Associated Papers
Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning.
Majid I et al.
International Journal of Molecular Sciences, 2024
39519200 (PubMed )
Supplement: ijms-25-11649-s001.zip › ijms-3279427-supplementary.pdf
Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants.
Muffels IJJ et al.
Journal of Inherited Metabolic Disease, 2024
Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.
Shin S et al.
Pediatric Neurology, 2023
Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene.
Lv T et al.
Seizure, 2023
Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus.
Dong Y et al.
Frontiers in Genetics, 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory.
O'Brien TD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
DHDDS related epilepsy--Report of familial cases and review of the literature.
Wood K et al.
Seizure, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Structural basis of heterotetrameric assembly and disease mutations in the human cis-prenyltransferase complex.
Bar-El ML et al.
Nature Communications, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
32853554 (PubMed )
Supplement: mmc2.xlsx › S6
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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