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
Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.
Winzig F et al.
The Journal of Infectious Diseases, 2025
40848267 (PubMed )
Supplement: jiaf448_supplementary_data.zip › Supplementary_table_5_gene_hits_in_WES_analysis.xlsx › Sheet2
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
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels.
Cook S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
36556183 (PubMed )
Supplement: jpm-12-01962-s001.zip › jpm-1983119-supplementary.pdf
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
34440436 (PubMed )
Supplement: genes-12-01262-s001.zip › genes-1321555-supplementary.pdf
A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.
Boemer F et al.
Scientific Reports, 2017
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
Fonseca H et al.
Gene, 2016
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert SC et al.
Orphanet Journal of Rare Diseases, 2012
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