Associated Papers
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf
Exome variants associated with asthma and allergy.
Wjst M
Scientific Reports, 2022
36470944 (PubMed )
Supplement: 41598_2022_24960_MOESM1_ESM.pdf
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › _8773__III-7_
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
Detection and interpretation of shared genetic influences on 42 human traits.
Pickrell JK et al.
Nature Genetics, 2016
27182965 (PubMed )
Supplement: NIHMS780506-supplement-5.pdf
D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2.
Lin AP et al.
Nature Communications, 2015
26178471 (PubMed )
Supplement: ncomms8768-s1.pdf
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Witkiewicz AK et al.
Nature Communications, 2015
25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES
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-A04Y-01A.domain
Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.
Brehmer S et al.
Neuropathology and Applied Neurobiology, 2011
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