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 *

159 related articles for article (PubMed ID: 36121795)

  • 1. Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database.
    Rajcsanyi LS; Zheng Y; Fischer-Posovszky P; Wabitsch M; Hebebrand J; Hinney A
    PLoS One; 2022; 17(9):e0266642. PubMed ID: 36121795
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Estimated prevalence of potentially damaging variants in the leptin gene.
    Nunziata A; Borck G; Funcke JB; Kohlsdorf K; Brandt S; Hinney A; Moepps B; Gierschik P; Debatin KM; Fischer-Posovszky P; Wabitsch M
    Mol Cell Pediatr; 2017 Nov; 4(1):10. PubMed ID: 29101506
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.
    Hannah WB; Seifert BA; Truty R; Zariwala MA; Ameel K; Zhao Y; Nykamp K; Gaston B
    Lancet Respir Med; 2022 May; 10(5):459-468. PubMed ID: 35051411
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.
    Borges P; Pasqualim G; Giugliani R; Vairo F; Matte U
    Orphanet J Rare Dis; 2020 Nov; 15(1):324. PubMed ID: 33208168
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Population Prevalence of Deleterious
    LeDoux MS
    Tremor Other Hyperkinet Mov (N Y); 2020 Nov; 10():50. PubMed ID: 33200041
    [TBL] [Abstract][Full Text] [Related]  

  • 6. High prevalence of cancer-associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering.
    Soussi T; Leroy B; Devir M; Rosenberg S
    Hum Mutat; 2019 May; 40(5):516-524. PubMed ID: 30720243
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.
    Song W; Gardner SA; Hovhannisyan H; Natalizio A; Weymouth KS; Chen W; Thibodeau I; Bogdanova E; Letovsky S; Willis A; Nagan N
    Genet Med; 2016 Aug; 18(8):850-4. PubMed ID: 26681313
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).
    Kaler SG; Ferreira CR; Yam LS
    Mol Genet Metab Rep; 2020 Sep; 24():100602. PubMed ID: 32528851
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
    Greer C; Bhakta H; Ghanem L; Refai F; Linn E; Avella M
    Hum Reprod; 2021 Feb; 36(3):734-755. PubMed ID: 33417716
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Global Assessment of Mendelian Stroke Genetic Prevalence in 101 635 Individuals From 7 Ethnic Groups.
    Grami N; Chong M; Lali R; Mohammadi-Shemirani P; Henshall DE; Rannikmäe K; Paré G
    Stroke; 2020 Apr; 51(4):1290-1293. PubMed ID: 32106772
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
    Tarailo-Graovac M; Zhu JYA; Matthews A; van Karnebeek CDM; Wasserman WW
    Genet Med; 2017 Dec; 19(12):1300-1308. PubMed ID: 28471432
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.
    Paludan-Müller C; Ahlberg G; Ghouse J; Herfelt C; Svendsen JH; Haunsø S; Kanters JK; Olesen MS
    Clin Genet; 2017 Jan; 91(1):63-72. PubMed ID: 27538377
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Population Frequency of Undiagnosed Fabry Disease in the General Population.
    Kermond-Marino A; Weng A; Xi Zhang SK; Tran Z; Huang M; Savige J
    Kidney Int Rep; 2023 Jul; 8(7):1373-1379. PubMed ID: 37441486
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Re-evaluating pathogenicity of variants associated with the long QT syndrome.
    Kaltman JR; Evans F; Fu YP
    J Cardiovasc Electrophysiol; 2018 Jan; 29(1):98-104. PubMed ID: 28988457
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity.
    Niazi RK; Gjesing AP; Hollensted M; Have CT; Grarup N; Pedersen O; Ullah A; Shahid G; Ahmad W; Gul A; Hansen T
    BMC Med Genet; 2018 Nov; 19(1):199. PubMed ID: 30442103
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
    de Andrade KC; Frone MN; Wegman-Ostrosky T; Khincha PP; Kim J; Amadou A; Santiago KM; Fortes FP; Lemonnier N; Mirabello L; Stewart DR; Hainaut P; Kowalski LP; Savage SA; Achatz MI
    Hum Mutat; 2019 Jan; 40(1):97-105. PubMed ID: 30352134
    [TBL] [Abstract][Full Text] [Related]  

  • 18. From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB).
    Eichstadt S; Tang JY; Solis DC; Siprashvili Z; Marinkovich MP; Whitehead N; Schu M; Fang F; Erickson SW; Ritchey ME; Colao M; Spratt K; Shaygan A; Ahn MJ; Sarin KY
    Clin Cosmet Investig Dermatol; 2019; 12():933-942. PubMed ID: 31920360
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prevalence estimation of ATTRv in China based on genetic databases.
    Yongsheng Z; Chong S; Bingyou L; Jianian H; Haofeng C; Chongbo Z; Zhang VW; Jie L
    Front Genet; 2023; 14():1126836. PubMed ID: 37124609
    [No Abstract]   [Full Text] [Related]  

  • 20. Utilization of the genome aggregation database, in silico tools, and heterologous expression patch-clamp studies to identify and demote previously published type 2 long QT syndrome: Causative variants from pathogenic to likely benign.
    Mattivi CL; Ye D; Tester DJ; Clemens DJ; Zhou W; Giudicessi JR; Ackerman MJ
    Heart Rhythm; 2020 Feb; 17(2):315-323. PubMed ID: 31493592
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.