@misc{indiciaeebefef14ec74, title = {Targeted long-read genomic and epigenomic profiling enhances timely comprehensive variant discovery in hypotonia and muscle weakness.}, author = {Eman Abuijlan and Shruti Sinha and Sathishkumar Ramaswamy and Ruchi Jain and Ikram Chekroun and Fatma Rabea and Maha El Naofal and Syeda Khadija and Radwa Sharaf and Omer S Alkhnbashi and Fahad Ali and Alawi Alsheikh-Ali and Ahmad Abou Tayoun}, year = {2026}, doi = {10.1186/s12916-026-04850-8}, url = {https://pubmed.ncbi.nlm.nih.gov/41952192/}, note = {Source identifier: 41952192} }