ID: 30901545
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
    Bick D; Jones M; Taylor SL; Taft RJ; Belmont J
    J Med Genet; 2019 Dec; 56(12):783-791. PubMed ID: 31023718
    [TBL] [Abstract][Full Text] [Related]  

  • 9. What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?
    Murdock DR; Rosenfeld JA; Lee B
    Annu Rev Med; 2022 Jan; 73():575-585. PubMed ID: 35084988
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome/Genome Sequencing in Undiagnosed Syndromes.
    Sullivan JA; Schoch K; Spillmann RC; Shashi V
    Annu Rev Med; 2023 Jan; 74():489-502. PubMed ID: 36706750
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
    Marwaha S; Knowles JW; Ashley EA
    Genome Med; 2022 Feb; 14(1):23. PubMed ID: 35220969
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
    Zastrow DB; Kohler JN; Bonner D; Reuter CM; Fernandez L; Grove ME; Fisk DG; ; Yang Y; Eng CM; Ward PA; Bick D; Worthey EA; Fisher PG; Ashley EA; Bernstein JA; Wheeler MT
    J Genet Couns; 2019 Apr; 28(2):213-228. PubMed ID: 30964584
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
    Wilke MVMB; Klee EW; Dhamija R; Fervenza FC; Thomas B; Leung N; Hogan MC; Hager MM; Kolbert KJ; Kemppainen JL; Loftus EC; Leitzen KM; Vitek CR; McAllister T; Lazaridis KN; Pinto E Vairo F
    Orphanet J Rare Dis; 2024 May; 19(1):216. PubMed ID: 38790019
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
    Nambot S; Thevenon J; Kuentz P; Duffourd Y; Tisserant E; Bruel AL; Mosca-Boidron AL; Masurel-Paulet A; Lehalle D; Jean-Marçais N; Lefebvre M; Vabres P; El Chehadeh-Djebbar S; Philippe C; Tran Mau-Them F; St-Onge J; Jouan T; Chevarin M; Poé C; Carmignac V; Vitobello A; Callier P; Rivière JB; Faivre L; Thauvin-Robinet C;
    Genet Med; 2018 Jun; 20(6):645-654. PubMed ID: 29095811
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.
    Boycott KM; Hartley T; Kernohan KD; Dyment DA; Howley H; Innes AM; Bernier FP; Brudno M;
    Am J Hum Genet; 2022 Nov; 109(11):1947-1959. PubMed ID: 36332610
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
    Zurek B; Ellwanger K; Vissers LELM; Schüle R; Synofzik M; Töpf A; de Voer RM; Laurie S; Matalonga L; Gilissen C; Ossowski S; 't Hoen PAC; Vitobello A; Schulze-Hentrich JM; Riess O; Brunner HG; Brookes AJ; Rath A; Bonne G; Gumus G; Verloes A; Hoogerbrugge N; Evangelista T; Harmuth T; Swertz M; Spalding D; Hoischen A; Beltran S; Graessner H;
    Eur J Hum Genet; 2021 Sep; 29(9):1325-1331. PubMed ID: 34075208
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
    Wright CF; McRae JF; Clayton S; Gallone G; Aitken S; FitzGerald TW; Jones P; Prigmore E; Rajan D; Lord J; Sifrim A; Kelsell R; Parker MJ; Barrett JC; Hurles ME; FitzPatrick DR; Firth HV;
    Genet Med; 2018 Oct; 20(10):1216-1223. PubMed ID: 29323667
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage.
    Barbitoff YA; Polev DE; Glotov AS; Serebryakova EA; Shcherbakova IV; Kiselev AM; Kostareva AA; Glotov OS; Predeus AV
    Sci Rep; 2020 Feb; 10(1):2057. PubMed ID: 32029882
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.