(Q21146677)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25466957%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Lingling Shi

1

Lingling

Shi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25466957%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Bingxiao Li

2

Bingxiao

Li

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25466957%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Yonglan Huang

3

Yonglan

Huang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25466957%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Xueying Ling

4

Xueying

Ling

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25466957%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Tianyun Liu

5

Tianyun

Liu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25466957%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Gholson J Lyon

6

Gholson J

Lyon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25466957%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Kai Wang

8

Kai

Wang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25466957%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

language of work or name

English

0 references

publication date

2014

0 references

published in

BMC Medical Genomics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25466957%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25466957%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

issue

1

0 references

page(s)

66

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25466957%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

10 June 2020

copyright license

start time

1 December 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

A map of human genome variation from population-scale sequencing

19 March 2017

1 reference

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RNA-Seq: a revolutionary tool for transcriptomics

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

I-TASSER server for protein 3D structure prediction

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Metagenomics for studying unculturable microorganisms: cutting the Gordian knot

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Sequencing technologies - the next generation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

The Sequence Alignment/Map format and SAMtools

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

The RCSB Protein Data Bank: new resources for research and education

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Next-generation DNA sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Primer3--new capabilities and interfaces

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Exome sequencing as a tool for Mendelian disease gene discovery

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

RNA sequencing: advances, challenges and opportunities

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

A genotype-first approach to defining the subtypes of a complex disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

The promise of whole-exome sequencing in medical genetics

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

The next-generation sequencing revolution and its impact on genomics

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Whole-genome and whole-exome sequencing in neurological diseases.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Development of high-density genetic maps for barley and wheat using a novel two-enzyme genotyping-by-sequencing approach

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Next generation sequencing in epigenetics: insights and challenges.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Unlocking Mendelian disease using exome sequencing

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Revisiting Mendelian disorders through exome sequencing

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

High-throughput sequencing and clinical microbiology: progress, opportunities and challenges

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Population genetic inference from genomic sequence variation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Mapping genes for complex traits in domestic animals and their use in breeding programmes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

The frequency of lysosomal storage diseases in The Netherlands.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Prevalence of lysosomal storage disorders

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

NAGLU mutations underlying Sanfilippo syndrome type B.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Incidence of the mucopolysaccharidoses in Northern Ireland

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267425

Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12920-014-0066-9

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease).

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12920-014-0066-9

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12920-014-0066-9

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)

21 January 2018

1 reference

12 December 2020

[Enzymatic diagnosis and clinical characteristics of 52 children with mucopolysaccharidosis]

1 reference

12 December 2020

Incidence of the mucopolysaccharidoses in Western Australia

1 reference

12 December 2020

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes

1 reference

12 December 2020

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA)

1 reference

12 December 2020

Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan

1 reference

12 December 2020

10.1186/S12920-014-0066-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25466957%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

10 June 2020

1053494721

0 references

Fatcat ID

release_azekaj3pcnfyhbtfra3odalvmq

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25466957%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

PubMed publication ID

25466957

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25466957%20AND%20SRC:MED&resulttype=core&format=json