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 *

215 related articles for article (PubMed ID: 34764282)

  • 1. Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation.
    Wu Z; Jiang Z; Li T; Xie C; Zhao L; Yang J; Ouyang S; Liu Y; Li T; Xie Z
    Nat Commun; 2021 Nov; 12(1):6501. PubMed ID: 34764282
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Importance of Sequencing
    Filser M; Gardie B; Wemeau M; Aguilar-Martinez P; Giansily-Blaizot M; Girodon F
    Genes (Basel); 2022 Jan; 13(1):. PubMed ID: 35052472
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
    Scheps KG; Hasenahuer MA; Parisi G; Targovnik HM; Fornasari MS
    Hum Mutat; 2020 Jan; 41(1):81-102. PubMed ID: 31553106
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Mapping and characterization of structural variation in 17,795 human genomes.
    Abel HJ; Larson DE; Regier AA; Chiang C; Das I; Kanchi KL; Layer RM; Neale BM; Salerno WJ; Reeves C; Buyske S; ; Matise TC; Muzny DM; Zody MC; Lander ES; Dutcher SK; Stitziel NO; Hall IM
    Nature; 2020 Jul; 583(7814):83-89. PubMed ID: 32460305
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
    Henderson SJ; Timbs AT; McCarthy J; Gallienne AE; Proven M; Rugless MJ; Lopez H; Eglinton J; Dziedzic D; Beardsall M; Khalil MS; Old JM
    Hemoglobin; 2016; 40(2):75-84. PubMed ID: 26635043
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The mutational constraint spectrum quantified from variation in 141,456 humans.
    Karczewski KJ; Francioli LC; Tiao G; Cummings BB; Alföldi J; Wang Q; Collins RL; Laricchia KM; Ganna A; Birnbaum DP; Gauthier LD; Brand H; Solomonson M; Watts NA; Rhodes D; Singer-Berk M; England EM; Seaby EG; Kosmicki JA; Walters RK; Tashman K; Farjoun Y; Banks E; Poterba T; Wang A; Seed C; Whiffin N; Chong JX; Samocha KE; Pierce-Hoffman E; Zappala Z; O'Donnell-Luria AH; Minikel EV; Weisburd B; Lek M; Ware JS; Vittal C; Armean IM; Bergelson L; Cibulskis K; Connolly KM; Covarrubias M; Donnelly S; Ferriera S; Gabriel S; Gentry J; Gupta N; Jeandet T; Kaplan D; Llanwarne C; Munshi R; Novod S; Petrillo N; Roazen D; Ruano-Rubio V; Saltzman A; Schleicher M; Soto J; Tibbetts K; Tolonen C; Wade G; Talkowski ME; ; Neale BM; Daly MJ; MacArthur DG
    Nature; 2020 May; 581(7809):434-443. PubMed ID: 32461654
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Report of Two Novel Thalassemia Variants,
    Chen X; Lin Z; Hu J; Chen S; Wen S; Wu A; Wu H; Huang J; Wang H; Sun J; Peng Z; Sun Y; Fu S
    Hemoglobin; 2021 Jan; 45(1):52-55. PubMed ID: 33792470
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.
    Hunt KA; Mistry V; Bockett NA; Ahmad T; Ban M; Barker JN; Barrett JC; Blackburn H; Brand O; Burren O; Capon F; Compston A; Gough SC; Jostins L; Kong Y; Lee JC; Lek M; MacArthur DG; Mansfield JC; Mathew CG; Mein CA; Mirza M; Nutland S; Onengut-Gumuscu S; Papouli E; Parkes M; Rich SS; Sawcer S; Satsangi J; Simmonds MJ; Trembath RC; Walker NM; Wozniak E; Todd JA; Simpson MA; Plagnol V; van Heel DA
    Nature; 2013 Jun; 498(7453):232-5. PubMed ID: 23698362
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.
