BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

277 related articles for article (PubMed ID: 32959227)

  • 1. Clinical Utility of Next-Generation Sequencing for Developmental Disorders in the Rehabilitation Department: Experiences from a Single Chinese Center.
    Liu Y; Liu X; Qin D; Zhao Y; Cao X; Deng X; Cheng Y; Liu F; Yang F; Zhang T; Yang XA
    J Mol Neurosci; 2021 Apr; 71(4):845-853. PubMed ID: 32959227
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
    Wu R; Li X; Meng Z; Li P; He Z; Liang L
    Orphanet J Rare Dis; 2024 May; 19(1):205. PubMed ID: 38764027
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
    Jiao Q; Sun H; Zhang H; Wang R; Li S; Sun D; Yang XA; Jin Y
    Clin Genet; 2019 Aug; 96(2):140-150. PubMed ID: 30945278
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
    Dong X; Liu B; Yang L; Wang H; Wu B; Liu R; Chen H; Chen X; Yu S; Chen B; Wang S; Xu X; Zhou W; Lu Y
    J Med Genet; 2020 Aug; 57(8):558-566. PubMed ID: 32005694
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.
    Ma H; Zhu L; Yang X; Ao M; Zhang S; Guo M; Dai X; Ma X; Zhang X
    BMC Genomics; 2024 Apr; 25(1):391. PubMed ID: 38649797
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
    Gao C; Wang X; Mei S; Li D; Duan J; Zhang P; Chen B; Han L; Gao Y; Yang Z; Li B; Yang XA
    Front Genet; 2019; 10():485. PubMed ID: 31178897
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
    Prasad A; Sdano MA; Vanzo RJ; Mowery-Rushton PA; Serrano MA; Hensel CH; Wassman ER
    BMC Med Genet; 2018 Mar; 19(1):46. PubMed ID: 29554876
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
    Hiraide T; Yamoto K; Masunaga Y; Asahina M; Endoh Y; Ohkubo Y; Matsubayashi T; Tsurui S; Yamada H; Yanagi K; Nakashima M; Hirano K; Sugimura H; Fukuda T; Ogata T; Saitsu H
    Clin Genet; 2021 Jul; 100(1):40-50. PubMed ID: 33644862
    [TBL] [Abstract][Full Text] [Related]  

  • 9. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
    Enomoto Y; Tsurusaki Y; Yokoi T; Abe-Hatano C; Ida K; Naruto T; Mitsui J; Tsuji S; Morishita S; Kurosawa K
    Eur J Med Genet; 2020 Jan; 63(1):103610. PubMed ID: 30602132
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
    Belkadi A; Bolze A; Itan Y; Cobat A; Vincent QB; Antipenko A; Shang L; Boisson B; Casanova JL; Abel L
    Proc Natl Acad Sci U S A; 2015 Apr; 112(17):5473-8. PubMed ID: 25827230
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.
    Villela D; Costa SS; Vianna-Morgante AM; Krepischi ACV; Rosenberg C
    Eur J Med Genet; 2017 Dec; 60(12):667-674. PubMed ID: 28882788
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort.
    Nazeha N; Koh AL; Kam S; Lim JY; Goh DLM; Jamuar SS; Graves N
    Am J Med Genet A; 2022 Dec; 188(12):3482-3491. PubMed ID: 36156406
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.
    Qi Q; Jiang Y; Zhou X; Meng H; Hao N; Chang J; Bai J; Wang C; Wang M; Guo J; Ouyang Y; Xu Z; Xiao M; Zhang VW; Liu J
    Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33255631
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic Testing for Global Developmental Delay in Early Childhood.
    Zhang J; Xu Y; Liu Y; Yue L; Jin H; Chen Y; Wang D; Wang M; Chen G; Yang L; Zhang G; Zhang X; Li S; Zhao H; Zhao Y; Niu G; Gao Y; Cai Z; Yang F; Zhu C; Zhu D
    JAMA Netw Open; 2024 Jun; 7(6):e2415084. PubMed ID: 38837156
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole exome sequencing in recurrent early pregnancy loss.
    Qiao Y; Wen J; Tang F; Martell S; Shomer N; Leung PC; Stephenson MD; Rajcan-Separovic E
    Mol Hum Reprod; 2016 May; 22(5):364-72. PubMed ID: 26826164
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
    Quenez O; Cassinari K; Coutant S; Lecoquierre F; Le Guennec K; Rousseau S; Richard AC; Vasseur S; Bouvignies E; Bou J; Lienard G; Manase S; Fourneaux S; Drouot N; Nguyen-Viet V; Vezain M; Chambon P; Joly-Helas G; Le Meur N; Castelain M; Boland A; Deleuze JF; ; Tournier I; Charbonnier F; Kasper E; Bougeard G; Frebourg T; Saugier-Veber P; Baert-Desurmont S; Campion D; Rovelet-Lecrux A; Nicolas G
    Eur J Hum Genet; 2021 Jan; 29(1):99-109. PubMed ID: 32591635
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Increased diagnostic yield in complex dystonia through exome sequencing.
    Wirth T; Tranchant C; Drouot N; Keren B; Mignot C; Cif L; Lefaucheur R; Lion-François L; Méneret A; Gras D; Roze E; Laroche C; Burbaud P; Bannier S; Lagha-Boukbiza O; Spitz MA; Laugel V; Bereau M; Ollivier E; Nitschke P; Doummar D; Rudolf G; Anheim M; Chelly J
    Parkinsonism Relat Disord; 2020 May; 74():50-56. PubMed ID: 32334381
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
    Tsang MHY; Chiu ATG; Kwong BMH; Liang R; Yu MHC; Yeung KS; Ho WHL; Mak CCY; Leung GKC; Pei SLC; Fung JLF; Wong VCN; Muntoni F; Chung BHY; Chan SHS
    Mol Genet Genomic Med; 2020 May; 8(5):e1205. PubMed ID: 32154989
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical exome sequencing for genetic identification of rare Mendelian disorders.
    Lee H; Deignan JL; Dorrani N; Strom SP; Kantarci S; Quintero-Rivera F; Das K; Toy T; Harry B; Yourshaw M; Fox M; Fogel BL; Martinez-Agosto JA; Wong DA; Chang VY; Shieh PB; Palmer CG; Dipple KM; Grody WW; Vilain E; Nelson SF
    JAMA; 2014 Nov; 312(18):1880-7. PubMed ID: 25326637
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.