(Q34456701)

2 August 2017

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases (English)

1 reference

Johanna Christina Czeschik

2 August 2017

1 reference

8

Tomasz Zemojtel

0 references

3

Johanna Christina Czeschik

0 references

Peter Robinson

9

Peter N Robinson

0 references

Damian Smedley

1

Damian Smedley

1 reference

2 August 2017

Sebastian Köhler

2

0 references

Ada Hamosh

6

Ada Hamosh

1 reference

2 August 2017

Joanna Amberger

4

1 reference

2 August 2017

Carol Bocchini

5

1 reference

2 August 2017

Julian Veldboer

7

1 reference

2 August 2017

language of work or name

English

0 references

publication date

30 July 2014

1 reference

2 August 2017

8

1 reference

based on heuristic

inferred from page(s)

published in

Bioinformatics

1 reference

2 August 2017

30

1 reference

2 August 2017

22

1 reference

2 August 2017

3215-3222

1 reference

Creative Commons Attribution 4.0 International

2 August 2017

start time

7 November 2016

1 reference

April 2023 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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A general framework for estimating the relative pathogenicity of human genetic variants

6 July 2018

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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

6 July 2018

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Improved exome prioritization of disease genes through cross-species phenotype comparison

6 July 2018

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Integrative annotation of variants from 1092 humans: application to cancer genomics

6 July 2018

1 reference

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

6 July 2018

1 reference

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eXtasy: variant prioritization by genomic data fusion.

6 July 2018

1 reference

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Rare-disease genetics in the era of next-generation sequencing: discovery to translation

6 July 2018

1 reference

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Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Adding protein context to the human protein-protein interaction network to reveal meaningful interactions.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Chapter 4: Protein interactions and disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

PriVar: a toolkit for prioritizing SNVs and indels from next-generation sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Enhancing the prioritization of disease-causing genes through tissue specific protein interaction networks

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

NMNAT1 mutations cause Leber congenital amaurosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Computational tools for prioritizing candidate genes: boosting disease gene discovery

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Unlocking Mendelian disease using exome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

A probabilistic disease-gene finder for personal genomes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

The variant call format and VCFtools

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Strategies for exome and genome sequence data analysis in disease-gene discovery projects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

A guide to web tools to prioritize candidate genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Tabix: fast retrieval of sequence features from generic TAB-delimited files

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

The characterization of twenty sequenced human genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

MutationTaster evaluates disease-causing potential of sequence alterations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Protein-protein interactions essentials: key concepts to building and analyzing interactome networks

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

A method and server for predicting damaging missense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

The power of protein interaction networks for associating genes with diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Walking the interactome for prioritization of candidate disease genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

A human phenome-interactome network of protein complexes implicated in genetic disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Analysis of protein sequence and interaction data for candidate disease gene prediction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Gene prioritization through genomic data fusion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Mendelian disorders deserve more attention

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

POCUS: mining genomic sequence annotation to predict disease genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Finding genes that underlie complex traits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Association of genes to genetically inherited diseases using data mining

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

Accounting for human polymorphisms predicted to affect protein function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221119

International Rare Disease Research Consortium commits to aggressive goals.

6 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTU508

A mutation in the thyroid hormone receptor alpha gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTU508

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTU508

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTU508

Familial diarrhea syndrome caused by an activating GUCY2C mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTU508

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTU508

Database resources of the National Center for Biotechnology Information

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTU508

Predicting disease genes using protein-protein interactions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTU508

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTU508

Network medicine--from obesity to the "diseasome"

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25078397

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BIOINFORMATICS/BTU508

1 reference

journals/bioinformatics/SmedleyKCABHVZR14

2 August 2017

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

2 August 2017

1 reference