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 *

128 related articles for article (PubMed ID: 36896423)

  • 21. Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships.
    Olubando D; Hopton C; Eden J; Caswell R; Lowri Thomas N; Roberts SA; Morris-Rosendahl D; Venetucci L; Newman WG
    J Hum Genet; 2020 Jun; 65(6):531-539. PubMed ID: 32152366
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy.
    Richmond CM; James PA; Pantaleo SJ; Chong B; Lunke S; Tan TY; Macciocca I
    Genet Med; 2021 Jun; 23(6):1108-1115. PubMed ID: 33568804
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
    Amendola LM; Jarvik GP; Leo MC; McLaughlin HM; Akkari Y; Amaral MD; Berg JS; Biswas S; Bowling KM; Conlin LK; Cooper GM; Dorschner MO; Dulik MC; Ghazani AA; Ghosh R; Green RC; Hart R; Horton C; Johnston JJ; Lebo MS; Milosavljevic A; Ou J; Pak CM; Patel RY; Punj S; Richards CS; Salama J; Strande NT; Yang Y; Plon SE; Biesecker LG; Rehm HL
    Am J Hum Genet; 2016 Jun; 98(6):1067-1076. PubMed ID: 27181684
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.
    Ghosh R; Oak N; Plon SE
    Genome Biol; 2017 Nov; 18(1):225. PubMed ID: 29179779
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
    Kobayashi Y; Yang S; Nykamp K; Garcia J; Lincoln SE; Topper SE
    Genome Med; 2017 Feb; 9(1):13. PubMed ID: 28166811
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Pathogenic variation types in human genes relate to diseases through Pfam and InterPro mapping.
    Babbi G; Savojardo C; Baldazzi D; Martelli PL; Casadio R
    Front Mol Biosci; 2022; 9():966927. PubMed ID: 36188216
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.
    Crider K; Williams J; Qi YP; Gutman J; Yeung L; Mai C; Finkelstain J; Mehta S; Pons-Duran C; Menéndez C; Moraleda C; Rogers L; Daniels K; Green P
    Cochrane Database Syst Rev; 2022 Feb; 2(2022):. PubMed ID: 36321557
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
    Vargas-Parra G; Del Valle J; Rofes P; Gausachs M; Stradella A; Moreno-Cabrera JM; Velasco A; Tornero E; Menéndez M; Muñoz X; Iglesias S; López-Doriga A; Azuara D; Campos O; Cuesta R; Darder E; de Cid R; González S; Teulé A; Navarro M; Brunet J; Capellá G; Pineda M; Feliubadaló L; Lázaro C
    Hum Mutat; 2020 Dec; 41(12):2128-2142. PubMed ID: 32906215
    [TBL] [Abstract][Full Text] [Related]  

  • 29. ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
    Gelb BD; Cavé H; Dillon MW; Gripp KW; Lee JA; Mason-Suares H; Rauen KA; Williams B; Zenker M; Vincent LM;
    Genet Med; 2018 Nov; 20(11):1334-1345. PubMed ID: 29493581
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database.
    Margraf RL; Alexander RZ; Fulmer ML; Miller CE; Coupal E; Mao R
    Hum Mutat; 2022 Dec; 43(12):1780-1794. PubMed ID: 36251279
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
    Xiang J; Yang J; Chen L; Chen Q; Yang H; Sun C; Zhou Q; Peng Z
    Sci Rep; 2020 Jan; 10(1):331. PubMed ID: 31942019
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Analysis of three families with recurrence of non-immune hydrops fetalis by trio whole exome sequencing].
    Zhang T; Zhu X; Gao Z; Huang W; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):937-941. PubMed ID: 34625927
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants.
    Inoue Y; Machida O; Kita Y; Yamamoto T
    Intractable Rare Dis Res; 2022 Aug; 11(3):120-124. PubMed ID: 36200025
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
    Guelly C; Abilova Z; Nuralinov O; Panzitt K; Akhmetova A; Rakhimova S; Kozhamkulov U; Kairov U; Molkenov A; Seisenova A; Trajanoski S; Abildinova Rashbayeva G; Kaussova G; Windpassinger C; Lee JH; Zhumadilov Z; Bekbossynova M; Akilzhanova A
    PeerJ; 2021; 9():e10711. PubMed ID: 33552729
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.
    Han Y; Zhao X; Wang S; Wang C; Tian D; Lang Y; Bottillo I; Wang X; Shao L
    Endocrine; 2019 Jun; 64(3):708-718. PubMed ID: 30790175
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants.
    Laddach A; Ng JCF; Fraternali F
    PLoS Biol; 2021 Apr; 19(4):e3001207. PubMed ID: 33909605
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Problems in variation interpretation guidelines and in their implementation in computational tools.
    Vihinen M
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1206. PubMed ID: 32160417
    [TBL] [Abstract][Full Text] [Related]  

  • 38.
    Ruffo P; Perrone B; Conforti FL
    Genes (Basel); 2022 Mar; 13(3):. PubMed ID: 35328090
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
    Lopez-Perolio I; Leman R; Behar R; Lattimore V; Pearson JF; Castéra L; Martins A; Vaur D; Goardon N; Davy G; Garre P; García-Barberán V; Llovet P; Pérez-Segura P; Díaz-Rubio E; Caldés T; Hruska KS; Hsuan V; Wu S; Pesaran T; Karam R; Vallon-Christersson J; Borg A; ; Valenzuela-Palomo A; Velasco EA; Southey M; Vreeswijk MPG; Devilee P; Kvist A; Spurdle AB; Walker LC; Krieger S; de la Hoya M
    J Med Genet; 2019 Jul; 56(7):453-460. PubMed ID: 30890586
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.
    Lyra PCM; Nepomuceno TC; de Souza MLM; Machado GF; Veloso MF; Henriques TB; Dos Santos DZ; Ribeiro IG; Ribeiro RS; Rangel LBA; Richardson M; Iversen ES; Goldgar D; Couch FJ; Carvalho MA; Monteiro ANA
    Genet Med; 2021 Feb; 23(2):306-315. PubMed ID: 33087888
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.