Associated Papers
Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report.
Makhmetov S et al.
Heliyon, 2025
39834405 (PubMed )
Supplement: mmc4.xlsx › Sheet1
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
33196013 (PubMed )
Supplement: hs9-4-e497-s005.xlsx › Sheet1
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.
Feng L et al.
Journal of Oncology, 2019
31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1
Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.
Goetz MP et al.
Journal of the National Cancer Institute, 2017
28376176 (PubMed )
Supplement: djw306_Supp.zip › 16-0785R2_Goetz_Supplementary_Tables_3-6_111716.xlsx › Suppl_Table_5a
Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.
Yu Y et al.
Nature Communications, 2017
28232668 (PubMed )
Supplement: ncomms14364-s4.pdf
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Boissé Lomax L et al.
Brain : a Journal of Neurology, 2013
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