Associated Papers
Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.
Rodilla C et al.
International Journal of Molecular Sciences, 2025
40332496 (PubMed )
Supplement: ijms-26-03825-s001.zip › ijms-3500701-supplementary › RodillaC_LR-WGS_reviewed_Supplementary.xlsx › Table_S2
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Perea-Romero I et al.
Human Genetics, 2021
34448047 (PubMed )
Supplement: 439_2021_2343_MOESM2_ESM.xlsx › Suppl_Table_S7
Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants.
Kulkarni S et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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