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 *

214 related articles for article (PubMed ID: 36811936)

  • 1. Systematic assessment of the contribution of structural variants to inherited retinal diseases.
    Wen S; Wang M; Qian X; Li Y; Wang K; Choi J; Pennesi ME; Yang P; Marra M; Koenekoop RK; Lopez I; Matynia A; Gorin M; Sui R; Yao F; Goetz K; Porto FBO; Chen R
    Hum Mol Genet; 2023 Jun; 32(12):2005-2015. PubMed ID: 36811936
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Systematic assessment of the contribution of structural variants to inherited retinal diseases.
    Wen S; Wang M; Qian X; Li Y; Wang K; Choi J; Pennesi ME; Yang P; Marra M; Koenekoop RK; Lopez I; Matynia A; Gorin M; Sui R; Yao F; Goetz K; Porto FBO; Chen R
    bioRxiv; 2023 Jan; ():. PubMed ID: 36789417
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.
    Zeuli R; Karali M; de Bruijn SE; Rodenburg K; Scarpato M; Capasso D; Astuti GDN; Gilissen C; Rodríguez-Hidalgo M; Ruiz-Ederra J; Testa F; Simonelli F; Cremers FPM; Banfi S; Roosing S
    HGG Adv; 2024 Jul; 5(3):100314. PubMed ID: 38816995
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants.
    Liu X; Hu F; Zhang D; Li Z; He J; Zhang S; Wang Z; Zhao Y; Wu J; Liu C; Li C; Li X; Wu J
    NPJ Genom Med; 2024 Jan; 9(1):6. PubMed ID: 38245557
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
    Biswas P; Villanueva AL; Soto-Hermida A; Duncan JL; Matsui H; Borooah S; Kurmanov B; Richard G; Khan SY; Branham K; Huang B; Suk J; Bakall B; Goldberg JL; Gabriel L; Khan NW; Raghavendra PB; Zhou J; Devalaraja S; Huynh A; Alapati A; Zawaydeh Q; Weleber RG; Heckenlively JR; Hejtmancik JF; Riazuddin S; Sieving PA; Riazuddin SA; Frazer KA; Ayyagari R
    PLoS Genet; 2021 Oct; 17(10):e1009848. PubMed ID: 34662339
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
    de Bruijn SE; Rodenburg K; Corominas J; Ben-Yosef T; Reurink J; Kremer H; Whelan L; Plomp AS; Berger W; Farrar GJ; Ferenc Kovács Á; Fajardy I; Hitti-Malin RJ; Weisschuh N; Weener ME; Sharon D; Pennings RJE; Haer-Wigman L; Hoyng CB; Nelen MR; Vissers LELM; van den Born LI; Gilissen C; Cremers FPM; Hoischen A; Neveling K; Roosing S
    Genet Med; 2023 Mar; 25(3):100345. PubMed ID: 36524988
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
    Abu Elasal M; Mousa S; Salameh M; Blumenfeld A; Khateb S; Banin E; Sharon D
    Genes (Basel); 2024 Jul; 15(7):. PubMed ID: 39062705
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Screening copy number variations in 35 unsolved inherited retinal disease families.
    Liu X; Dai H; Li G; Jia R; Meng X; Yu S; Yang L; Hong J
    Hum Genet; 2024 Feb; 143(2):197-210. PubMed ID: 38282009
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.
    Hussain HMJ; Wang M; Huang A; Schmidt R; Qian X; Yang P; Marra M; Li Y; Pennesi ME; Chen R
    Genes (Basel); 2023 Feb; 14(2):. PubMed ID: 36833373
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
    Smirnov VM; Nassisi M; Solis Hernandez C; Méjécase C; El Shamieh S; Condroyer C; Antonio A; Meunier I; Andrieu C; Defoort-Dhellemmes S; Mohand-Said S; Sahel JA; Audo I; Zeitz C
    JAMA Ophthalmol; 2021 Mar; 139(3):278-291. PubMed ID: 33507216
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
    Roberts L; Ratnapriya R; du Plessis M; Chaitankar V; Ramesar RS; Swaroop A
    Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6374-6381. PubMed ID: 27898983
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
    Lin S; Vermeirsch S; Pontikos N; Martin-Gutierrez MP; Daich Varela M; Malka S; Schiff E; Knight H; Wright G; Jurkute N; Simcoe MJ; Yu-Wai-Man P; Moosajee M; Michaelides M; Mahroo OA; Webster AR; Arno G
    Ophthalmol Retina; 2024 Jul; 8(7):699-709. PubMed ID: 38219857
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
    Maggi J; Koller S; Feil S; Bachmann-Gagescu R; Gerth-Kahlert C; Berger W
    Int J Mol Sci; 2024 Jun; 25(12):. PubMed ID: 38928247
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
    Mørup SB; Nazaryan-Petersen L; Gabrielaite M; Reekie J; Marquart HV; Hartling HJ; Marvig RL; Katzenstein TL; Masmas TN; Lundgren J; Murray DD; Helleberg M; Borgwardt L
    Front Immunol; 2022; 13():906328. PubMed ID: 35874679
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.
    Nash BM; Ma A; Ho G; Farnsworth E; Minoche AE; Cowley MJ; Barnett C; Smith JM; Loi TH; Wong K; St Heaps L; Wright D; Dinger ME; Bennetts B; Grigg JR; Jamieson RV
    Int J Mol Sci; 2022 Mar; 23(7):. PubMed ID: 35409265
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.
    Liu X; Xiao J; Huang H; Guan L; Zhao K; Xu Q; Zhang X; Pan X; Gu S; Chen Y; Zhang J; Shen Y; Jiang H; Gao X; Kang X; Sheng X; Chen X; Zhao C
    JAMA Ophthalmol; 2015 Apr; 133(4):427-36. PubMed ID: 25611614
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
    Pontikos N; Arno G; Jurkute N; Schiff E; Ba-Abbad R; Malka S; Gimenez A; Georgiou M; Wright G; Armengol M; Knight H; Katz M; Moosajee M; Yu-Wai-Man P; Moore AT; Michaelides M; Webster AR; Mahroo OA
    Ophthalmology; 2020 Oct; 127(10):1384-1394. PubMed ID: 32423767
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.
    Astuti GDN; van den Born LI; Khan MI; Hamel CP; Bocquet B; Manes G; Quinodoz M; Ali M; Toomes C; McKibbin M; El-Asrag ME; Haer-Wigman L; Inglehearn CF; Black GCM; Hoyng CB; Cremers FPM; Roosing S
    Genes (Basel); 2018 Jan; 9(1):. PubMed ID: 29320387
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
    Yang L; Fujinami K; Ueno S; Kuniyoshi K; Hayashi T; Kondo M; Mizota A; Naoi N; Shinoda K; Kameya S; Fujinami-Yokokawa Y; Liu X; Arno G; Pontikos N; Kominami T; Terasaki H; Sakuramoto H; Katagiri S; Mizobuchi K; Nakamura N; Mawatari G; Kurihara T; Tsubota K; Miyake Y; Yoshitake K; Iwata T; Tsunoda K;
    Sci Rep; 2020 Mar; 10(1):5497. PubMed ID: 32218477
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.
    Jamshidi F; Place EM; Mehrotra S; Navarro-Gomez D; Maher M; Branham KE; Valkanas E; Cherry TJ; Lek M; MacArthur D; Pierce EA; Bujakowska KM
    Genet Med; 2019 Mar; 21(3):694-704. PubMed ID: 30072743
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.