BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

216 related articles for article (PubMed ID: 23685542)

  • 1. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.
    Boone PM; Campbell IM; Baggett BC; Soens ZT; Rao MM; Hixson PM; Patel A; Bi W; Cheung SW; Lalani SR; Beaudet AL; Stankiewicz P; Shaw CA; Lupski JR
    Genome Res; 2013 Sep; 23(9):1383-94. PubMed ID: 23685542
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Copy-number variation: the balance between gene dosage and expression in Drosophila melanogaster.
    Zhou J; Lemos B; Dopman EB; Hartl DL
    Genome Biol Evol; 2011; 3():1014-24. PubMed ID: 21979154
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
    Lindstrand A; Frangakis S; Carvalho CM; Richardson EB; McFadden KA; Willer JR; Pehlivan D; Liu P; Pediaditakis IL; Sabo A; Lewis RA; Banin E; Lupski JR; Davis EE; Katsanis N
    Am J Hum Genet; 2016 Aug; 99(2):318-36. PubMed ID: 27486776
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.
    Knijnenburg J; Oberstein SA; Frei K; Lucas T; Gijsbers AC; Ruivenkamp CA; Tanke HJ; Szuhai K
    J Med Genet; 2009 Jun; 46(6):412-7. PubMed ID: 19246478
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
    Gambin T; Akdemir ZC; Yuan B; Gu S; Chiang T; Carvalho CMB; Shaw C; Jhangiani S; Boone PM; Eldomery MK; Karaca E; Bayram Y; Stray-Pedersen A; Muzny D; Charng WL; Bahrambeigi V; Belmont JW; Boerwinkle E; Beaudet AL; Gibbs RA; Lupski JR
    Nucleic Acids Res; 2017 Feb; 45(4):1633-1648. PubMed ID: 27980096
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene.
    Ghahramani Seno MM; Kwan BY; Lee-Ng KK; Moessner R; Lionel AC; Marshall CR; Scherer SW
    BMC Med Genet; 2011 Mar; 12():45. PubMed ID: 21439084
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
    Truty R; Paul J; Kennemer M; Lincoln SE; Olivares E; Nussbaum RL; Aradhya S
    Genet Med; 2019 Jan; 21(1):114-123. PubMed ID: 29895855
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.
    Poot M; van der Smagt JJ; Brilstra EH; Bourgeron T
    Cytogenet Genome Res; 2011; 135(3-4):228-40. PubMed ID: 22085975
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
    Okamoto Y; Goksungur MT; Pehlivan D; Beck CR; Gonzaga-Jauregui C; Muzny DM; Atik MM; Carvalho CMB; Matur Z; Bayraktar S; Boone PM; Akyuz K; Gibbs RA; Battaloglu E; Parman Y; Lupski JR
    Genet Med; 2014 May; 16(5):386-394. PubMed ID: 24136616
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
    Celestino-Soper PB; Shaw CA; Sanders SJ; Li J; Murtha MT; Ercan-Sencicek AG; Davis L; Thomson S; Gambin T; Chinault AC; Ou Z; German JR; Milosavljevic A; Sutcliffe JS; Cook EH; Stankiewicz P; State MW; Beaudet AL
    Hum Mol Genet; 2011 Nov; 20(22):4360-70. PubMed ID: 21865298
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
    Nava C; Keren B; Mignot C; Rastetter A; Chantot-Bastaraud S; Faudet A; Fonteneau E; Amiet C; Laurent C; Jacquette A; Whalen S; Afenjar A; Périsse D; Doummar D; Dorison N; Leboyer M; Siffroi JP; Cohen D; Brice A; Héron D; Depienne C
    Eur J Hum Genet; 2014 Jan; 22(1):71-8. PubMed ID: 23632794
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic architecture of reciprocal CNVs.
    Golzio C; Katsanis N
    Curr Opin Genet Dev; 2013 Jun; 23(3):240-8. PubMed ID: 23747035
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Analysis of copy number variation in men with non-obstructive azoospermia.
    Wyrwoll MJ; Wabschke R; Röpke A; Wöste M; Ruckert C; Perrey S; Rotte N; Hardy J; Astica L; Lupiáñez DG; Wistuba J; Westernströer B; Schlatt S; Berman AJ; Müller AM; Kliesch S; Yatsenko AN; Tüttelmann F; Friedrich C
    Andrology; 2022 Nov; 10(8):1593-1604. PubMed ID: 36041235
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Diagnostic approaches to apparent homozygosity.
    Landsverk ML; Douglas GV; Tang S; Zhang VW; Wang GL; Wang J; Wong LJ
    Genet Med; 2012 Oct; 14(10):877-82. PubMed ID: 22595940
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Copy number variation in Fayoumi and Leghorn chickens analyzed using array comparative genomic hybridization.
    Abernathy J; Li X; Jia X; Chou W; Lamont SJ; Crooijmans R; Zhou H
    Anim Genet; 2014 Jun; 45(3):400-11. PubMed ID: 24628374
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.
    Saadati HR; Wittig M; Helbig I; Häsler R; Anderson CA; Mathew CG; Kupcinskas L; Parkes M; Karlsen TH; Rosenstiel P; Schreiber S; Franke A
    BMC Med Genet; 2016 Apr; 17():26. PubMed ID: 27037036
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Arabidopsis thaliana population analysis reveals high plasticity of the genomic region spanning MSH2, AT3G18530 and AT3G18535 genes and provides evidence for NAHR-driven recurrent CNV events occurring in this location.
    Zmienko A; Samelak-Czajka A; Kozlowski P; Szymanska M; Figlerowicz M
    BMC Genomics; 2016 Nov; 17(1):893. PubMed ID: 27825302
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.
    Pettersson M; Viljakainen H; Loid P; Mustila T; Pekkinen M; Armenio M; Andersson-Assarsson JC; Mäkitie O; Lindstrand A
    J Clin Endocrinol Metab; 2017 Aug; 102(8):3029-3039. PubMed ID: 28605459
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of novel candidate disease genes from de novo exonic copy number variants.
    Gambin T; Yuan B; Bi W; Liu P; Rosenfeld JA; Coban-Akdemir Z; Pursley AN; Nagamani SCS; Marom R; Golla S; Dengle L; Petrie HG; Matalon R; Emrick L; Proud MB; Treadwell-Deering D; Chao HT; Koillinen H; Brown C; Urraca N; Mostafavi R; Bernes S; Roeder ER; Nugent KM; Bader PI; Bellus G; Cummings M; Northrup H; Ashfaq M; Westman R; Wildin R; Beck AE; Immken L; Elton L; Varghese S; Buchanan E; Faivre L; Lefebvre M; Schaaf CP; Walkiewicz M; Yang Y; Kang SL; Lalani SR; Bacino CA; Beaudet AL; Breman AM; Smith JL; Cheung SW; Lupski JR; Patel A; Shaw CA; Stankiewicz P
    Genome Med; 2017 Sep; 9(1):83. PubMed ID: 28934986
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.
    Huguet G; Schramm C; Douard E; Jiang L; Labbe A; Tihy F; Mathonnet G; Nizard S; Lemyre E; Mathieu A; Poline JB; Loth E; Toro R; Schumann G; Conrod P; Pausova Z; Greenwood C; Paus T; Bourgeron T; Jacquemont S;
    JAMA Psychiatry; 2018 May; 75(5):447-457. PubMed ID: 29562078
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.