(Q43054775)

13 November 2017

Exome sequencing as a diagnostic tool for pediatric-onset ataxia (English)

1 reference

13 November 2017

Jodi Warman Chardon

6

0 references

Jeremy Schwartzentruber

object named as

Jeremy Schwartzentruber

2

0 references

Guy A. Rouleau

8

object named as

Guy A Rouleau

1 reference

13 November 2017

12

Robert A Hegele

0 references

Kym M Boycott

18

object named as

Kym M Boycott

1 reference

13 November 2017

17

Mark Tarnopolsky

1 reference

13 November 2017

16

Jacek Majewski

1 reference

13 November 2017

14

FORGE Canada Consortium

1 reference

13 November 2017

3

Chandree L Beaulieu

1 reference

13 November 2017

15

Dennis E Bulman

1 reference

13 November 2017

9

Oksana Suchowersky

1 reference

13 November 2017

Sarah L Sawyer

1

1 reference

13 November 2017

David Dyment

4

1 reference

13 November 2017

Amanda Smith

5

1 reference

13 November 2017

Grace Yoon

7

1 reference

13 November 2017

Victoria Siu

10

1 reference

13 November 2017

Lisa Murphy

11

1 reference

13 November 2017

Christian R Marshall

13

1 reference

13 November 2017

1 January 2014

1 reference

13 November 2017

1 reference

13 November 2017

35

1 reference

13 November 2017

45-49

1 reference

13 November 2017

1

1 reference

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

13 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Targeted exome sequencing of suspected mitochondrial disorders

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Exome sequencing can improve diagnosis and alter patient management

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

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

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Exome sequencing: dual role as a discovery and diagnostic tool

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Exome sequencing as a tool for Mendelian disease gene discovery

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Exome sequencing: a transformative technology

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Whole exome and whole genome sequencing

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

What can exome sequencing do for you?

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

A framework for variation discovery and genotyping using next-generation DNA sequencing data

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

MutationTaster evaluates disease-causing potential of sequence alterations

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

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

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

A method and server for predicting damaging missense mutations

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Identification of deleterious mutations within three human genomes

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

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

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

The Sequence Alignment/Map format and SAMtools

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Fast and accurate short read alignment with Burrows-Wheeler transform

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Distribution and intensity of constraint in mammalian genomic sequence

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Diagnostic exome sequencing in persons with severe intellectual disability

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4255313

Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24108619

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22451

1 reference

13 November 2017

1 reference

13 November 2017

1 reference