BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

189 related articles for article (PubMed ID: 35486341)

  • 1. Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains.
    Wan R; Schieck M; Caballero-Oteyza A; Hofmann W; Cochino AV; Shcherbina A; Sherkat R; Wache-Mainier C; Fernandez A; Sultan M; Illig T; Grimbacher B; Proietti M; Steinemann D
    J Clin Immunol; 2022 Jul; 42(5):1083-1092. PubMed ID: 35486341
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.
    Qi Q; Jiang Y; Zhou X; Meng H; Hao N; Chang J; Bai J; Wang C; Wang M; Guo J; Ouyang Y; Xu Z; Xiao M; Zhang VW; Liu J
    Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33255631
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Increasing the diagnostic yield of exome sequencing by copy number variant analysis.
    Marchuk DS; Crooks K; Strande N; Kaiser-Rogers K; Milko LV; Brandt A; Arreola A; Tilley CR; Bizon C; Vora NL; Wilhelmsen KC; Evans JP; Berg JS
    PLoS One; 2018; 13(12):e0209185. PubMed ID: 30557390
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection.
    Pérez EM; Torbay AG; López MS; de la Cámara RCM; Jiménez CR; Álvarez MÁM; Blanco JN; Gianelli C; Hijón CC; Granados EL; Pena RR; Del Pozo Mate Á; García-Morato MB
    Eur J Clin Invest; 2024 Jun; 54(6):e14191. PubMed ID: 38440843
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
    Zech M; Boesch S; Škorvánek M; Necpál J; Švantnerová J; Wagner M; Dincer Y; Sadr-Nabavi A; Serranová T; Rektorová I; Havránková P; Ganai S; Mosejová A; Příhodová I; Šarláková J; Kulcsarová K; Ulmanová O; Bechyně K; Ostrozovičová M; Haň V; Ventosa JR; Shariati M; Shoeibi A; Weber S; Mollenhauer B; Trenkwalder C; Berutti R; Strom TM; Ceballos-Baumann A; Mall V; Haslinger B; Jech R; Winkelmann J
    Parkinsonism Relat Disord; 2021 Mar; 84():129-134. PubMed ID: 33611074
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
    Dong X; Liu B; Yang L; Wang H; Wu B; Liu R; Chen H; Chen X; Yu S; Chen B; Wang S; Xu X; Zhou W; Lu Y
    J Med Genet; 2020 Aug; 57(8):558-566. PubMed ID: 32005694
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.
    Okano T; Imai K; Naruto T; Okada S; Yamashita M; Yeh TW; Ono S; Tanaka K; Okamoto K; Tanita K; Matsumoto K; Toyofuku E; Kumaki-Matsumoto E; Okamura M; Ueno H; Ogawa S; Ohara O; Takagi M; Kanegane H; Morio T
    J Clin Immunol; 2020 Jul; 40(5):729-740. PubMed ID: 32506361
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
    Engelbrecht C; Urban M; Schoeman M; Paarwater B; van Coller A; Abraham DR; Cornelissen H; Glashoff R; Esser M; Möller M; Kinnear C; Glanzmann B
    Front Immunol; 2021; 12():665621. PubMed ID: 34093558
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing.
    Karimi E; Mahmoudian F; Reyes SOL; Bargir UA; Madkaikar M; Artac H; Sabzevari A; Lu N; Azizi G; Abolhassani H
    Mol Immunol; 2021 Sep; 137():57-66. PubMed ID: 34216999
    [TBL] [Abstract][Full Text] [Related]  

