Associated Papers
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
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-A2-A0ER-01A.domain
Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
Suh BC et al.
Molecular Medicine Reports, 2014
Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene.
Lee SS et al.
Jama Neurology, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
Fine mapping of the 9q31 Hirschsprung's disease locus.
Tang CS et al.
Human Genetics, 2010
Genomic screening and replication using the same data set in family-based association testing.
Van Steen K et al.
Nature Genetics, 2005
Artificial neural network approach for selection of susceptible single nucleotide polymorphisms and construction of prediction model on childhood allergic asthma.
Tomita Y et al.
Bmc Bioinformatics, 2004
The role of the IKAP gene polymorphisms in atopic diseases in the middle European population.
Schüller M et al.
Journal of Human Genetics, 2003
Amino-acid substitutions in the IKAP gene product significantly increase risk for bronchial asthma in children.
Takeoka S et al.
Journal of Human Genetics, 2001
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