(Q41627557)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

title

Understanding mutational effects in digenic diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

author name string

Andrea Gazzo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Daniele Raimondi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Dorien Daneels

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Yves Moreau

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Guillaume Smits

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Tom Lenaerts

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

publication date

1 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

published in

Nucleic Acids Research

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

volume

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

issue

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

page(s)

e140

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial 4.0 International

30 March 2020

copyright license

start time

27 June 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

The continuum of causality in human genetic disorders

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Exome Sequencing and the Management of Neurometabolic Disorders.

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Multilevel biological characterization of exomic variants at the protein level significantly improves the identification of their deleterious effects

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

The human gene damage index as a gene-level approach to prioritizing exome variants

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

DIDA: A curated and annotated digenic diseases database.

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

The Genetics and the Genomics of Primary Congenital Glaucoma

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Genetics and genomics of autism spectrum disorder: embracing complexity

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Pigmentary disorders of the eyes and skin

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Update on the genetics of bardet-biedl syndrome

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

The Reactome pathway knowledgebase

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Data, information, knowledge and principle: back to metabolism in KEGG

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Digenic inheritance in medical genetics

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

From mouse to human: evolutionary genomics analysis of human orthologs of essential genes

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

An integrated map of genetic variation from 1,092 human genomes

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Computational tools for prioritizing candidate genes: boosting disease gene discovery

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

A systematic survey of loss-of-function variants in human protein-coding genes

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Exome sequencing as a tool for Mendelian disease gene discovery

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

An overview of the genetic dissection of complex traits

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Mechanisms of non-Mendelian inheritance in genetic disease

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Further support for digenic inheritance in Bardet-Biedl syndrome

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

In search of triallelism in Bardet-Biedl syndrome

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Evidence of digenic inheritance in Alport syndrome.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Genetic analyses of Chinese patients with digenic oculocutaneous albinism.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Human Gene Mutation Database (HGMD): 2003 update.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5587785

Identifying Important Risk Factors for Survival in Kidney Graft Failure Patients Using Random Survival Forests

19 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FNAR%2FGKX557

Myocilin gene implicated in primary congenital glaucoma

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28911095

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Digenic inheritance and Mendelian disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28911095

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/NAR/GKX557

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28911095%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

1 reference