Work

Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis

Year: 2024

Type: article

Study design: Observational Study

Source: Journal of Medical Genetics

DOI: 10.1136/jmg-2024-110152

Authors: Yinghong Pan, Babi Ramesh Reddy Nallamilli, Ruby Liu, Naga Guruju, Daniel Lesperance, Zeqiang Ma, Abhinav Mathur, Kayla Banks, Ann S Martin, Rolando García, Fen Guo, Madhuri Hegde

Institutions: Magee-Womens Hospital, Revvity (United States), Parent Project Muscular Dystrophy, The University of Texas Southwestern Medical Center, University of Pittsburgh

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4405349355

FWCI: 0.347

Cites: 43

Cited by: 3

Related to: 10