    Auer PL; Nalls M; Meschia JF; Worrall BB; Longstreth WT; Seshadri S; Kooperberg C; Burger KM; Carlson CS; Carty CL; Chen WM; Cupples LA; DeStefano AL; Fornage M; Hardy J; Hsu L; Jackson RD; Jarvik GP; Kim DS; Lakshminarayan K; Lange LA; Manichaikul A; Quinlan AR; Singleton AB; Thornton TA; Nickerson DA; Peters U; Rich SS;
    JAMA Neurol; 2015 Jul; 72(7):781-8. PubMed ID: 25961151
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
    Taliun D; Harris DN; Kessler MD; Carlson J; Szpiech ZA; Torres R; Taliun SAG; Corvelo A; Gogarten SM; Kang HM; Pitsillides AN; LeFaive J; Lee SB; Tian X; Browning BL; Das S; Emde AK; Clarke WE; Loesch DP; Shetty AC; Blackwell TW; Smith AV; Wong Q; Liu X; Conomos MP; Bobo DM; Aguet F; Albert C; Alonso A; Ardlie KG; Arking DE; Aslibekyan S; Auer PL; Barnard J; Barr RG; Barwick L; Becker LC; Beer RL; Benjamin EJ; Bielak LF; Blangero J; Boehnke M; Bowden DW; Brody JA; Burchard EG; Cade BE; Casella JF; Chalazan B; Chasman DI; Chen YI; Cho MH; Choi SH; Chung MK; Clish CB; Correa A; Curran JE; Custer B; Darbar D; Daya M; de Andrade M; DeMeo DL; Dutcher SK; Ellinor PT; Emery LS; Eng C; Fatkin D; Fingerlin T; Forer L; Fornage M; Franceschini N; Fuchsberger C; Fullerton SM; Germer S; Gladwin MT; Gottlieb DJ; Guo X; Hall ME; He J; Heard-Costa NL; Heckbert SR; Irvin MR; Johnsen JM; Johnson AD; Kaplan R; Kardia SLR; Kelly T; Kelly S; Kenny EE; Kiel DP; Klemmer R; Konkle BA; Kooperberg C; Köttgen A; Lange LA; Lasky-Su J; Levy D; Lin X; Lin KH; Liu C; Loos RJF; Garman L; Gerszten R; Lubitz SA; Lunetta KL; Mak ACY; Manichaikul A; Manning AK; Mathias RA; McManus DD; McGarvey ST; Meigs JB; Meyers DA; Mikulla JL; Minear MA; Mitchell BD; Mohanty S; Montasser ME; Montgomery C; Morrison AC; Murabito JM; Natale A; Natarajan P; Nelson SC; North KE; O'Connell JR; Palmer ND; Pankratz N; Peloso GM; Peyser PA; Pleiness J; Post WS; Psaty BM; Rao DC; Redline S; Reiner AP; Roden D; Rotter JI; Ruczinski I; Sarnowski C; Schoenherr S; Schwartz DA; Seo JS; Seshadri S; Sheehan VA; Sheu WH; Shoemaker MB; Smith NL; Smith JA; Sotoodehnia N; Stilp AM; Tang W; Taylor KD; Telen M; Thornton TA; Tracy RP; Van Den Berg DJ; Vasan RS; Viaud-Martinez KA; Vrieze S; Weeks DE; Weir BS; Weiss ST; Weng LC; Willer CJ; Zhang Y; Zhao X; Arnett DK; Ashley-Koch AE; Barnes KC; Boerwinkle E; Gabriel S; Gibbs R; Rice KM; Rich SS; Silverman EK; Qasba P; Gan W; ; Papanicolaou GJ; Nickerson DA; Browning SR; Zody MC; Zöllner S; Wilson JG; Cupples LA; Laurie CC; Jaquish CE; Hernandez RD; O'Connor TD; Abecasis GR
    Nature; 2021 Feb; 590(7845):290-299. PubMed ID: 33568819
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A map of human genome variation from population-scale sequencing.
    ; Abecasis GR; Altshuler D; Auton A; Brooks LD; Durbin RM; Gibbs RA; Hurles ME; McVean GA
    Nature; 2010 Oct; 467(7319):1061-73. PubMed ID: 20981092
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Accurate genotyping across variant classes and lengths using variant graphs.
    Sibbesen JA; Maretty L; ; Krogh A
    Nat Genet; 2018 Jul; 50(7):1054-1059. PubMed ID: 29915429
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations.
