BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

257 related articles for article (PubMed ID: 28851873)

  • 1. Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes.
    Balasubramanian S; Fu Y; Pawashe M; McGillivray P; Jin M; Liu J; Karczewski KJ; MacArthur DG; Gerstein M
    Nat Commun; 2017 Aug; 8(1):382. PubMed ID: 28851873
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Deep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genes.
    Das A; Panitz F; Gregersen VR; Bendixen C; Holm LE
    BMC Genomics; 2015 Dec; 16():1043. PubMed ID: 26645365
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
    Li N; Rowley SM; Thompson ER; McInerny S; Devereux L; Amarasinghe KC; Zethoven M; Lupat R; Goode D; Li J; Trainer AH; Gorringe KL; James PA; Campbell IG
    Breast Cancer Res; 2018 Jan; 20(1):3. PubMed ID: 29316957
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.
    Dou Y; Yang X; Li Z; Wang S; Zhang Z; Ye AY; Yan L; Yang C; Wu Q; Li J; Zhao B; Huang AY; Wei L
    Hum Mutat; 2017 Aug; 38(8):1002-1013. PubMed ID: 28503910
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease.
    Li AH; Morrison AC; Kovar C; Cupples LA; Brody JA; Polfus LM; Yu B; Metcalf G; Muzny D; Veeraraghavan N; Liu X; Lumley T; Mosley TH; Gibbs RA; Boerwinkle E
    Nat Genet; 2015 Jun; 47(6):640-2. PubMed ID: 25915599
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Loss-of-function variants in the genomes of healthy humans.
    MacArthur DG; Tyler-Smith C
    Hum Mol Genet; 2010 Oct; 19(R2):R125-30. PubMed ID: 20805107
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs.
    Agarwal I; Fuller ZL; Myers SR; Przeworski M
    Elife; 2023 Jan; 12():. PubMed ID: 36648429
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A systematic survey of loss-of-function variants in human protein-coding genes.
    MacArthur DG; Balasubramanian S; Frankish A; Huang N; Morris J; Walter K; Jostins L; Habegger L; Pickrell JK; Montgomery SB; Albers CA; Zhang ZD; Conrad DF; Lunter G; Zheng H; Ayub Q; DePristo MA; Banks E; Hu M; Handsaker RE; Rosenfeld JA; Fromer M; Jin M; Mu XJ; Khurana E; Ye K; Kay M; Saunders GI; Suner MM; Hunt T; Barnes IH; Amid C; Carvalho-Silva DR; Bignell AH; Snow C; Yngvadottir B; Bumpstead S; Cooper DN; Xue Y; Romero IG; ; Wang J; Li Y; Gibbs RA; McCarroll SA; Dermitzakis ET; Pritchard JK; Barrett JC; Harrow J; Hurles ME; Gerstein MB; Tyler-Smith C
    Science; 2012 Feb; 335(6070):823-8. PubMed ID: 22344438
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
    Zhou X; Feliciano P; Shu C; Wang T; Astrovskaya I; Hall JB; Obiajulu JU; Wright JR; Murali SC; Xu SX; Brueggeman L; Thomas TR; Marchenko O; Fleisch C; Barns SD; Snyder LG; Han B; Chang TS; Turner TN; Harvey WT; Nishida A; O'Roak BJ; Geschwind DH; ; Michaelson JJ; Volfovsky N; Eichler EE; Shen Y; Chung WK
    Nat Genet; 2022 Sep; 54(9):1305-1319. PubMed ID: 35982159
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
    Sanders SJ; Murtha MT; Gupta AR; Murdoch JD; Raubeson MJ; Willsey AJ; Ercan-Sencicek AG; DiLullo NM; Parikshak NN; Stein JL; Walker MF; Ober GT; Teran NA; Song Y; El-Fishawy P; Murtha RC; Choi M; Overton JD; Bjornson RD; Carriero NJ; Meyer KA; Bilguvar K; Mane SM; Sestan N; Lifton RP; Günel M; Roeder K; Geschwind DH; Devlin B; State MW
    Nature; 2012 Apr; 485(7397):237-41. PubMed ID: 22495306
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
    Kuechler A; Zink AM; Wieland T; Lüdecke HJ; Cremer K; Salviati L; Magini P; Najafi K; Zweier C; Czeschik JC; Aretz S; Endele S; Tamburrino F; Pinato C; Clementi M; Gundlach J; Maylahn C; Mazzanti L; Wohlleber E; Schwarzmayr T; Kariminejad R; Schlessinger A; Wieczorek D; Strom TM; Novarino G; Engels H
    Eur J Hum Genet; 2015 Jun; 23(6):753-60. PubMed ID: 25138099
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes.
