Associated Papers
A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease.
Ferreira EN et al.
Human Genomics, 2016
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ et al.
Plos Genetics, 2015
25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0A6-01A.domain
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
Al-Hamed MH et al.
Journal of Human Genetics, 2013
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Matejas V et al.
Human Mutation, 2010
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