(Q37599237)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

title

Clinical exome sequencing: results from 2819 samples reflecting 1000 families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Mohammed Al Balwi

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Rami Abou Jamra

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

author name string

Daniel Trujillano

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Aida M Bertoli-Avella

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Krishna Kumar Kandaswamy

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Maximilian Er Weiss

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Julia Köster

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Anett Marais

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Omid Paknia

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Rolf Schröder

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Martin Werber

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Oliver Brandau

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Maria Calvo Del Castillo

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Caterina Baldi

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Karen Wessel

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Shivendra Kishore

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Nahid Nahavandi

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Wafaa Eyaid

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Muhammad Talal Al Rifai

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Ahmed Al-Rumayyan

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Waleed Al-Twaijri

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Ali Alothaim

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Amal Alhashem

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Nouriya Al-Sannaa

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Majid Alfadhel

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Arndt Rolfs

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

publication date

16 November 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

27 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

page(s)

176-182

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

27 March 2020

copyright license

start time

16 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2016.146

0 references

cites work

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Automatic concept recognition using the human phenotype ontology reference and test suite corpora

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Clinical exome sequencing for genetic identification of rare Mendelian disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Molecular findings among patients referred for clinical whole-exome sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Genome sequencing identifies major causes of severe intellectual disability

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

ClinVar: public archive of relationships among sequence variation and human phenotype

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Novel SCN3A variants associated with focal epilepsy in children

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Saturation of the human phenome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Integrative genomics viewer

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

A functional null mutation of SCN1B in a patient with Dravet syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Genetic disorders in children and young adults: a population study

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

The burden of genetic disease on inpatient care in a children's hospital

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Practical considerations in the clinical application of whole-exome sequencing

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Clinical whole-exome sequencing: are we there yet?

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Homozygous variegate porphyria presenting with developmental and language delay in childhood

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255946

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2016.146

21 January 2018

Identifiers

DOI

10.1038/EJHG.2016.146

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27848944%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference