Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.
Abdrabo LS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.
Pupavac M et al.
Molecular Genetics and Metabolism, 2016
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H et al.
Plos One, 2011
21701589 (PubMed )
Supplement: pone.0021097.s002.xls › mda-mb468_f40r3
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