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 *

76 related articles for article (PubMed ID: 24986828)

  • 1. Using whole-exome sequencing to identify variants inherited from mosaic parents.
    Rios JJ; Delgado MR
    Eur J Hum Genet; 2015 Apr; 23(4):547-50. PubMed ID: 24986828
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Diverse genetic causes of polymicrogyria with epilepsy.
    Epilepsy Phenome/Genome Project, Epi4K Consortium
    Epilepsia; 2021 Apr; 62(4):973-983. PubMed ID: 33818783
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Robust identification of mosaic variants in congenital heart disease.
    Manheimer KB; Richter F; Edelmann LJ; D'Souza SL; Shi L; Shen Y; Homsy J; Boskovski MT; Tai AC; Gorham J; Yasso C; Goldmuntz E; Brueckner M; Lifton RP; Chung WK; Seidman CE; Seidman JG; Gelb BD
    Hum Genet; 2018 Feb; 137(2):183-193. PubMed ID: 29417219
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
    Tinker RJ; Bastarache L; Ezell K; Kobren SN; Esteves C; Rosenfeld JA; Macnamara EF; Hamid R; Cogan JD; Rinker D; Mukharjee S; Glass I; Dipple K; Phillips JA;
    Am J Med Genet A; 2023 Oct; 191(10):2482-2492. PubMed ID: 37246601
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.
    Chapman NH; Nato AQ; Bernier R; Ankenman K; Sohi H; Munson J; Patowary A; Archer M; Blue EM; Webb SJ; Coon H; Raskind WH; Brkanac Z; Wijsman EM
    Hum Genet; 2015 Oct; 134(10):1055-68. PubMed ID: 26204995
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA.
    Schafer CM; Campbell NG; Cai G; Yu F; Makarov V; Yoon S; Daly MJ; Gibbs RA; Schellenberg GD; Devlin B; Sutcliffe JS; Buxbaum JD; Roeder K
    Genomics; 2013 Oct; 102(4):270-7. PubMed ID: 23743231
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.
    Chesneau B; Ivashchenko V; Habib C; Gaston V; Escudié F; Morel G; Capri Y; Vincent-Delorme C; Calvas P; Chassaing N; Plaisancié J
    Eur J Hum Genet; 2023 May; 31(5):526-530. PubMed ID: 36404347
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data.
    Sandran NG; Fornarino DL; Corbett MA; Kroes T; Gardner AE; MacLennan AH; Gécz J; van Eyk CL
    Genet Med; 2024 Jul; ():101220. PubMed ID: 39041334
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Whole Exome Sequencing as an Effective Molecular Diagnosis Tool for Craniofacial Fibrous Dysplasia with Ocular Complications.
    Shen B; Fang Y; Dai Q; Xie Q; Wu W; Wang M
    Curr Eye Res; 2024 May; ():1-8. PubMed ID: 38708814
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
    Thormann A; Halachev M; McLaren W; Moore DJ; Svinti V; Campbell A; Kerr SM; Tischkowitz M; Hunt SE; Dunlop MG; Hurles ME; Wright CF; Firth HV; Cunningham F; FitzPatrick DR
    Nat Commun; 2019 May; 10(1):2373. PubMed ID: 31147538
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.
    Moghimi P; Hashemi-Gorji F; Jamshidi S; Tehrani Fateh S; Salehpour S; Sadeghi H; Norouzi Rostami F; Mirfakhraie R; Miryounesi M; Ghasemi MR
    Biochem Genet; 2024 Apr; ():. PubMed ID: 38619706
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia.
    Tang H; Zhang Q; Xiang J; Yin L; Wang J; Wang T
    Front Genet; 2021; 12():599863. PubMed ID: 33777089
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.
    Mio C; Zucco J; Fabbro D; Bregant E; Baldan F; Allegri L; D'Elia AV; Collini V; Imazio M; Damante G; Faletra F
    Clin Genet; 2024 Jun; ():. PubMed ID: 38837338
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rare
    Oka A; Hadano S; Ueda MT; Nakagawa S; Komaki G; Ando T
    Heliyon; 2024 Apr; 10(8):e28643. PubMed ID: 38644811
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure.
    Henarejos-Castillo I; Aleman A; Martinez-Montoro B; Gracia-Aznárez FJ; Sebastian-Leon P; Romeu M; Remohi J; Patiño-Garcia A; Royo P; Alkorta-Aranburu G; Diaz-Gimeno P
    J Pers Med; 2021 Jun; 11(7):. PubMed ID: 34199109
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Common and rare variants in genetic susceptibility analysis of mature B-cell neoplasm subtypes by whole exome sequencing.
    Lin J; Shen M; Xiao W; Chen Y; Yu S; Meng Y
    Leukemia; 2024 Jul; ():. PubMed ID: 38965369
    [No Abstract]   [Full Text] [Related]  

  • 17. Molecular findings among patients referred for clinical whole-exome sequencing.
    Yang Y; Muzny DM; Xia F; Niu Z; Person R; Ding Y; Ward P; Braxton A; Wang M; Buhay C; Veeraraghavan N; Hawes A; Chiang T; Leduc M; Beuten J; Zhang J; He W; Scull J; Willis A; Landsverk M; Craigen WJ; Bekheirnia MR; Stray-Pedersen A; Liu P; Wen S; Alcaraz W; Cui H; Walkiewicz M; Reid J; Bainbridge M; Patel A; Boerwinkle E; Beaudet AL; Lupski JR; Plon SE; Gibbs RA; Eng CM
    JAMA; 2014 Nov; 312(18):1870-9. PubMed ID: 25326635
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a large set of rare complete human knockouts.
    Sulem P; Helgason H; Oddson A; Stefansson H; Gudjonsson SA; Zink F; Hjartarson E; Sigurdsson GT; Jonasdottir A; Jonasdottir A; Sigurdsson A; Magnusson OT; Kong A; Helgason A; Holm H; Thorsteinsdottir U; Masson G; Gudbjartsson DF; Stefansson K
    Nat Genet; 2015 May; 47(5):448-52. PubMed ID: 25807282
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
    Kancheva D; Chamova T; Guergueltcheva V; Mitev V; Azmanov DN; Kalaydjieva L; Tournev I; Jordanova A
    Mov Disord; 2015 May; 30(6):854-8. PubMed ID: 25772097
    [TBL] [Abstract][Full Text] [Related]  

  • 20. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.
    Sobreira N; Schiettecatte F; Boehm C; Valle D; Hamosh A
    Hum Mutat; 2015 Apr; 36(4):425-31. PubMed ID: 25684268
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.