BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

402 related articles for article (PubMed ID: 32393978)

  • 1. Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies.
    Seaby EG; Ennis S
    Brief Funct Genomics; 2020 Jul; 19(4):243-258. PubMed ID: 32393978
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Toward Clinical Implementation of Next-Generation Sequencing-Based Genetic Testing in Rare Diseases: Where Are We?
    Liu Z; Zhu L; Roberts R; Tong W
    Trends Genet; 2019 Nov; 35(11):852-867. PubMed ID: 31623871
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.
    Barbitoff YA; Ushakov MO; Lazareva TE; Nasykhova YA; Glotov AS; Predeus AV
    Brief Bioinform; 2024 Jan; 25(2):. PubMed ID: 38271481
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.
    Shen T; Lee A; Shen C; Lin CJ
    Genet Res (Camb); 2015 Sep; 97():e15. PubMed ID: 26365496
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Next-generation sequencing applied to rare diseases genomics.
    Danielsson K; Mun LJ; Lordemann A; Mao J; Lin CH
    Expert Rev Mol Diagn; 2014 May; 14(4):469-87. PubMed ID: 24702023
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.
    McInerney-Leo AM; Duncan EL
    Front Endocrinol (Lausanne); 2020; 11():628946. PubMed ID: 33679611
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases.
    Krämer A; Shah S; Rebres RA; Tang S; Richards DR
    BMC Genomics; 2017 Aug; 18(Suppl 5):551. PubMed ID: 28812537
    [TBL] [Abstract][Full Text] [Related]  

  • 11. CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.
    Royer-Bertrand B; Cisarova K; Niel-Butschi F; Mittaz-Crettol L; Fodstad H; Superti-Furga A
    Genes (Basel); 2021 Sep; 12(9):. PubMed ID: 34573409
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.
    Tetreault M; Bareke E; Nadaf J; Alirezaie N; Majewski J
    Expert Rev Mol Diagn; 2015 Jun; 15(6):749-60. PubMed ID: 25959410
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.
    Bacchelli C; Williams HJ
    Expert Rev Mol Diagn; 2016 Oct; 16(10):1073-1082. PubMed ID: 27560481
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.
    Worthey EA
    Curr Protoc Hum Genet; 2013 Oct; 79():9.24.1-9.24.24. PubMed ID: 24510652
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical validation of targeted next-generation sequencing for inherited disorders.
    Yohe S; Hauge A; Bunjer K; Kemmer T; Bower M; Schomaker M; Onsongo G; Wilson J; Erdmann J; Zhou Y; Deshpande A; Spears MD; Beckman K; Silverstein KA; Thyagarajan B
    Arch Pathol Lab Med; 2015 Feb; 139(2):204-10. PubMed ID: 25611102
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data.
    Demidov G; Park J; Armeanu-Ebinger S; Roggia C; Faust U; Cordts I; Blandfort M; Haack TB; Schroeder C; Ossowski S
    Mol Genet Genomic Med; 2021 Dec; 9(12):e1807. PubMed ID: 34491624
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Diagnosis of genetic disorders in childhood with next-generation sequencing].
    Menyhárt O; Győrffy B; Szabó A
    Orv Hetil; 2022 Dec; 163(51):2027-2040. PubMed ID: 36528826
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Next Generation Sequencing (NGS) Strategies for Genetic Testing of Cerebral Cavernous Malformation (CCM) Disease.
    Benedetti V; Pellegrino E; Brusco A; Piva R; Retta SF
    Methods Mol Biol; 2020; 2152():59-75. PubMed ID: 32524544
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Recommendations for whole genome sequencing in diagnostics for rare diseases.
    Souche E; Beltran S; Brosens E; Belmont JW; Fossum M; Riess O; Gilissen C; Ardeshirdavani A; Houge G; van Gijn M; Clayton-Smith J; Synofzik M; de Leeuw N; Deans ZC; Dincer Y; Eck SH; van der Crabben S; Balasubramanian M; Graessner H; Sturm M; Firth H; Ferlini A; Nabbout R; De Baere E; Liehr T; Macek M; Matthijs G; Scheffer H; Bauer P; Yntema HG; Weiss MM
    Eur J Hum Genet; 2022 Sep; 30(9):1017-1021. PubMed ID: 35577938
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The genomic landscape of rare disorders in the Middle East.
    El Naofal M; Ramaswamy S; Alsarhan A; Nugud A; Sarfraz F; Janbaz H; Taylor A; Jain R; Halabi N; Yaslam S; Alfalasi R; Shenbagam S; Rabea F; Bitzan M; Yavuz L; Wafadari D; Abulhoul H; Shankar S; Al Maazmi M; Rizk R; Alloub Z; Elbashir H; Babiker MOE; Chencheri N; AlBanna A; Sultan M; El Bitar M; Kherani S; Thalange N; Alshryda S; Di Donato R; Tzivinikos C; Majid I; Freeman AF; Gonzalez C; Khan AO; Hamdan H; Abuhammour W; AlAwadhi M; AlKhayat A; Alsheikh-Ali A; Abou Tayoun AN
    Genome Med; 2023 Jan; 15(1):5. PubMed ID: 36703223
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.