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
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Genetic defects are common in myopathies with tubular aggregates.
Gang Q et al.
Annals of Clinical and Translational Neurology, 2022
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.
Spedicati B et al.
European Journal of Human Genetics : Ejhg, 2021
Novel heterozygous mutations in the PGAM2 gene with negative exercise testing.
Sidhu M et al.
Molecular Genetics and Metabolism Reports, 2018
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