Associated Papers
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Lucca C et al.
Clinical Genetics, 2025
40274276 (PubMed )
Supplement: CGE-108-412-s001.pdf
[Identification of NDST1 variant as a cause of intellectual disability].
Rosales-Castillo A et al.
Medicina Clinica, 2024
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.
Khosrowabadi E et al.
Human Molecular Genetics, 2024
Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.
Rostami MR et al.
Molecular Therapy. Methods & Clinical Development, 2023
38089635 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_II
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ et al.
Orphanet Journal of Rare Diseases, 2023
37480025 (PubMed )
Supplement: 13023_2023_2809_MOESM1_ESM.pdf
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
Levchenko O et al.
International Journal of Molecular Sciences, 2022
Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.
Khan A et al.
Genes, 2020
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Martínez F et al.
Journal of Medical Genetics, 2017
NDST1 missense mutations in autosomal recessive intellectual disability.
Reuter MS et al.
American Journal of Medical Genetics. Part A, 2014
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