Associated Papers
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
Viggiano M et al.
Npj Genomic Medicine, 2024
38519481 (PubMed )
Supplement: 41525_2024_411_MOESM1_ESM.pdf
Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.
Ługowska A et al.
Life (basel, Switzerland), 2021
Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era.
Wanders RJA et al.
Journal of Inherited Metabolic Disease, 2019
Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
Schackmann MJ et al.
Molecular Genetics and Metabolism, 2016
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