The Evolution of PGT-M in Diagnostics and Therapeutics

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ORIGINAL RESEARCH

Published on 08 Mar 2024

Appropriate whole genome amplification and pathogenic loci detection can improve the accuracy of preimplantation genetic diagnosis for deletional α-thalassemia

Yueyun Lan
Hong Zhou
Sheng He
Jinhui Shu
Lifang Liang
Hongwei Wei
Jingsi Luo
Caizhu Wang
Xin Zhao
1 more
Peng Huang

Appropriate whole genome amplification and pathogenic loci detection can improve the accuracy of preimplantation genetic diagnosis for deletional α-thalassemia

doi 10.3389/fendo.2023.1176063

1,054 views
1 citation

REVIEW

Published on 15 Dec 2023

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)

Firuza Parikh
Arundhati Athalye
Prochi Madon
Meenal Khandeparkar
Dattatray Naik
Rupesh Sanap
Anuradha Udumudi

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)

doi 10.3389/frph.2023.1213546

4,446 views
2 citations

ORIGINAL RESEARCH

Published on 14 Sep 2023

Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with a de novo RPS6KA3 mutation

Xiaojun Wen
Jing Du
Zhiming Li
Nengqing Liu
Junye Huo
Jieliang Li
Wanna Ke
Jiaqi Wu
Xiaowu Fang
Xiufeng Lin

Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with a de novo RPS6KA3 mutation

doi 10.3389/fgene.2023.1169868

1,214 views
1 citation

ORIGINAL RESEARCH

Published on 13 Mar 2023

Effectiveness of non-invasive chromosomal screening for normal karyotype and chromosomal rearrangements

Bo-lan Sun
Yong Wang
Sixi-Wen
Liang Zhou
Chun-hui Zhang
Ze-Xuan Wu
Jie Qiao
Qing-yuan Sun
Ya-xin Yao
2 more
Wei-Ping Qian

Effectiveness of non-invasive chromosomal screening for normal karyotype and chromosomal rearrangements

doi 10.3389/fgene.2023.1036467

3,001 views
3 citations

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