(Q36581402)

English

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

scientific article published on 5 January 2016

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scholarly article

1 reference

Europe PubMed Central

15 August 2017

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain (English)

1 reference

Europe PubMed Central

15 August 2017

Roman A. Laskowski

1

1 reference

Europe PubMed Central

15 August 2017

8

1 reference

Europe PubMed Central

15 August 2017

Caroline F. Wright

object named as

Caroline F Wright

11

0 references

9

object named as

Helen V Firth

1 reference

Europe PubMed Central

15 August 2017

10

object named as

DDD Study

1 reference

Europe PubMed Central

15 August 2017

4

object named as

Shelagh Joss

1 reference

Europe PubMed Central

15 August 2017

7

object named as

Miranda Splitt

1 reference

Europe PubMed Central

15 August 2017

author name string

Nidhi Tyagi

2

1 reference

Europe PubMed Central

15 August 2017

Diana Johnson

3

1 reference

Europe PubMed Central

15 August 2017

Esther Kinning

5

1 reference

Europe PubMed Central

15 August 2017

Catherine McWilliam

6

1 reference

Europe PubMed Central

15 August 2017

publication date

5 January 2016

1 reference

Europe PubMed Central

15 August 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

15 August 2017

25

1 reference

Europe PubMed Central

15 August 2017

927-935

1 reference

Europe PubMed Central

15 August 2017

5

1 reference

Europe PubMed Central

15 August 2017

Gene-panel sequencing and the prediction of breast-cancer risk

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

ClinGen--the Clinical Genome Resource

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

WDSPdb: a database for WD40-repeat proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Diagnostic clinical genome and exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

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

1 reference

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9 September 2017

Amino acid changes in disease-associated variants differ radically from variants observed in the 1000 genomes project dataset.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

DbVar and DGVa: public archives for genomic structural variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Identifying the hotspots on the top faces of WD40-repeat proteins from their primary sequences by β-bulges and DHSW tetrads

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Mutant p53: one name, many proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Exome sequencing as a tool for Mendelian disease gene discovery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Structure and function of WD40 domain proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

The effect of Asp-His-Ser/Thr-Trp tetrad on the thermostability of WD40-repeat proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

WD40 proteins propel cellular networks.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

A highly annotated whole-genome sequence of a Korean individual

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

TBL1-TBLR1 and beta-catenin recruit each other to Wnt target-gene promoter for transcription activation and oncogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Predicting the effects of amino acid substitutions on protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Novel functional features of the Lis-H domain: role in protein dimerization, half-life and cellular localization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Secondary-structure matching (SSM), a new tool for fast protein structure alignment in three dimensions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

WebLogo: A Sequence Logo Generator

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Beta-propellers: associated functions and their role in human diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Scoring residue conservation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

The Protein Data Bank

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

9 September 2017

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

28 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

28 June 2018

Large-scale discovery of novel genetic causes of developmental disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

20 September 2018

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

20 September 2018

Policy challenges of clinical genome sequencing

2 references

https://api.crossref.org/works/10.1093%2FHMG%2FDDV625

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4754046

21 October 2018

Performance of mutation pathogenicity prediction methods on missense variants

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV625

21 January 2018

De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability

1 reference

https://pubmed.ncbi.nlm.nih.gov/26740553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/26740553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDV625

1 reference

Europe PubMed Central

15 August 2017

1 reference

Europe PubMed Central

15 August 2017

1 reference

Europe PubMed Central

15 August 2017

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