(Q34474098)

2 August 2017

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing (English)

1 reference

2 August 2017

Rita Horvath

6

0 references

Terry Speed

13

object named as

Terence P Speed

1 reference

2 August 2017

Wenyi Wang

1

1 reference

2 August 2017

Peidong Shen

2

1 reference

2 August 2017

Sreedevi Thiyagarajan

3

1 reference

2 August 2017

Shengrong Lin

4

1 reference

2 August 2017

Curtis Palm

5

1 reference

2 August 2017

Thomas Klopstock

7

1 reference

2 August 2017

David Cutler

8

1 reference

2 August 2017

Lynn Pique

9

1 reference

2 August 2017

Iris Schrijver

10

1 reference

2 August 2017

Ronald W Davis

11

1 reference

2 August 2017

Michael Mindrinos

12

1 reference

2 August 2017

Curt Scharfe

14

1 reference

2 August 2017

language of work or name

English

0 references

publication date

15 September 2010

1 reference

2 August 2017

Nucleic Acids Research

1 reference

2 August 2017

39

1 reference

2 August 2017

44-58

1 reference

2 August 2017

1

1 reference

Creative Commons Attribution-NonCommercial 2.5 Generic

2 August 2017

start time

7 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Optimized detection of sequence variation in heterozygous genomes using DNA microarrays with isothermal-melting probes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

A SNP discovery method to assess variant allele probability from next-generation resequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Intra- and inter-molecular recombination of mitochondrial DNA after in vivo induction of multiple double-strand breaks

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Loss of p53 causes mitochondrial DNA depletion and altered mitochondrial reactive oxygen species homeostasis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Mapping gene associations in human mitochondria using clinical disease phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

High-throughput, high-accuracy array-based resequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Evaluation of next generation sequencing platforms for population targeted sequencing studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

A single-sample method for normalizing and combining full-resolution copy numbers from multiple platforms, labs and analysis methods

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Estimating genome-wide copy number using allele-specific mixture models

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

A comprehensive assay for targeted multiplex amplification of human DNA sequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Common and rare variants in multifactorial susceptibility to common diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Increased mitochondrial DNA damage and down-regulation of DNA repair enzymes in aged rodent retinal pigment epithelium and choroid

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Overview of DNA sequencing strategies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

A bioinformatic filter for improved base-call accuracy and polymorphism detection using the Affymetrix GeneChip whole-genome resequencing platform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

A multi-array multi-SNP genotyping algorithm for Affymetrix SNP microarrays.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Exploration, normalization, and genotype calls of high-density oligonucleotide SNP array data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Automating sequence-based detection and genotyping of SNPs from diploid samples

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Mechanisms of haploinsufficiency revealed by genome-wide profiling in yeast

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

The V368i mutation in Twinkle does not segregate with AdPEO

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Human non-synonymous SNPs: server and survey

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

High-throughput variation detection and genotyping using microarrays

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Diseases caused by nuclear genes affecting mtDNA stability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Polymorphisms of the ApoE, HSD3B1, IL-1beta and p53 genes are associated with the development of early uremic complications in diabetic patients: results of a DNA resequencing array study

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

The beginning of the end for microarrays?

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

A genotype calling algorithm for affymetrix SNP arrays.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Predotar: A tool for rapidly screening proteomes for N-terminal targeting sequences.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Algorithms for large-scale genotyping microarrays.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

New developments in high-throughput resequencing and variation detection using high density microarrays

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Accessing genetic information with high-density DNA arrays.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3017602

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20843780

12 December 2020

inferred from PubMed ID database lookup

Alternative base calling method for resequencing microarrays

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20843780

12 December 2020

inferred from PubMed ID database lookup

Detection of mitochondrial DNA deletions by a screening procedure using the polymerase chain reaction

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20843780

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/NAR/GKQ750

1 reference

journals/nar/WangSTLPHKCPSDMSS11

2 August 2017

1 reference

DBLP Dataset 2021-01-02

release_2dtxphi6i5gyxjkzbjpto5mzuu

28 January 2021

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2dtxphi6i5gyxjkzbjpto5mzuu

24 November 2022

mapped directly with Wikidata item

PMCID

3017602

1 reference

2 August 2017

1 reference