Associated Papers
A compound heterozygous ADAMTS13 mutation causes congenital thrombotic thrombocytopenic purpura: a case report.
Huang Y et al.
Frontiers in Medicine, 2024
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.
Young C et al.
Hgg Advances, 2023
36299998 (PubMed )
Supplement: mmc1.pdf
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
Abelson S et al.
Science Advances, 2020
33298453 (PubMed )
Supplement: abe3722_Table_S3.xlsx › tab1
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Lee JW et al.
Plos One, 2019
31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV
Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.
Jiang J et al.
Journal of Personalized Medicine, 2018
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