  • 11. CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.
    Royer-Bertrand B; Cisarova K; Niel-Butschi F; Mittaz-Crettol L; Fodstad H; Superti-Furga A
    Genes (Basel); 2021 Sep; 12(9):. PubMed ID: 34573409
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study.
    Zhai Y; Zhang Z; Shi P; Martin DM; Kong X
    Hum Mutat; 2021 Aug; 42(8):990-1004. PubMed ID: 34015165
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
    Overwater E; Marsili L; Baars MJH; Baas AF; van de Beek I; Dulfer E; van Hagen JM; Hilhorst-Hofstee Y; Kempers M; Krapels IP; Menke LA; Verhagen JMA; Yeung KK; Zwijnenburg PJG; Groenink M; van Rijn P; Weiss MM; Voorhoeve E; van Tintelen JP; Houweling AC; Maugeri A
    Hum Mutat; 2018 Sep; 39(9):1173-1192. PubMed ID: 29907982
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Whole exome sequencing in recurrent early pregnancy loss.
    Qiao Y; Wen J; Tang F; Martell S; Shomer N; Leung PC; Stephenson MD; Rajcan-Separovic E
    Mol Hum Reprod; 2016 May; 22(5):364-72. PubMed ID: 26826164
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort.
    Tengsujaritkul M; Suratannon N; Ittiwut C; Ittiwut R; Chatchatee P; Suphapeetiporn K; Shotelersuk V
    Pediatr Allergy Immunol; 2022 Jan; 33(1):e13701. PubMed ID: 34796988
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Detection of copy number variations in epilepsy using exome data.
    Tsuchida N; Nakashima M; Kato M; Heyman E; Inui T; Haginoya K; Watanabe S; Chiyonobu T; Morimoto M; Ohta M; Kumakura A; Kubota M; Kumagai Y; Hamano SI; Lourenco CM; Yahaya NA; Ch'ng GS; Ngu LH; Fattal-Valevski A; Weisz Hubshman M; Orenstein N; Marom D; Cohen L; Goldberg-Stern H; Uchiyama Y; Imagawa E; Mizuguchi T; Takata A; Miyake N; Nakajima H; Saitsu H; Miyatake S; Matsumoto N
    Clin Genet; 2018 Mar; 93(3):577-587. PubMed ID: 28940419
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
    Elsink K; Huibers MMH; Hollink IHIM; Simons A; Zonneveld-Huijssoon E; van der Veken LT; Leavis HL; Henriet SSV; van Deuren M; van de Veerdonk FL; Potjewijd J; Berghuis D; Dalm VASH; Vermont CL; van de Ven AAJM; Lambeck AJA; Abbott KM; van Hagen PM; de Bree GJ; Kuijpers TW; Frederix GWJ; van Gijn ME; van Montfrans JM;
    Front Immunol; 2021; 12():780134. PubMed ID: 34992599
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic diagnosis of inborn errors of immunity using clinical exome sequencing.
    Kwon SS; Cho YK; Hahn S; Oh J; Won D; Shin S; Kang JM; Ahn JG; Lee ST; Choi JR
    Front Immunol; 2023; 14():1178582. PubMed ID: 37325673
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
    Pfundt R; Del Rosario M; Vissers LELM; Kwint MP; Janssen IM; de Leeuw N; Yntema HG; Nelen MR; Lugtenberg D; Kamsteeg EJ; Wieskamp N; Stegmann APA; Stevens SJC; Rodenburg RJT; Simons A; Mensenkamp AR; Rinne T; Gilissen C; Scheffer H; Veltman JA; Hehir-Kwa JY
    Genet Med; 2017 Jun; 19(6):667-675. PubMed ID: 28574513
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
    Lemire G; Sanchis-Juan A; Russell K; Baxter S; Chao KR; Singer-Berk M; Groopman E; Wong I; England E; Goodrich J; Pais L; Austin-Tse C; DiTroia S; O'Heir E; Ganesh VS; Wojcik MH; Evangelista E; Snow H; Osei-Owusu I; Fu J; Singh M; Mostovoy Y; Huang S; Garimella K; Kirkham SL; Neil JE; Shao DD; Walsh CA; Argilli E; Le C; Sherr EH; Gleeson JG; Shril S; Schneider R; Hildebrandt F; Sankaran VG; Madden JA; Genetti CA; Beggs AH; Agrawal PB; Bujakowska KM; Place E; Pierce EA; Donkervoort S; Bönnemann CG; Gallacher L; Stark Z; Tan TY; White SM; Töpf A; Straub V; Fleming MD; Pollak MR; Õunap K; Pajusalu S; Donald KA; Bruwer Z; Ravenscroft G; Laing NG; MacArthur DG; Rehm HL; Talkowski ME; Brand H; O'Donnell-Luria A
    Am J Hum Genet; 2024 May; 111(5):863-876. PubMed ID: 38565148
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.