A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing-Reference-Cited by-同舟云学术

A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing

Published:2021-03-19 Issue:5 Volume:42 Page:626-638
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Nallamilli Babi R. R.¹^ORCID,Chaubey Alka¹,Valencia C. A.¹,Stansberry Leah¹,Behlmann Andrea M.¹,Ma Zeqiang¹,Mathur Abhinav¹,Shenoy Suresh¹,Ganapathy Vidya²,Jagannathan Lakshmanan¹,Ramachander Vinish¹,Ferlini Alessandra³^ORCID,Bean Lora¹,Hegde Madhuri¹^ORCID

Affiliation:

1. PerkinElmer Genomics PerkinElmer Inc Waltham Massachusetts USA

2. Mercer University Atlanta Georgia USA

3. Unit of Medical Genetics, Department of Medical Sciences University of Ferrara Ferrara Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24191

Reference26 articles.

1. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy