Associated Papers
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.
Topping J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1
Rare variant associations with plasma protein levels in the UK Biobank.
Dhindsa RS et al.
Nature, 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence
Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
Poker Y et al.
Frontiers in Genetics, 2023
36777733 (PubMed )
Supplement: Table2.XLSX › S4-_Variants_vPANEL1_vPANEL2
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Park H et al.
Acta Neuropathologica Communications, 2022
35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
34905135 (PubMed )
Supplement: 43141_2021_268_MOESM2_ESM.xlsx › Sheet1
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
Serra EG et al.
Nature Communications, 2020
32081864 (PubMed )
Supplement: 41467_2019_14275_MOESM1_ESM.pdf
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096
Integrated genomic analyses of de novo pathways underlying atypical meningiomas.
Harmancı AS et al.
Nature Communications, 2017
28195122 (PubMed )
Supplement: ncomms14433-s3.xlsx › Table_S2D
Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes.
Karyadi DM et al.
Oncotarget, 2017
27902461 (PubMed )
Supplement: oncotarget-08-1495-s003.xlsx › Sheet1
Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.
Di Gioia SA et al.
Scientific Reports, 2015
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