Imen Chakchouk

CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

NADf Chip, a Two-Color Microarray for Simultaneous Screening of Multigene Mutations Associated with Hearing Impairment in North African Mediterranean Countries

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53