(Q64240142)

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Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus

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21 April 2020

Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus (English)

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21 April 2020

whole genome sequencing

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based on heuristic

inferred from title

systemic lupus erythematosus

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based on heuristic

inferred from title

Jonas Carlsson Almlöf

1

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21 April 2020

Christopher Sjöwall

6

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21 April 2020

Johanna Sandling

12

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21 April 2020

Ann-Christine Syvänen

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Ann-Christine Syvänen

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21 April 2020

Maija-Leena Eloranta

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Maija-Leena Eloranta

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21 April 2020

Andreas Jönsen

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Andreas Jönsen

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21 April 2020

9

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Iva Gunnarsson

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21 April 2020

3

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Dag Leonard

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21 April 2020

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Lars Rönnblom

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21 April 2020

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Sara Nystedt

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21 April 2020

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Giorgia Grosso

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21 April 2020

Elisabet Svenungsson

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Elisabet Svenungsson

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21 April 2020

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Anders A Bengtsson

7

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21 April 2020

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1 February 2019

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21 April 2020

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21 April 2020

138

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21 April 2020

2

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21 April 2020

141-150

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21 April 2020

copyright license

Creative Commons Attribution 4.0 International

1 February 2019

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

https://scigraph.springernature.com/pub.10.1007/s00439-018-01966-7

0 references

The 1982 revised criteria for the classification of systemic lupus erythematosus

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incidence of systemic lupus erythematosus. Race and gender differences

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A role of the Ca2+/Mg2+-dependent endonuclease in apoptosis and its inhibition by Poly(ADP-ribose) polymerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Systemic lupus erythematosus, complement deficiency, and apoptosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

dbSNP: the NCBI database of genetic variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Essential role of mda-5 in type I IFN responses to polyriboinosinic:polyribocytidylic acid and encephalomyocarditis picornavirus

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygosity for a Mendelian disorder as a risk factor for complex disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST).

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A method and server for predicting damaging missense mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A data-adaptive sum test for disease association with multiple common or rare variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functionally defective germline variants of sialic acid acetylesterase in autoimmunity

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Promise and pitfalls of the Immunochip

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of hereditary C1q deficiency--revisited: identification of several novel disease-causing mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rare-variant association testing for sequencing data with the sequence kernel association test

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ChromHMM: automating chromatin-state discovery and characterization

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heritability versus the role of the environment in autoimmunity

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The structure of human DNase I bound to magnesium and phosphate ions points to a catalytic mechanism common to members of the DNase I-like superfamily

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apoptotic DNA fragmentation may be a cooperative activity between caspase-activated deoxyribonuclease and the poly(ADP-ribose) polymerase-regulated DNAS1L3, an endoplasmic reticulum-localized endonuclease that translocates to the nucleus during apop

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural basis for dsRNA recognition, filament formation, and antiviral signal activation by MDA5

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural basis of the C1q/C1s interaction and its central role in assembly of the C1 complex of complement activation

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic and epigenetic fine mapping of causal autoimmune disease variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Systemic Lupus Erythematosus--A Disease with A Dysregulated Type I Interferon System.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic risk prediction of complex human disease and its clinical application

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A global reference for human genetic variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New insights into the immunopathogenesis of systemic lupus erythematosus.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

C1q Deficiency and Neuropsychiatric Systemic Lupus Erythematosus

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic advances in systemic lupus erythematosus: an update.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transancestral mapping and genetic load in systemic lupus erythematosus

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel risk genes for systemic lupus erythematosus predicted by random forest classification

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo mutations implicate novel genes in Systemic Lupus Erythematosus.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Host DNases prevent vascular occlusion by neutrophil extracellular traps

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A benchmark study of scoring methods for non-coding mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Whole‑genome sequencing of a monozygotic twin discordant for systemic lupus erythematosus.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30707351

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-018-01966-7

1 reference

Europe PubMed Central

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21 April 2020

Dimensions Publication ID

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1 reference

Europe PubMed Central

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21 April 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30707351%20AND%20SRC:MED&resulttype=core&format=json

21 April 2020

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