Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing. (Q40506324)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26402641%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing (English)

1 reference

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24 February 2020

7

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24 February 2020

Ha Yong Kim

10

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24 February 2020

Won Joon Yoo

14

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24 February 2020

Woong-Yang Park

18

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24 February 2020

Tae-Joon Cho

19

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24 February 2020

6

Hae-Ryong Song

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24 February 2020

author name string

Jun-Seok Bae

1

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24 February 2020

Nayoung K D Kim

2

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24 February 2020

Chung Lee

3

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24 February 2020

Sang Cheol Kim

4

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24 February 2020

Hey Ran Lee

5

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24 February 2020

Hyun Woo Kim

8

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24 February 2020

Soon Hyuck Lee

9

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24 February 2020

Soon Chul Lee

11

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24 February 2020

Changhoon Jeong

12

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24 February 2020

Moon Seok Park

13

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24 February 2020

Chin Youb Chung

15

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24 February 2020

In Ho Choi

16

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24 February 2020

Ok-Hwa Kim

17

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24 February 2020

language of work or name

English

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publication date

24 September 2015

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24 February 2020

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24 February 2020

volume

18

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24 February 2020

page(s)

563-569

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24 February 2020

issue

6

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https://scigraph.springernature.com/pub.10.1038/gim.2015.129

24 February 2020

exact match

0 references

cites work

Nosology and classification of genetic skeletal disorders: 2010 revision.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

ACMG clinical laboratory standards for next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

Microarray analysis after RNA amplification can detect pronounced differences in gene expression using limma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

A faster circular binary segmentation algorithm for the analysis of array CGH data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

Antenatal detection of skeletal dysplasias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

Next-generation sequencing for disorders of low and high bone mineral density

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

Challenges of sequencing human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

A practical method to detect SNVs and indels from whole genome and exome sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

Exome sequence read depth methods for identifying copy number changes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

Assessment of the sensitivity and specificity of oligonucleotide (50mer) microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.129

The first FDA marketing authorizations of next-generation sequencing technology and tests: challenges, solutions and impact for future assays

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26402641

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations in WNT1 are a cause of osteogenesis imperfecta

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26402641

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2015.129

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26402641%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

24 February 2020

0 references

1 reference