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 *

191 related articles for article (PubMed ID: 34655171)

  • 21. Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
    Shickh S; Gutierrez Salazar M; Zakoor KR; Lázaro C; Gu J; Goltz J; Kleinman D; Noor A; Khalouei S; Mighton C; Reble E; Kodida R; Bombard Y; DiTroia S; Baxter S; Watkins N; Care M; Adler A; Horsburgh S; Morar O; Murphy J; Nevay DL; Szybowska M; Aronson M; Panchal S; Godoy R; Holter S; Randall Armel S; Semotiuk K; Elser C; Kim RH; Chitayat D; So J; Faghfoury H; Silver J; Morel CF; Lerner-Ellis J
    J Med Genet; 2021 Apr; 58(4):275-283. PubMed ID: 32581083
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
    Lionel AC; Costain G; Monfared N; Walker S; Reuter MS; Hosseini SM; Thiruvahindrapuram B; Merico D; Jobling R; Nalpathamkalam T; Pellecchia G; Sung WWL; Wang Z; Bikangaga P; Boelman C; Carter MT; Cordeiro D; Cytrynbaum C; Dell SD; Dhir P; Dowling JJ; Heon E; Hewson S; Hiraki L; Inbar-Feigenberg M; Klatt R; Kronick J; Laxer RM; Licht C; MacDonald H; Mercimek-Andrews S; Mendoza-Londono R; Piscione T; Schneider R; Schulze A; Silverman E; Siriwardena K; Snead OC; Sondheimer N; Sutherland J; Vincent A; Wasserman JD; Weksberg R; Shuman C; Carew C; Szego MJ; Hayeems RZ; Basran R; Stavropoulos DJ; Ray PN; Bowdin S; Meyn MS; Cohn RD; Scherer SW; Marshall CR
    Genet Med; 2018 Apr; 20(4):435-443. PubMed ID: 28771251
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.
    Palomares-Bralo M; Vallespín E; Del Pozo Á; Ibañez K; Silla JC; Galán E; Gordo G; Martínez-Glez V; Alba-Valdivia LI; Heath KE; García-Miñaúr S; Lapunzina P; Santos-Simarro F
    Genet Med; 2017 Nov; 19(11):1285-1286. PubMed ID: 28640240
    [No Abstract]   [Full Text] [Related]  

  • 24. Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
    Kernohan KD; Hartley T; Naumenko S; Armour CM; Graham GE; Nikkel SM; Lines M; Geraghty MT; Richer J; Mears W; Boycott KM; Dyment DA
    Am J Med Genet A; 2018 Jul; 176(7):1688-1691. PubMed ID: 30160830
    [No Abstract]   [Full Text] [Related]  

  • 25. Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.
    Nurchis MC; Radio FC; Salmasi L; Heidar Alizadeh A; Raspolini GM; Altamura G; Tartaglia M; Dallapiccola B; Damiani G
    Eur J Health Econ; 2024 Aug; 25(6):999-1011. PubMed ID: 37975990
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.
    Eno C; Bayrak-Toydemir P; Bean L; Braxton A; Chao EC; El-Khechen D; Esplin ED; Friedman B; Hagman KDF; Hambuch T; Hernandez A; Juusola J; Londre G; Machado J; Mao R; Mighion L; Rehm HL; Ward P; Deignan JL
    Genet Med; 2019 Apr; 21(4):861-866. PubMed ID: 30214068
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The burden of pathogenic variants in clinically actionable genes in a founder population.
    Lynch MT; Maloney KA; Pollin TI; Streeten EA; Xu H; ; Shuldiner AR; Van Hout CV; Gonzaga-Jauregui C; Mitchell BD
    Am J Med Genet A; 2021 Nov; 185(11):3476-3484. PubMed ID: 34467620
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Fast genetic sequencing saves newborn lives.
    Reardon S
    Nature; 2014 Oct; 514(7520):13-4. PubMed ID: 25279893
    [No Abstract]   [Full Text] [Related]  

  • 29. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
    ; Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; de Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z
    JAMA; 2020 Jun; 323(24):2503-2511. PubMed ID: 32573669
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
    Miller DT; Lee K; Gordon AS; Amendola LM; Adelman K; Bale SJ; Chung WK; Gollob MH; Harrison SM; Herman GE; Hershberger RE; Klein TE; McKelvey K; Richards CS; Vlangos CN; Stewart DR; Watson MS; Martin CL;
    Genet Med; 2021 Aug; 23(8):1391-1398. PubMed ID: 34012069
    [No Abstract]   [Full Text] [Related]  

  • 31. Secondary findings in 421 whole exome-sequenced Chinese children.
    Chen W; Li W; Ma Y; Zhang Y; Han B; Liu X; Zhao K; Zhang M; Mi J; Fu Y; Zhou Z
    Hum Genomics; 2018 Sep; 12(1):42. PubMed ID: 30217213
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The exome factor.
    Stower H
    Genome Biol; 2011 Sep; 12(9):407. PubMed ID: 21920053
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Whole genome sequencing helps pinpoint a genetic diagnosis for patients.
    Schon K
    BMJ; 2021 Nov; 375():n2680. PubMed ID: 34732386
    [No Abstract]   [Full Text] [Related]  

  • 34. Unlocking Mendelian disease using exome sequencing.
    Gilissen C; Hoischen A; Brunner HG; Veltman JA
    Genome Biol; 2011 Sep; 12(9):228. PubMed ID: 21920049
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing.
    Hayward J; Chitty LS
    Semin Fetal Neonatal Med; 2018 Apr; 23(2):94-101. PubMed ID: 29305293
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.
    Adams DR; Eng CM
    N Engl J Med; 2018 Oct; 379(14):1353-1362. PubMed ID: 30281996
    [No Abstract]   [Full Text] [Related]  

  • 37. Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system.
    Forrest IS; Duffy Á; Park JK; Vy HMT; Pasquale LR; Nadkarni GN; Cho JH; Do R
    Cell Rep Med; 2024 May; 5(5):101518. PubMed ID: 38642551
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Genetic Counseling and Genome Sequencing in Pediatric Rare Disease.
    Elliott AM
    Cold Spring Harb Perspect Med; 2020 Mar; 10(3):. PubMed ID: 31501267
    [TBL] [Abstract][Full Text] [Related]  

  • 39. High-Resolution and Noninvasive Fetal Exome Screening.
    Brand H; Whelan CW; Duyzend M; Lemanski J; Salani M; Hao SP; Wong I; Valkanas E; Cusick C; Genetti C; Dobson L; Studwell C; Gianforcaro K; Wilkins-Haug L; Guseh S; Currall B; Gray K; Talkowski ME
    N Engl J Med; 2023 Nov; 389(21):2014-2016. PubMed ID: 37991862
    [No Abstract]   [Full Text] [Related]  

  • 40. A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.
    Cakici JA; Dimmock DP; Caylor SA; Gaughran M; Clarke C; Triplett C; Clark MM; Kingsmore SF; Bloss CS
    Am J Hum Genet; 2020 Nov; 107(5):953-962. PubMed ID: 33157008
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.