Associated Papers
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.
Chaurasia A et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.
Winzig F et al.
The Journal of Infectious Diseases, 2025
40848267 (PubMed )
Supplement: jiaf448_supplementary_data.zip › Supplementary_table_5_gene_hits_in_WES_analysis.xlsx › Sheet2
FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
Watts LM et al.
Brain Communications, 2024
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