BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

140 related articles for article (PubMed ID: 23453690)

  • 1. Point mutations as a source of de novo genetic disease.
    de Ligt J; Veltman JA; Vissers LE
    Curr Opin Genet Dev; 2013 Jun; 23(3):257-63. PubMed ID: 23453690
    [TBL] [Abstract][Full Text] [Related]  

  • 2. From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease.
    Ku CS; Tan EK; Cooper DN
    J Med Genet; 2013 Apr; 50(4):203-11. PubMed ID: 23396985
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.
    Belyeu JR; Brand H; Wang H; Zhao X; Pedersen BS; Feusier J; Gupta M; Nicholas TJ; Brown J; Baird L; Devlin B; Sanders SJ; Jorde LB; Talkowski ME; Quinlan AR
    Am J Hum Genet; 2021 Apr; 108(4):597-607. PubMed ID: 33675682
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.
    Ku CS; Polychronakos C; Tan EK; Naidoo N; Pawitan Y; Roukos DH; Mort M; Cooper DN
    Mol Psychiatry; 2013 Feb; 18(2):141-53. PubMed ID: 22641181
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Somatic Mutagenesis in Mammals and Its Implications for Human Disease and Aging.
    Zhang L; Vijg J
    Annu Rev Genet; 2018 Nov; 52():397-419. PubMed ID: 30212236
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
    Jónsson H; Sulem P; Kehr B; Kristmundsdottir S; Zink F; Hjartarson E; Hardarson MT; Hjorleifsson KE; Eggertsson HP; Gudjonsson SA; Ward LD; Arnadottir GA; Helgason EA; Helgason H; Gylfason A; Jonasdottir A; Jonasdottir A; Rafnar T; Frigge M; Stacey SN; Th Magnusson O; Thorsteinsdottir U; Masson G; Kong A; Halldorsson BV; Helgason A; Gudbjartsson DF; Stefansson K
    Nature; 2017 Sep; 549(7673):519-522. PubMed ID: 28959963
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.
    Arnheim N; Calabrese P
    Annu Rev Genomics Hum Genet; 2016 Aug; 17():219-43. PubMed ID: 27070266
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases.
    Kondrashov AS
    Hum Mutat; 2003 Jan; 21(1):12-27. PubMed ID: 12497628
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.
    Aretz S; Uhlhaas S; Caspari R; Mangold E; Pagenstecher C; Propping P; Friedl W
    Eur J Hum Genet; 2004 Jan; 12(1):52-8. PubMed ID: 14523376
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Parent-of-origin-specific signatures of de novo mutations.
    Goldmann JM; Wong WS; Pinelli M; Farrah T; Bodian D; Stittrich AB; Glusman G; Vissers LE; Hoischen A; Roach JC; Vockley JG; Veltman JA; Solomon BD; Gilissen C; Niederhuber JE
    Nat Genet; 2016 Aug; 48(8):935-9. PubMed ID: 27322544
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Direct estimate of the rate of germline mutation in a bird.
    Smeds L; Qvarnström A; Ellegren H
    Genome Res; 2016 Sep; 26(9):1211-8. PubMed ID: 27412854
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.
    Santani A; Murrell J; Funke B; Yu Z; Hegde M; Mao R; Ferreira-Gonzalez A; Voelkerding KV; Weck KE
    Arch Pathol Lab Med; 2017 Jun; 141(6):787-797. PubMed ID: 28322587
    [TBL] [Abstract][Full Text] [Related]  

  • 13. High frequency of de novo mutations in Li-Fraumeni syndrome.
    Gonzalez KD; Buzin CH; Noltner KA; Gu D; Li W; Malkin D; Sommer SS
    J Med Genet; 2009 Oct; 46(10):689-93. PubMed ID: 19556618
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Assessing human germ-cell mutagenesis in the Postgenome Era: a celebration of the legacy of William Lawson (Bill) Russell.
    Wyrobek AJ; Mulvihill JJ; Wassom JS; Malling HV; Shelby MD; Lewis SE; Witt KL; Preston RJ; Perreault SD; Allen JW; Demarini DM; Woychik RP; Bishop JB
    Environ Mol Mutagen; 2007 Mar; 48(2):71-95. PubMed ID: 17295306
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identifying disease-causing mutations in genomes of single patients by computational approaches.
    Sevim Bayrak C; Itan Y
    Hum Genet; 2020 Jun; 139(6-7):769-776. PubMed ID: 32405658
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Somatic point mutations occurring early in development: a monozygotic twin study.
    Li R; Montpetit A; Rousseau M; Wu SY; Greenwood CM; Spector TD; Pollak M; Polychronakos C; Richards JB
    J Med Genet; 2014 Jan; 51(1):28-34. PubMed ID: 24123875
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Structural variants deconstruct the genome.
    Nat Genet; 2006 Sep; 38(9):959. PubMed ID: 16940994
    [TBL] [Abstract][Full Text] [Related]  

  • 18. New observations on maternal age effect on germline de novo mutations.
    Wong WS; Solomon BD; Bodian DL; Kothiyal P; Eley G; Huddleston KC; Baker R; Thach DC; Iyer RK; Vockley JG; Niederhuber JE
    Nat Commun; 2016 Jan; 7():10486. PubMed ID: 26781218
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing.
    Peters BA; Kermani BG; Alferov O; Agarwal MR; McElwain MA; Gulbahce N; Hayden DM; Tang YT; Zhang RY; Tearle R; Crain B; Prates R; Berkeley A; Munné S; Drmanac R
    Genome Res; 2015 Mar; 25(3):426-34. PubMed ID: 25672852
    [TBL] [Abstract][Full Text] [Related]  

  • 20. BRCA1 germline mutational spectrum in Italian families from Tuscany: a high frequency of novel mutations.
    Caligo MA; Ghimenti C; Cipollini G; Ricci S; Brunetti I; Marchetti V; Olsen R; Neuhausen S; Shattuck-Eidens D; Conte PF; Skolnick MH; Bevilacqua G
    Oncogene; 1996 Oct; 13(7):1483-8. PubMed ID: 8875986
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.