Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients' Brain Lesions.
Garcia CAB et al.
Genes, 2025
Diagnostic findings and yield of investigations for children with developmental regression.
Furley K et al.
American Journal of Medical Genetics. Part A, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature.
Mohammadi MF et al.
Irish Journal of Medical Science, 2024
Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum.
Alessandrì MG et al.
Jimd Reports, 2014
The molecular basis of aminoacylase 1 deficiency.
Sommer A et al.
Biochimica Et Biophysica Acta, 2011
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.
Sass JO et al.
American Journal of Human Genetics, 2006
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