Associated Papers
A dominant variant in apoptosis-related gene XKR8 is relevant to hereditary auditory neuropathy.
Chen K et al.
Journal of Translational Medicine, 2023
37101210 (PubMed )
Supplement: 12967_2023_4139_MOESM1_ESM.xlsx › all.byhand.hg19
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.
Lin D et al.
Bmc Medical Genomics, 2023
36703207 (PubMed )
Supplement: 12920_2023_1442_MOESM4_ESM.xlsx › Sheet1
Cellular and genetic drivers of RNA editing variation in the human brain.
Cuddleston WH et al.
Nature Communications, 2022
35637184 (PubMed )
Supplement: 41467_2022_30531_MOESM8_ESM.xlsx › Putative_novel_recoding_events
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7
Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2.
Zhou B et al.
Nucleic Acids Research, 2019
30864654 (PubMed )
Supplement: gkz169_supplemental_files.zip › Table_S5_-_HepG2___COSMIC_Overlap.xlsx › SNPs
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
Kvarnung M et al.
Frontiers in Genetics, 2019
31608123 (PubMed )
Supplement: Table_2.xlsx › Sheet1
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E et al.
Scientific Reports, 2017
28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM4_ESM.xls › 3821-rare_exonic_variants
A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.
Chen K et al.
Bmc Medical Genetics, 2017
Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.
Zeltner N et al.
Nature Medicine, 2016
27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › homozygous_variants
The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.
Damgaard RB et al.
Cell, 2016
27523608 (PubMed )
Supplement: mmc2.xlsx › Homozygous_Variants_S2
Multiple region whole-exome sequencing reveals dramatically evolving intratumor genomic heterogeneity in esophageal squamous cell carcinoma.
Cao W et al.
Oncogenesis, 2015
26619400 (PubMed )
Supplement: oncsis201534x4.xls › Table_S3_PtB_nonsilmutation.txt
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.
Duarri A et al.
Plos One, 2015
Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa.
Alkan C et al.
Bmc Genomics, 2014
25376095 (PubMed )
Supplement: 12864_2014_6660_MOESM4_ESM.pdf
Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.
Egan JB et al.
Plos One, 2014
24505276 (PubMed )
Supplement: pone.0087113.s004.xls › Table_S3
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