BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

465 related articles for article (PubMed ID: 23819467)

  • 21. Path: a tool to facilitate pathway-based genetic association analysis.
    Zamar D; Tripp B; Ellis G; Daley D
    Bioinformatics; 2009 Sep; 25(18):2444-6. PubMed ID: 19628508
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly.
    Xiang Y; Jiang L; Wang B; Xu Y; Cai H; Fu Q
    Dev Dyn; 2017 May; 246(5):392-402. PubMed ID: 28127823
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Genome analysis and knowledge-driven variant interpretation with TGex.
    Dahary D; Golan Y; Mazor Y; Zelig O; Barshir R; Twik M; Iny Stein T; Rosner G; Kariv R; Chen F; Zhang Q; Shen Y; Safran M; Lancet D; Fishilevich S
    BMC Med Genomics; 2019 Dec; 12(1):200. PubMed ID: 31888639
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
    Sobreira N; Brucato M; Zhang L; Ladd-Acosta C; Ongaco C; Romm J; Doheny KF; Mingroni-Netto RC; Bertola D; Kim CA; Perez AB; Melaragno MI; Valle D; Meloni VA; Bjornsson HT
    Eur J Hum Genet; 2017 Dec; 25(12):1335-1344. PubMed ID: 29255178
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.
    Falk MJ; Shen L; Gonzalez M; Leipzig J; Lott MT; Stassen AP; Diroma MA; Navarro-Gomez D; Yeske P; Bai R; Boles RG; Brilhante V; Ralph D; DaRe JT; Shelton R; Terry SF; Zhang Z; Copeland WC; van Oven M; Prokisch H; Wallace DC; Attimonelli M; Krotoski D; Zuchner S; Gai X; ; ; ; ; ;
    Mol Genet Metab; 2015 Mar; 114(3):388-96. PubMed ID: 25542617
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
    Micale L; Augello B; Fusco C; Selicorni A; Loviglio MN; Silengo MC; Reymond A; Gumiero B; Zucchetti F; D'Addetta EV; Belligni E; Calcagnì A; Digilio MC; Dallapiccola B; Faravelli F; Forzano F; Accadia M; Bonfante A; Clementi M; Daolio C; Douzgou S; Ferrari P; Fischetto R; Garavelli L; Lapi E; Mattina T; Melis D; Patricelli MG; Priolo M; Prontera P; Renieri A; Mencarelli MA; Scarano G; della Monica M; Toschi B; Turolla L; Vancini A; Zatterale A; Gabrielli O; Zelante L; Merla G
    Orphanet J Rare Dis; 2011 Jun; 6():38. PubMed ID: 21658225
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease.
    Moutsianas L; Agarwala V; Fuchsberger C; Flannick J; Rivas MA; Gaulton KJ; Albers PK; ; McVean G; Boehnke M; Altshuler D; McCarthy MI
    PLoS Genet; 2015 Apr; 11(4):e1005165. PubMed ID: 25906071
    [TBL] [Abstract][Full Text] [Related]  

  • 28. What you can learn from one gene: GLI3.
    Biesecker LG
    J Med Genet; 2006 Jun; 43(6):465-9. PubMed ID: 16740916
    [TBL] [Abstract][Full Text] [Related]  

  • 29. MLL2 and KDM6A mutations in patients with Kabuki syndrome.
    Miyake N; Koshimizu E; Okamoto N; Mizuno S; Ogata T; Nagai T; Kosho T; Ohashi H; Kato M; Sasaki G; Mabe H; Watanabe Y; Yoshino M; Matsuishi T; Takanashi J; Shotelersuk V; Tekin M; Ochi N; Kubota M; Ito N; Ihara K; Hara T; Tonoki H; Ohta T; Saito K; Matsuo M; Urano M; Enokizono T; Sato A; Tanaka H; Ogawa A; Fujita T; Hiraki Y; Kitanaka S; Matsubara Y; Makita T; Taguri M; Nakashima M; Tsurusaki Y; Saitsu H; Yoshiura K; Matsumoto N; Niikawa N
    Am J Med Genet A; 2013 Sep; 161A(9):2234-43. PubMed ID: 23913813
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.
    Xiang Y; Wang Z; Bian J; Xu Y; Fu Q
    J Hum Genet; 2016 Oct; 61(10):907-910. PubMed ID: 27305983
    [TBL] [Abstract][Full Text] [Related]  

  • 31. India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin.
    Zhang JF; James F; Shukla A; Girisha KM; Paciorkowski AR
    BMC Res Notes; 2017 Jun; 10(1):233. PubMed ID: 28655339
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.
    Susak H; Serra-Saurina L; Demidov G; Rabionet R; Domènech L; Bosio M; Muyas F; Estivill X; Escaramís G; Ossowski S
    PLoS Comput Biol; 2021 Feb; 17(2):e1007784. PubMed ID: 33606672
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.
    Sethi SK; Goyal D; Khalil S; Yadav DK
    Eur J Pediatr; 2013 Aug; 172(8):1131-5. PubMed ID: 23334564
    [TBL] [Abstract][Full Text] [Related]  

  • 34. The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition.
    Lee IH; Negron JA; Hernandez-Ferrer C; Alvarez WJ; Mandl KD; Kong SW
    Hum Mutat; 2020 Feb; 41(2):387-396. PubMed ID: 31691385
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A novel genome-information content-based statistic for genome-wide association analysis designed for next-generation sequencing data.
    Luo L; Zhu Y; Xiong M
    J Comput Biol; 2012 Jun; 19(6):731-44. PubMed ID: 22651812
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Prot2HG: a database of protein domains mapped to the human genome.
    Stanek D; Bis-Brewer DM; Saghira C; Danzi MC; Seeman P; Lassuthova P; Zuchner S
    Database (Oxford); 2020 Jan; 2020():. PubMed ID: 32293014
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Atlas - a data warehouse for integrative bioinformatics.
    Shah SP; Huang Y; Xu T; Yuen MM; Ling J; Ouellette BF
    BMC Bioinformatics; 2005 Feb; 6():34. PubMed ID: 15723693
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.
    Jamsheer A; Sowińska A; Trzeciak T; Jamsheer-Bratkowska M; Geppert A; Latos-Bieleńska A
    J Appl Genet; 2012 Nov; 53(4):415-22. PubMed ID: 22903559
    [TBL] [Abstract][Full Text] [Related]  

  • 39. GENOME-WIDE ASSOCIATION MAPPING AND RARE ALLELES: FROM POPULATION GENOMICS TO PERSONALIZED MEDICINE - Session Introduction.
    DE LA Vega FM; Bustamante CD; Leal SM
    Pac Symp Biocomput; 2011; ():74-5. PubMed ID: 21121034
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Molecular genetic studies of complex phenotypes.
    Marian AJ
    Transl Res; 2012 Feb; 159(2):64-79. PubMed ID: 22243791
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 24.