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 *

199 related articles for article (PubMed ID: 36550190)

  • 1. Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
    Vintschger E; Kraemer D; Joset P; Horn AHC; Rauch A; Sticht H; Bachmann-Gagescu R
    Eur J Hum Genet; 2023 Aug; 31(8):953-961. PubMed ID: 36550190
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
    Cecchi AC; Vengoechea ES; Kaseniit KE; Hardy MW; Kiger LA; Mehta N; Haque IS; Moyer K; Page PZ; Muzzey D; Grinzaid KA
    Mol Genet Genomic Med; 2019 Aug; 7(8):e836. PubMed ID: 31293106
    [TBL] [Abstract][Full Text] [Related]  

  • 3. NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
    Singh K; Bijarnia-Mahay S; Ramprasad VL; Puri RD; Nair S; Sharda S; Saxena R; Kohli S; Kulshreshtha S; Ganguli I; Gujral K; Verma IC
    BMC Med Genet; 2020 Nov; 21(1):216. PubMed ID: 33138774
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
    Skrypnyk C; AlHarmi R; Mathur A; AlHafnawi HH; Chandan Appikonda SH; Matsa LS
    BMC Pregnancy Childbirth; 2024 Oct; 24(1):684. PubMed ID: 39425040
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients.
    Zhang L; Shen M; Shu X; Zhou J; Ding J; Lin H; Pan B; Zhang C; Wang B; Guo W
    J Hum Genet; 2024 Sep; 69(9):425-431. PubMed ID: 38839994
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
    Akler G; Birch AH; Schreiber-Agus N; Cai X; Cai G; Shi L; Yu C; Larmore AM; Mendiratta-Vij G; Elkhoury L; Dillon MW; Zhu J; Mclellan AS; Suer FE; Webb BD; Schadt EE; Kornreich R; Edelmann L
    Mol Genet Genomic Med; 2020 Feb; 8(2):e1053. PubMed ID: 31880409
    [TBL] [Abstract][Full Text] [Related]  

  • 8. NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.
    Abulí A; Boada M; Rodríguez-Santiago B; Coroleu B; Veiga A; Armengol L; Barri PN; Pérez-Jurado LA; Estivill X
    Hum Mutat; 2016 Jun; 37(6):516-23. PubMed ID: 26990548
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
    Huang Q; Wen J; Zhang H; Teng Y; Zhang W; Zhu H; Liang D; Wu L; Li Z
    Hum Genomics; 2024 Oct; 18(1):111. PubMed ID: 39380106
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
    Westemeyer M; Saucier J; Wallace J; Prins SA; Shetty A; Malhotra M; Demko ZP; Eng CM; Weckstein L; Boostanfar R; Rabinowitz M; Benn P; Keen-Kim D; Billings P
    Genet Med; 2020 Aug; 22(8):1320-1328. PubMed ID: 32366966
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.
    Abulí A; Costa-Roger M; Codina-Solà M; Valenzuela I; Leno-Colorado J; Rovira-Moreno E; Cueto-González A; Fernández-Álvarez P; García-Arumí E; Cuscó I; Tizzano EF
    J Med Genet; 2023 Jun; 60(6):540-546. PubMed ID: 36600615
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.
    Komlosi K; Diederich S; Fend-Guella DL; Bartsch O; Winter J; Zechner U; Beck M; Meyer P; Schweiger S
    Orphanet J Rare Dis; 2018 Jan; 13(1):23. PubMed ID: 29373990
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
    Davidov B; Levon A; Volkov H; Orenstein N; Karo R; Fatal Gazit I; Magal N; Basel-Salmon L; Golan Mashiach M
    Clin Genet; 2022 May; 101(5-6):517-529. PubMed ID: 35315053
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants.
    Fridman H; Behar DM; Carmi S; Levy-Lahad E
    Genet Med; 2020 Mar; 22(3):646-653. PubMed ID: 31624327
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.
    Xu X; He S; Li G; Wang Z; Lv L; Zhao Z; Li Q; Shi B; Hao GM
    BMC Med Genomics; 2024 Aug; 17(1):214. PubMed ID: 39160549
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology.
    Martin J; Asan ; Yi Y; Alberola T; Rodríguez-Iglesias B; Jiménez-Almazán J; Li Q; Du H; Alama P; Ruiz A; Bosch E; Garrido N; Simon C
    Fertil Steril; 2015 Nov; 104(5):1286-93. PubMed ID: 26354092
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
    Maxwell KN; Hart SN; Vijai J; Schrader KA; Slavin TP; Thomas T; Wubbenhorst B; Ravichandran V; Moore RM; Hu C; Guidugli L; Wenz B; Domchek SM; Robson ME; Szabo C; Neuhausen SL; Weitzel JN; Offit K; Couch FJ; Nathanson KL
    Am J Hum Genet; 2016 May; 98(5):801-817. PubMed ID: 27153395
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.
    Zhang X; Chen Q; Li J; Luo X; Luo J; Li J; Zeng Z; Wu Y; Zhang H; Dong Y
    Hum Genomics; 2024 Jan; 18(1):9. PubMed ID: 38297315
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population.
    Capalbo A; Fabiani M; Caroselli S; Poli M; Girardi L; Patassini C; Favero F; Cimadomo D; Vaiarelli A; Simon C; Rienzi LF; Ubaldi FM
    Hum Reprod; 2021 Jun; 36(7):2050-2061. PubMed ID: 34021342
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.