Associated Papers
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
40780579 (PubMed )
Supplement: NIHMS2116078-supplement-Supplementary_Material.pdf
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.
Nyaga DM et al.
Npj Genomic Medicine, 2024
39516456 (PubMed )
Supplement: 41525_2024_445_MOESM1_ESM.pdf
Normal transferrin glycosylation does not rule out severe ALG1 deficiency.
Bosnyak I et al.
Jimd Reports, 2024
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
37291213 (PubMed )
Supplement: 41591_2023_2401_MOESM1_ESM.pdf
ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.
Öncül Ü et al.
Molecular Syndromology, 2022
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Palmer EE et al.
Neurology, 2021
ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
González-Domínguez CA et al.
Frontiers in Genetics, 2021
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
28554332 (PubMed )
Supplement: 13073_2017_433_MOESM2_ESM.xlsx › Sheet1
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG et al.
Human Mutation, 2016
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