Literature DB >> 32558475

Detection of Structural Rearrangements in Embryos.

Svetlana Madjunkova1, Yogi Sundaravadanam2, Ran Antes3, Rina Abramov3, Siwei Chen3, Yin Yin3, Philip C Zuzarte2, Sergey I Moskovtsev3, Lars G T Jorgensen2, Ari Baratz4, Jared T Simpson2, Clifford Librach4.   

Abstract

Year:  2020        PMID： 32558475     DOI： 10.1056/NEJMc1913370

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  4 in total

1.  Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing.

Authors:  Ya Wang; Jianxin Tan; Yan Wang; An Liu; Fengchang Qiao; Mingtao Huang; Cuiping Zhang; Jing Zhou; Ping Hu; Zhengfeng Xu
Journal:  Neurol Genet       Date:  2021-11-23

2.  Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis.

Authors:  Christopher M Watson; Deborah L Holliday; Laura A Crinnion; David T Bonthron
Journal:  Prenat Diagn       Date:  2022-01-18       Impact factor: 3.242

Review 3.  Current trends in COVID-19 diagnosis and its new variants in physiological fluids: Surface antigens, antibodies, nucleic acids, and RNA sequencing.

Authors:  Menna Mostafa; Ahmed Barhoum; Ekin Sehit; Hossam Gewaid; Eslam Mostafa; Mohamed M Omran; Mohga S Abdalla; Fatehy M Abdel-Haleem; Zeynep Altintas; Robert J Forster
Journal:  Trends Analyt Chem       Date:  2022-08-30       Impact factor: 14.908

4.  Detection of a Cryptic 25 bp Deletion and a 269 Kb Microduplication by Nanopore Sequencing in a Seemingly Balanced Translocation Involving the LMLN and LOC105378102 Genes.

Authors:  Yanan Wang; Zhenhua Zhao; Xinyu Fu; Shufang Li; Qiuyan Zhang; Xiangdong Kong
Journal:  Front Genet       Date:  2022-08-26       Impact factor: 4.772
  4 in total

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