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 *

127 related articles for article (PubMed ID: 35532184)

  • 1. Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database.
    Schmitz MJ; Aarabi M; Bashar A; Rajkovic A; Gregg AR; Yatsenko SA
    Clin Genet; 2022 Aug; 102(2):87-97. PubMed ID: 35532184
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non-Finnish European, Finnish, and Ashkenazi Jewish populations.
    Kandolin M; Pöyhönen M; Jakkula E
    Am J Med Genet A; 2024 Jul; 194(7):e63588. PubMed ID: 38459613
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
    Chetruengchai W; Phowthongkum P; Shotelersuk V
    BMC Med Genomics; 2024 Jan; 17(1):9. PubMed ID: 38167091
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.
    Chetruengchai W; Shotelersuk V
    J Hum Genet; 2022 Mar; 67(3):137-142. PubMed ID: 34621001
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
    Capalbo A; Valero RA; Jimenez-Almazan J; Pardo PM; Fabiani M; Jiménez D; Simon C; Rodriguez JM
    PLoS Genet; 2019 Oct; 15(10):e1008409. PubMed ID: 31589614
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study.
    Park JE; Lee T; Ha K; Cho EH; Ki CS
    Pediatr Res; 2023 Nov; 94(5):1764-1770. PubMed ID: 37286773
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.
    Jang MA; Lee SH; Kim N; Ki CS
    Genet Med; 2015 Dec; 17(12):1007-11. PubMed ID: 25856671
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis.
    Park JE; Lee T; Ha K; Cho EH; Ki CS
    Front Pediatr; 2022; 10():975665. PubMed ID: 36440336
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Secondary findings and carrier test frequencies in a large multiethnic sample.
    Gambin T; Jhangiani SN; Below JE; Campbell IM; Wiszniewski W; Muzny DM; Staples J; Morrison AC; Bainbridge MN; Penney S; McGuire AL; Gibbs RA; Lupski JR; Boerwinkle E
    Genome Med; 2015; 7(1):54. PubMed ID: 26195989
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
    Gunsel AS; Ergoren MC; Kemal H; Kafshboran HR; Cerit L; Turgay A; Duygu H
    Genes (Basel); 2023 Oct; 14(10):. PubMed ID: 37895316
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child.
    Mor-Shaked H; Rips J; Gershon Naamat S; Reich A; Elpeleg O; Meiner V; Harel T
    Eur J Hum Genet; 2021 Mar; 29(3):455-462. PubMed ID: 33223529
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.
    Einhorn Y; Einhorn M; Kurolap A; Steinberg D; Mory A; Bazak L; Paperna T; Grinshpun-Cohen J; Basel-Salmon L; Weiss K; Singer A; Yaron Y; Baris Feldman H
    Hum Genomics; 2023 Mar; 17(1):30. PubMed ID: 36978159
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Functional and clinical implications of genetic structure in 1686 Italian exomes.
    Birolo G; Aneli S; Di Gaetano C; Cugliari G; Russo A; Allione A; Casalone E; Giorgio E; Paraboschi EM; Ardissino D; Duga S; Asselta R; Matullo G
    Hum Mutat; 2021 Mar; 42(3):272-289. PubMed ID: 33326653
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis.
    Cho EH; Park JE; Lee T; Ha K; Ki CS
    Orphanet J Rare Dis; 2022 Nov; 17(1):409. PubMed ID: 36352427
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
    Yuan B; Schulze KV; Assia Batzir N; Sinson J; Dai H; Zhu W; Bocanegra F; Fong CT; Holder J; Nguyen J; Schaaf CP; Yang Y; Bi W; Eng C; Shaw C; Lupski JR; Liu P
    Genome Med; 2022 Sep; 14(1):113. PubMed ID: 36180924
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.
    Zhao T; Fan S; Sun L
    BMC Genom Data; 2021 Nov; 22(1):50. PubMed ID: 34789164
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
    Johnston JJ; Brennan ML; Radenbaugh B; Yoo SJ; Hernandez SM; ; Lewis KL; Katz AE; Manolio TA; Biesecker LG
    Genet Med; 2022 Mar; 24(3):736-743. PubMed ID: 34906458
    [TBL] [Abstract][Full Text] [Related]  

  • 18. PATH-SCAN: a reporting tool for identifying clinically actionable variants.
    Daneshjou R; Zappala Z; Kukurba K; Boyle SM; Ormond KE; Klein TE; Snyder M; Bustamante CD; Altman RB; Montgomery SB
    Pac Symp Biocomput; 2014; ():229-40. PubMed ID: 24297550
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing.
    Rančelis T; Arasimavičius J; Ambrozaitytė L; Kavaliauskienė I; Domarkienė I; Karčiauskaitė D; Kučinskienė ZA; Kučinskas V
    Genet Res (Camb); 2017 Aug; 99():e6. PubMed ID: 28851476
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Carrier detection probabilities for autosomal recessive variants in unrelated and consanguineous couples - an evaluation of the 86 genes of the ACMG 'Tier 3' panel.
    Schmidtke J; Krawczak M
    J Community Genet; 2022 Aug; 13(4):399-401. PubMed ID: 35661981
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.