Associated Papers
Next-Generation Sequencing Technologies and Neurogenetic Diseases.
Sun H et al.
Life (basel, Switzerland), 2021
A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L.
Stone EJ et al.
Cytoskeleton (hoboken, N.j.), 2021
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Lerat J et al.
Molecular Genetics & Genomic Medicine, 2019
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.
Lerat J et al.
Journal of the Peripheral Nervous System : Jpns, 2019
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.
Wong K et al.
Nature Communications, 2019
30664638 (PubMed )
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