Associated Papers
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
37292598 (PubMed )
Supplement: media-1.xlsx › Variants
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 2021
33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf
Genetic polymorphisms in collagen-related genes are associated with pelvic organ prolapse.
Li L et al.
Menopause (new York, N.y.), 2020
31663982 (PubMed )
Supplement: menop-27-223-s001.xlsx › Sheet1
NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.
Wang B et al.
Scientific Reports, 2018
Single Nucleotide Variant rs2232710 in the Protein Z-Dependent Protease Inhibitor (ZPI, SERPINA10) Gene Is Not Associated with Deep Vein Thrombosis.
Gorski MM et al.
Plos One, 2016
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
Nicotine and oxidative stress induced exomic variations are concordant and overrepresented in cancer-associated genes.
Bavarva JH et al.
Oncotarget, 2014
24947164 (PubMed )
Supplement: oncotarget-05-4788-s001.pdf
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
Rødahl E et al.
American Journal of Ophthalmology, 2013
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
Jeanne M et al.
American Journal of Human Genetics, 2012
Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
Karolak JA et al.
Molecular Vision, 2011
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