    Torrico B; Shaw AD; Mosca R; Vivó-Luque N; Hervás A; Fernàndez-Castillo N; Aloy P; Bayés M; Fullerton JM; Cormand B; Toma C
    J Psychiatry Neurosci; 2019 Sep; 44(5):350-359. PubMed ID: 31094488
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Exome Sequencing of Familial Bipolar Disorder.
    Goes FS; Pirooznia M; Parla JS; Kramer M; Ghiban E; Mavruk S; Chen YC; Monson ET; Willour VL; Karchin R; Flickinger M; Locke AE; Levy SE; Scott LJ; Boehnke M; Stahl E; Moran JL; Hultman CM; Landén M; Purcell SM; Sklar P; Zandi PP; McCombie WR; Potash JB
    JAMA Psychiatry; 2016 Jun; 73(6):590-7. PubMed ID: 27120077
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.
    Lecoquierre F; Duffourd Y; Vitobello A; Bruel AL; Urteaga B; Coubes C; Garret P; Nambot S; Chevarin M; Jouan T; Moutton S; ; Tran-Mau-Them F; Philippe C; Sorlin A; Faivre L; Thauvin-Robinet C
    Genet Med; 2019 Nov; 21(11):2504-2511. PubMed ID: 31036916
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
    Van Hout CV; Tachmazidou I; Backman JD; Hoffman JD; Liu D; Pandey AK; Gonzaga-Jauregui C; Khalid S; Ye B; Banerjee N; Li AH; O'Dushlaine C; Marcketta A; Staples J; Schurmann C; Hawes A; Maxwell E; Barnard L; Lopez A; Penn J; Habegger L; Blumenfeld AL; Bai X; O'Keeffe S; Yadav A; Praveen K; Jones M; Salerno WJ; Chung WK; Surakka I; Willer CJ; Hveem K; Leader JB; Carey DJ; Ledbetter DH; ; Cardon L; Yancopoulos GD; Economides A; Coppola G; Shuldiner AR; Balasubramanian S; Cantor M; ; Nelson MR; Whittaker J; Reid JG; Marchini J; Overton JD; Scott RA; Abecasis GR; Yerges-Armstrong L; Baras A
    Nature; 2020 Oct; 586(7831):749-756. PubMed ID: 33087929
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.
    Chen R; Davis LK; Guter S; Wei Q; Jacob S; Potter MH; Cox NJ; Cook EH; Sutcliffe JS; Li B
    Mol Autism; 2017; 8():14. PubMed ID: 28344757
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.
    Gonzalez-Mantilla AJ; Moreno-De-Luca A; Ledbetter DH; Martin CL
    JAMA Psychiatry; 2016 Mar; 73(3):275-83. PubMed ID: 26817790
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
    Toma C; Torrico B; Hervás A; Valdés-Mas R; Tristán-Noguero A; Padillo V; Maristany M; Salgado M; Arenas C; Puente XS; Bayés M; Cormand B
    Mol Psychiatry; 2014 Jul; 19(7):784-90. PubMed ID: 23999528
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.
    Wang N; Zhang Y; Gedvilaite E; Loh JW; Lin T; Liu X; Liu CG; Kumar D; Donnelly R; Raymond K; Schuchman EH; Sleat DE; Lobel P; Xing J
    Hum Mutat; 2017 Nov; 38(11):1491-1499. PubMed ID: 28703315
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes.
    Spinella JF; Healy J; Saillour V; Richer C; Cassart P; Ouimet M; Sinnett D
    BMC Cancer; 2015 Jul; 15():539. PubMed ID: 26201965
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.