Associated Papers
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1
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
A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.
Choi J et al.
Science Advances, 2023
37556544 (PubMed )
Supplement: sciadv.adg6319_tables_s5_s6_s9_and_s11.zip › Table_S11.xlsx › Table_S11
Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.
Willems SM et al.
Wellcome Open Research, 2023
The trans-ancestral genomic architecture of glycemic traits.
Chen J et al.
Nature Genetics, 2021
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2
Genome-wide meta-analysis in Japanese populations identifies novel variants at the TMC6-TMC8 and SIX3-SIX2 loci associated with HbA1c.
Hachiya T et al.
Scientific Reports, 2017
A novel homozygous DOCK8 mutation associated with unusual coexistence of gross molluscum contagiosum and epidermodysplasia verruciformis in a DOCK8 deficiency patient.
Liu YQ et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017
Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult.
Tahiat A et al.
The Journal of Allergy and Clinical Immunology, 2017
Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.
Unknown Author
Nature Genetics, 2016
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Szeto CY et al.
Febs Open Bio, 2014
24490137 (PubMed )
Supplement: mmc5.xlsx › all_info
Homozygosity for the c.917A→T (p.N306l) polymorphism in the EVER2/TMC8 gene of two sisters with epidermodysplasia verruciformis Lewandowsky-Lutz originally described by Wilhelm Lutz.
Arnold AW et al.
Dermatology (basel, Switzerland), 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
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