(Q58585729)

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Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method

scientific article published on 08 November 2018

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30406974%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method (English)

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Europe PubMed Central

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2 May 2020

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6

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2 May 2020

8

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Europe PubMed Central

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2 May 2020

Elke Holinski-Feder

5

object named as

Elke Holinski-Feder

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2 May 2020

Stephanie Kleinle

3

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Stephanie Kleinle

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2 May 2020

author name string

Florentine Scharf

2

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2 May 2020

Ulrike Schön

4

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2 May 2020

Anna Benet-Pagès

7

1 reference

Europe PubMed Central

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2 May 2020

Angela Abicht

1

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2 May 2020

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publication date

8 November 2018

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2 May 2020

Molecular genetics & genomic medicine

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2 May 2020

6

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Europe PubMed Central

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2 May 2020

6

1 reference

Europe PubMed Central

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2 May 2020

1188-1198

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30406974%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Mitochondrial threshold effects.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA-like sequences in the nucleus (NUMTs): insights into our African origins and the mechanism of foreign DNA integration

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid quantification of the heteroplasmy of mutant mitochondrial DNAs in Leber's hereditary optic neuropathy using the Invader technology

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of mitochondrial DNA mutations using temporal temperature gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Standard Reference Material to determine the sensitivity of techniques for detecting low-frequency mutations, SNPs, and heteroplasmies in mitochondrial DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

2006 GEP-ISFG collaborative exercise on mtDNA: reflections about interpretation, artefacts, and DNA mixtures.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Investigation of heteroplasmy in the human mitochondrial DNA control region: a synthesis of observations from more than 5000 global population samples

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implications

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Factors affecting the detection and quantification of mitochondrial point heteroplasmy using Sanger sequencing and SNaPshot minisequencing.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation threshold distinguishes the antitumorigenic effects of the mitochondrial gene MTND1, an oncojanus function.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial genomes gleaned from human whole-exome sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MitoSeek: extracting mitochondria information and performing high-throughput mitochondria sequencing analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial genetics

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative assessment of heteroplasmy of mitochondrial genome: perspectives in diagnostics and methodological pitfalls

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Massively parallel pyrosequencing of the mitochondrial genome with the 454 methodology in forensic genetics

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genomic landscape of polymorphic human nuclear mitochondrial insertions

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Next-generation sequencing of the mitochondrial genome and association with IgA nephropathy in a renal transplant population.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PCR-Free Enrichment of Mitochondrial DNA from Human Blood and Cell Lines for High Quality Next-Generation DNA Sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Guidelines for diagnostic next-generation sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanding Our Understanding of mtDNA Deletions.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30406974

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/MGG3.500

1 reference

Europe PubMed Central

PMC publication ID

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2 May 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30406974%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30406974%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

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