    Ji Y; Zhao J; Gong J; Sedlazeck FJ; Fan S
    Mol Genet Genomics; 2024 Jul; 299(1):65. PubMed ID: 38972030
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
    Bodian DL; McCutcheon JN; Kothiyal P; Huddleston KC; Iyer RK; Vockley JG; Niederhuber JE
    PLoS One; 2014; 9(4):e94554. PubMed ID: 24728327
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hb Milano [α109(G16)Leu→Pro (C
    Curcio C; Giannone V; Benzoni E; Cesaretti C; Ivaldi G
    Hemoglobin; 2019 Jan; 43(1):4-6. PubMed ID: 31084368
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
    Carss KJ; Arno G; Erwood M; Stephens J; Sanchis-Juan A; Hull S; Megy K; Grozeva D; Dewhurst E; Malka S; Plagnol V; Penkett C; Stirrups K; Rizzo R; Wright G; Josifova D; Bitner-Glindzicz M; Scott RH; Clement E; Allen L; Armstrong R; Brady AF; Carmichael J; Chitre M; Henderson RHH; Hurst J; MacLaren RE; Murphy E; Paterson J; Rosser E; Thompson DA; Wakeling E; Ouwehand WH; Michaelides M; Moore AT; ; Webster AR; Raymond FL
    Am J Hum Genet; 2017 Jan; 100(1):75-90. PubMed ID: 28041643
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
    Whiffin N; Karczewski KJ; Zhang X; Chothani S; Smith MJ; Evans DG; Roberts AM; Quaife NM; Schafer S; Rackham O; Alföldi J; O'Donnell-Luria AH; Francioli LC; ; ; Cook SA; Barton PJR; MacArthur DG; Ware JS
    Nat Commun; 2020 May; 11(1):2523. PubMed ID: 32461616
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
    Smedley D; Schubach M; Jacobsen JOB; Köhler S; Zemojtel T; Spielmann M; Jäger M; Hochheiser H; Washington NL; McMurry JA; Haendel MA; Mungall CJ; Lewis SE; Groza T; Valentini G; Robinson PN
    Am J Hum Genet; 2016 Sep; 99(3):595-606. PubMed ID: 27569544
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
    Zheng HF; Forgetta V; Hsu YH; Estrada K; Rosello-Diez A; Leo PJ; Dahia CL; Park-Min KH; Tobias JH; Kooperberg C; Kleinman A; Styrkarsdottir U; Liu CT; Uggla C; Evans DS; Nielson CM; Walter K; Pettersson-Kymmer U; McCarthy S; Eriksson J; Kwan T; Jhamai M; Trajanoska K; Memari Y; Min J; Huang J; Danecek P; Wilmot B; Li R; Chou WC; Mokry LE; Moayyeri A; Claussnitzer M; Cheng CH; Cheung W; Medina-Gómez C; Ge B; Chen SH; Choi K; Oei L; Fraser J; Kraaij R; Hibbs MA; Gregson CL; Paquette D; Hofman A; Wibom C; Tranah GJ; Marshall M; Gardiner BB; Cremin K; Auer P; Hsu L; Ring S; Tung JY; Thorleifsson G; Enneman AW; van Schoor NM; de Groot LC; van der Velde N; Melin B; Kemp JP; Christiansen C; Sayers A; Zhou Y; Calderari S; van Rooij J; Carlson C; Peters U; Berlivet S; Dostie J; Uitterlinden AG; Williams SR; Farber C; Grinberg D; LaCroix AZ; Haessler J; Chasman DI; Giulianini F; Rose LM; Ridker PM; Eisman JA; Nguyen TV; Center JR; Nogues X; Garcia-Giralt N; Launer LL; Gudnason V; Mellström D; Vandenput L; Amin N; van Duijn CM; Karlsson MK; Ljunggren Ö; Svensson O; Hallmans G; Rousseau F; Giroux S; Bussière J; Arp PP; Koromani F; Prince RL; Lewis JR; Langdahl BL; Hermann AP; Jensen JE; Kaptoge S; Khaw KT; Reeve J; Formosa MM; Xuereb-Anastasi A; Åkesson K; McGuigan FE; Garg G; Olmos JM; Zarrabeitia MT; Riancho JA; Ralston SH; Alonso N; Jiang X; Goltzman D; Pastinen T; Grundberg E; Gauguier D; Orwoll ES; Karasik D; Davey-Smith G; ; Smith AV; Siggeirsdottir K; Harris TB; Zillikens MC; van Meurs JB; Thorsteinsdottir U; Maurano MT; Timpson NJ; Soranzo N; Durbin R; Wilson SG; Ntzani EE; Brown MA; Stefansson K; Hinds DA; Spector T; Cupples LA; Ohlsson C; Greenwood CM; ; Jackson RD; Rowe DW; Loomis CA; Evans DM; Ackert-Bicknell CL; Joyner AL; Duncan EL; Kiel DP; Rivadeneira F; Richards JB
    Nature; 2015 Oct; 526(7571):112-7. PubMed ID: 26367794
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.