(Q35073865)

6 August 2017

title

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia (English)

1 reference

6 August 2017

11

Daniel H Geschwind

1 reference

6 August 2017

10

Susan Perlman

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6 August 2017

12

Stanley F Nelson

1 reference

6 August 2017

Brent L Fogel

1

1 reference

6 August 2017

Hane Lee

2

1 reference

6 August 2017

Joshua L Deignan

3

1 reference

6 August 2017

Samuel P Strom

4

1 reference

6 August 2017

Sibel Kantarci

5

1 reference

6 August 2017

Xizhe Wang

6

1 reference

6 August 2017

Fabiola Quintero-Rivera

7

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6 August 2017

Eric Vilain

8

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6 August 2017

Wayne W Grody

9

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6 August 2017

language of work or name

English

0 references

publication date

1 October 2014

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6 August 2017

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6 August 2017

volume

71

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6 August 2017

issue

10

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6 August 2017

page(s)

1237-1246

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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

ACMG clinical laboratory standards for next-generation sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

An integrated map of genetic variation from 1,092 human genomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Complex I deficiency: clinical features, biochemistry and molecular genetics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Childhood cerebellar ataxia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Exome sequencing as a tool for Mendelian disease gene discovery

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

A method and server for predicting damaging missense mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Distribution and intensity of constraint in mammalian genomic sequence

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Predicting deleterious amino acid substitutions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

dbSNP: the NCBI database of genetic variation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

SYNE1 mutations in autosomal recessive cerebellar ataxia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Genomic medicine enters the neurology clinic.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

An approach to the patient with late-onset cerebellar ataxia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4324730

Neurologic features and genotype-phenotype correlation in Wolfram syndrome

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25133958

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMANEUROL.2014.1944

1 reference

6 August 2017

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6 August 2017

1 reference