BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

337 related articles for article (PubMed ID: 34740920)

  • 1. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
    Cloney T; Gallacher L; Pais LS; Tan NB; Yeung A; Stark Z; Brown NJ; McGillivray G; Delatycki MB; de Silva MG; Downie L; Stutterd CA; Elliott J; Compton AG; Lovgren A; Oertel R; Francis D; Bell KM; Sadedin S; Lim SC; Helman G; Simons C; Macarthur DG; Thorburn DR; O'Donnell-Luria AH; Christodoulou J; White SM; Tan TY
    J Med Genet; 2022 Aug; 59(8):748-758. PubMed ID: 34740920
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis.
    Pucel J; Briere LC; Reuter C; Gochyyev P; ; LeBlanc K
    Genet Med; 2024 Jun; 26(6):101115. PubMed ID: 38436216
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
    Ediae GU; Lemire G; Chisholm C; Hartley T; Eaton A; Osmond M; Rojas SK; Huang L; Gillespie M; ; Sawyer SL; Boycott KM
    Am J Med Genet A; 2023 Feb; 191(2):338-347. PubMed ID: 36331261
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
    Shashi V; Schoch K; Spillmann R; Cope H; Tan QK; Walley N; Pena L; McConkie-Rosell A; Jiang YH; Stong N; Need AC; Goldstein DB;
    Genet Med; 2019 Jan; 21(1):161-172. PubMed ID: 29907797
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
    Schuermans N; Hemelsoet D; Terryn W; Steyaert S; Van Coster R; Coucke PJ; Steyaert W; Callewaert B; Bogaert E; Verloo P; Vanlander AV; Debackere E; Ghijsels J; LeBlanc P; Verdin H; Naesens L; Haerynck F; Callens S; Dermaut B; Poppe B;
    Orphanet J Rare Dis; 2022 May; 17(1):210. PubMed ID: 35606766
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
    Montano C; Cassini T; Ziegler SG; Boehm M; Nicoli ER; Mindell JA; Soldatos AG; Manoli I; Wolfe L; Macnamara EF; Malicdan MCV; Adams DR; Tifft CJ; Toro C; Gahl WA
    J Inherit Metab Dis; 2022 Sep; 45(5):907-918. PubMed ID: 35490291
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
    Hartley T; Marshall D; Acker M; Fooks K; Gillespie MK; Price EM; Graham ID; White-Brown A; MacKay L; Macdonald SK; Brady L; Hui AY; Andrews JD; Chowdhury A; Wall E; Soubry É; Ediae GU; Rojas S; Assamad D; Dyment D; Tarnopolsky M; Sawyer SL; Chisholm C; Lemire G; Amburgey K; Lazier J; Mendoza-Londono R; Dowling JJ; Balci TB; Armour CM; Bhola PT; Costain G; Dupuis L; Carter M; Badalato L; Richer J; Boswell-Patterson C; Kannu P; Cordeiro D; Warman-Chardon J; Graham G; Siu VM; Cytrynbaum C; Rusnak A; Aul RB; Yoon G; Gonorazky H; McNiven V; Mercimek-Andrews S; Guerin A; Deshwar AR; Marwaha A; Weksberg R; Karp N; Campbell M; Al-Qattan S; Shuen AY; Inbar-Feigenberg M; Cohn R; Szuto A; Inglese C; Poirier M; Chad L; Potter B; Boycott KM; Hayeems R;
    Genet Med; 2024 Feb; 26(2):101012. PubMed ID: 37924259
    [TBL] [Abstract][Full Text] [Related]  

  • 16. International Undiagnosed Diseases Programs (UDPs): components and outcomes.
    Curic E; Ewans L; Pysar R; Taylan F; Botto LD; Nordgren A; Gahl W; Palmer EE
    Orphanet J Rare Dis; 2023 Nov; 18(1):348. PubMed ID: 37946247
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
    Wijngaard R; Demidov G; O'Gorman L; Corominas-Galbany J; Yaldiz B; Steyaert W; de Boer E; Vissers LELM; Kamsteeg EJ; Pfundt R; Swinkels H; den Ouden A; Te Paske IBAW; de Voer RM; Faivre L; Denommé-Pichon AS; Duffourd Y; Vitobello A; Chevarin M; Straub V; Töpf A; van der Kooi AJ; Magrinelli F; Rocca C; Hanna MG; Vandrovcova J; ; Ossowski S; Laurie S; Gilissen C
    Eur J Hum Genet; 2024 Feb; 32(2):200-208. PubMed ID: 37853102
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
    Lee H; Huang AY; Wang LK; Yoon AJ; Renteria G; Eskin A; Signer RH; Dorrani N; Nieves-Rodriguez S; Wan J; Douine ED; Woods JD; Dell'Angelica EC; Fogel BL; Martin MG; Butte MJ; Parker NH; Wang RT; Shieh PB; Wong DA; Gallant N; Singh KE; Tavyev Asher YJ; Sinsheimer JS; Krakow D; Loo SK; Allard P; Papp JC; ; Palmer CGS; Martinez-Agosto JA; Nelson SF
    Genet Med; 2020 Mar; 22(3):490-499. PubMed ID: 31607746
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations.
    Chung CCY; Hue SPY; Ng NYT; Doong PHL; ; Chu ATW; Chung BHY
    Genet Med; 2023 Sep; 25(9):100896. PubMed ID: 37191093
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.