Associated Papers
Novel bi-allelic variants of CHMP1A contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence.
He T et al.
Frontiers in Neurology, 2023
37789895 (PubMed )
Supplement: Table_1.xlsx › Variants_and_phenotype
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_
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.
Rashid M et al.
Nature Communications, 2019
31101826 (PubMed )
Supplement: 41467_2019_9979_MOESM5_ESM.xlsx › Supp_table_2a
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