TY  - RPRT
TI  - Targeted long-read genomic and epigenomic profiling enhances timely comprehensive variant discovery in hypotonia and muscle weakness.
AU  - Eman Abuijlan
AU  - Shruti Sinha
AU  - Sathishkumar Ramaswamy
AU  - Ruchi Jain
AU  - Ikram Chekroun
AU  - Fatma Rabea
AU  - Maha El Naofal
AU  - Syeda Khadija
AU  - Radwa Sharaf
AU  - Omer S Alkhnbashi
AU  - Fahad Ali
AU  - Alawi Alsheikh-Ali
AU  - Ahmad Abou Tayoun
PY  - 2026
DO  - 10.1186/s12916-026-04850-8
UR  - https://pubmed.ncbi.nlm.nih.gov/41952192/
ID  - 41952192
ER  -