Associated Papers
AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.
Sabbagh Q et al.
Journal of Neurology, 2025
39821477 (PubMed )
Supplement: 415_2025_12889_MOESM1_ESM.xlsx › Supp_Table_2
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
37679823 (PubMed )
Supplement: 13073_2023_1214_MOESM1_ESM.pdf
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D et al.
Brain Communications, 2021
Integrating structural and evolutionary data to interpret variation and pathogenicity in adapter protein complex 4.
Gadbery JE et al.
Protein Science : a Publication of the Protein Society, 2020
Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.
Ruan WC et al.
Bmc Medical Genetics, 2020
32171285 (PubMed )
Supplement: 12881_2020_988_MOESM1_ESM.xlsx › Sheet1
A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing.
Petti AA et al.
Nature Communications, 2019
31413257 (PubMed )
Supplement: 41467_2019_11591_MOESM3_ESM.xlsx › CompiledVariantData
Clinical and genetic characterization of AP4B1-associated SPG47.
Ebrahimi-Fakhari D et al.
American Journal of Medical Genetics. Part A, 2018
Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.
Tan CA et al.
Clinical Genetics, 2016
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