Associated Papers
Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.
Que Y et al.
Journal of Translational Medicine, 2024
39633439 (PubMed )
Supplement: 12967_2024_5921_MOESM7_ESM.xlsx › 11newmerge
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.
Meinke P et al.
Ebiomedicine, 2020
31862442 (PubMed )
Supplement: mmc1.xlsx › Family_Sequencing
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.
Casey JP et al.
Scientific Reports, 2015
26522270 (PubMed )
Supplement: srep16022-s1.pdf
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.
Wang J et al.
Genome Medicine, 2015
26338694 (PubMed )
Supplement: 13073_2015_207_MOESM1_ESM.xlsx › S6
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