Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
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
Combination of 15q24 Microdeletion Syndrome and Metabolic Imbalance in a Patient with Atypical Autism.
Stefanyshyn V et al.
Journal of Molecular Neuroscience : Mn, 2024
Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.
Kas SM et al.
Scientific Reports, 2023
37848450 (PubMed )
Supplement: 41598_2023_42178_MOESM5_ESM.xlsx › OST_complex_clinvar_result
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
Sabo A et al.
Molecular Genetics & Genomic Medicine, 2020
Telomere alterations in neurofibromatosis type 1-associated solid tumors.
Rodriguez FJ et al.
Acta Neuropathologica Communications, 2019
31462295 (PubMed )
Supplement: 40478_2019_792_MOESM1_ESM.pdf
Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.
Palsgrove DN et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018
29973652 (PubMed )
Supplement: NIHMS972465-supplement-1.xlsx › CASE_7
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
Jones MA et al.
Molecular Genetics and Metabolism, 0
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