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
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › d__Freq_TP093
Structural asymmetry in the eukaryotic Elongator complex.
Dauden MI et al.
Febs Letters, 2018
Dimerization of elongator protein 1 is essential for Elongator complex assembly.
Xu H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.
Sun H et al.
Journal of Proteome Research, 2015
25698088 (PubMed )
Supplement: pr500944c_si_009.xlsx › SNV
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
Kim HJ et al.
Orphanet Journal of Rare Diseases, 2013
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
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.
Montenegro G et al.
Annals of Neurology, 2011
Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension.
Kokubo Y et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2006
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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