(Q35607615)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

Whole exome sequencing of suspected mitochondrial patients in clinical practice (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Lambert P van den Heuvel

series ordinal

4

object named as

Lambert van den Heuvel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

3

Jan A Smeitink

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1

Saskia B Wortmann

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

author name string

David A Koolen

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

publication date

4 March 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

2 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

volume

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

page(s)

437-443

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

2 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Genome sequencing identifies major causes of severe intellectual disability

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: an overview of Down syndrome, autism, Fragile X and Rett syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Mitochondrial dysfunction in neuromuscular disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Next-generation sequencing for mitochondrial disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Targeted exome sequencing of suspected mitochondrial disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Molecular genetic testing for mitochondrial disease: from one generation to the next

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Monogenic mitochondrial disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Disease gene identification strategies for exome sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Understanding mitochondrial complex I assembly in health and disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

A method and server for predicting damaging missense mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Detection of nonneutral substitution rates on mammalian phylogenies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

A mitochondrial protein compendium elucidates complex I disease biology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Predicting deleterious amino acid substitutions

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Diagnostic exome sequencing in persons with severe intellectual disability

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Genome and exome sequencing in the clinic: unbiased genomic approaches with a high diagnostic yield

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

A de novo paradigm for mental retardation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Mitochondrial energy production correlates with the age-related BMI.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432107

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-015-9823-Y

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-015-9823-Y

TBR1is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-015-9823-Y

Mitochondrial disease criteria: Diagnostic applications in children

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25735936

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25735936

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-015-9823-Y

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

PubMed publication ID

25735936

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25735936%20AND%20SRC:MED&resulttype=core&format=json