(Q31116359)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27441994%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

title

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27441994%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

author name string

Aaron M Wenger

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27441994%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Jonathan A Bernstein

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27441994%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

language of work or name

English

0 references

publication date

21 July 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27441994%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27441994%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27441994%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27441994%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

page(s)

209-214

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27441994%20AND%20SRC:MED&resulttype=core&format=json

Molecular findings among patients referred for clinical whole-exome sequencing

19 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

Clinical exome sequencing for genetic identification of rare Mendelian disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

The usefulness of whole-exome sequencing in routine clinical practice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

Clinical application of whole-exome sequencing across clinical indications

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

A Comparison of Variant Calling Pipelines Using Genome in a Bottle as a Reference

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

Choice of transcripts and software has a large effect on variant annotation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

Manual curation is not sufficient for annotation of genomic databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

Synaptic, transcriptional and chromatin genes disrupted in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

Clinical interpretation and implications of whole-genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

Practices and policies of clinical exome sequencing providers: analysis and implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

PhenoTips: patient phenotyping software for clinical and research use.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

A global reference for human genetic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

De novo mutations in MLL cause Wiedemann-Steiner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

The contribution of de novo coding mutations to autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.88

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27441994

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27441994