Associated Papers
Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.
Belenska-Todorova L et al.
Cells, 2025
Cryo-EM structure of the AAA+ SPATA5 complex and its role in human cytoplasmic pre-60S maturation.
Dai Y et al.
Nature Communications, 2025
The SPATA5-SPATA5L1 ATPase complex directs replisome proteostasis to ensure genome integrity.
Krishnamoorthy V et al.
Cell, 2024
Genome sequencing in persistently unsolved white matter disorders.
Helman G et al.
Annals of Clinical and Translational Neurology, 2020
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.
Puusepp S et al.
European Journal of Human Genetics : Ejhg, 2018
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
29158550 (PubMed )
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