Validation of Extensive Next-Generation Sequencing Method for Monogenic Disorder Analysis on Cell-Free Fetal DNA-Reference-Cited by-同舟云学术

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Validation of Extensive Next-Generation Sequencing Method for Monogenic Disorder Analysis on Cell-Free Fetal DNA

Published:2019-07 Issue:4 Volume:21 Page:572-579
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Dello Russo Claudio,Cesta Anthony,Longo Salvatore,Barone Maria A.,Cima Antonella,Mesoraca Alvaro,Sparacino Davide,Viola Antonella,Giorlandino Claudio

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference16 articles.

1. Presence of fetal DNA in maternal plasma and serum;Lo;Lancet,1997

2. Non-invasive prenatal DNA testing for genomic copy number variations;Ke;Int J Clin Exp Med,2017

3. Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation;Guissart;J Cyst Fibros,2017

4. Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography and circulating cell-free fetal DNA analysis;Vivanti;Ultrasound Obstet Gynecol,2019

5. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach;Chitty;Prenat Diagn,2015

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1. Predicting functional riboSNitches in the context of alternative splicing;Gene;2022-08

2. Optimized Droplet Digital PCR Assay on Cell-Free DNA Samples for Non-Invasive Prenatal Diagnosis: Application to Beta-Thalassemia;Clinical Chemistry;2022-06-02

3. Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report;Molecular Cytogenetics;2022-04-02

4. Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia;BMC Medical Genomics;2021-11

5. From late fatherhood to prenatal screening of monogenic disorders: evidence and ethical concerns;Human Reproduction Update;2021-07-30

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