Associated Papers
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S7
The transcriptional landscape of Shh medulloblastoma.
Skowron P et al.
Nature Communications, 2021
33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations
Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.
Onodera S et al.
International Journal of Molecular Sciences, 2020
33066274 (PubMed )
Supplement: ijms-21-07559-s001.pdf
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Dharmadhikari AV et al.
Genome Medicine, 2019
PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
Guo YY et al.
Plos One, 2013
24204797 (PubMed )
Supplement: pone.0077305.s001.docx
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.
Savino M et al.
Human Mutation, 2004
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