(Q48051480)

8 February 2018

title

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience (English)

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8 February 2018

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6

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8 February 2018

author name string

Jing Wang

1

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8 February 2018

Eric S Schmitt

2

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8 February 2018

Megan L Landsverk

3

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8 February 2018

Victor Wei Zhang

4

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8 February 2018

Fang-Yuan Li

5

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8 February 2018

William J Craigen

7

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8 February 2018

Lee-Jun C Wong

8

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8 February 2018

language of work or name

English

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publication date

8 March 2012

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8 February 2018

published in

Genetics in Medicine

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8 February 2018

volume

14

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8 February 2018

issue

6

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8 February 2018

page(s)

620-626

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8 February 2018

https://scigraph.springernature.com/pub.10.1038/gim.2012.4

exact match

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cites work

mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

An enhanced MITOMAP with a global mtDNA mutational phylogeny

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

Mitochondrial genome variation and the origin of modern humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

MELAS: clinical features, biochemistry, and molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

Mamit-tRNA, a database of mammalian mitochondrial tRNA primary and secondary structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

Computational prediction of the functional effects of amino acid substitutions in signal peptides using a model-based approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.4

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/GIM.2012.4

1 reference

8 February 2018

release_jlu4wtekjffujapl57bmb7ppsy

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/jlu4wtekjffujapl57bmb7ppsy

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

8 February 2018