Associated Papers
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL17
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.
Bonnard C et al.
The Journal of Experimental Medicine, 2020
32845958 (PubMed )
Supplement: JEM_20191561_TableS1.xlsx › WES_All
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A et al.
Plos One, 2017
28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1
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-A0EM-01A.domain
Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.
Sosonkina N et al.
Genes & Genomics, 2014
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
Ehret GB et al.
Nature, 2011
21909115 (PubMed )
Supplement: NIHMS314865-supplement-2.xls › sTable7
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