(Q38283644)

1 September 2017

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11. (English)

1 reference

1 September 2017

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937357%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Patricia Blanco-Arias

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937357%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Jorge Amigo

5

1 reference

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31 May 2020

Ángel Carracedo

6

1 reference

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31 May 2020

author name string

Cristina Castro-Fernández

1

1 reference

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31 May 2020

Luis Santomé-Collazo

4

1 reference

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31 May 2020

Maria-Jesús Sobrido

7

1 reference

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31 May 2020

publication date

26 June 2015

1 reference

Applied & translational genomics

1 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937357%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

5

1 reference

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31 May 2020

page(s)

33-36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937357%20AND%20SRC:MED&resulttype=core&format=json

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

31 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

Integrative genomics viewer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

BEDTools: a flexible suite of utilities for comparing genomic features

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in the SPG11 Gene

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745395

Medical genomics: The intricate path from genetic variant identification to clinical interpretation

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26937357

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.ATG.2015.05.005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937357%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937357%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937357%20AND%20SRC:MED&resulttype=core&format=json