Literature DB >> 32341574

High-frequency low-penetrance copy-number variant classification: should we revise the existing guidelines?

Idit Maya1, Lina Basel-Salmon1,2,3, Ami Singer4, Lena Sagi-Dain5,6.   

Abstract

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Year:  2020        PMID： 32341574     DOI： 10.1038/s41436-020-0795-4

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  3 in total

1.  Array study in fetuses with nuchal translucency above the 95th percentile: a 4-year observational single-centre study.

Authors:  Edgar Coello-Cahuao; María Ángeles Sánchez-Durán; Inés Calero; María Teresa Higueras; Mayte Avilés García; Carlota Rodó; Nerea Maiz; Alberto Plaja Rustein; Neus Castells-Sarret; Carmen Mediano-Vizuete; Elena Carreras
Journal:  Arch Gynecol Obstet       Date:  2022-04-29       Impact factor: 2.344

2.  Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance.

Authors:  Kuo Zhang; Guigao Lin; Dongsheng Han; Yanxi Han; Rongxue Peng; Jinming Li
Journal:  Front Genet       Date:  2022-03-10       Impact factor: 4.599

3.  Cuproptosis-Related Gene - SLC31A1, FDX1 and ATP7B - Polymorphisms are Associated with Risk of Lung Cancer.

Authors:  Yuhui Yun; Yun Wang; Ende Yang; Xin Jing
Journal:  Pharmgenomics Pers Med       Date:  2022-07-26
  3 in total

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