Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration (Q34238817)

31 July 2017

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Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration (English)

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NISC Comparative Sequencing Program

31 July 2017

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object named as

NISC Comparative Sequencing Program

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11

James C Mullikin

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Tyler Mark Pierson

1

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31 July 2017

Dimitre R Simeonov

2

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31 July 2017

Murat Sincan

3

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David A Adams

4

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Thomas Markello

5

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Gretchen Golas

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Karin Fuentes-Fajardo

7

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Nancy F Hansen

8

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Praveen F Cherukuri

9

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Pedro Cruz

10

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Craig Blackstone

12

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Cynthia Tifft

13

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Cornelius F Boerkoel

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William A Gahl

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7 December 2011

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European Journal of Human Genetics

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20

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4

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476-479

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https://scigraph.springernature.com/pub.10.1038/ejhg.2011.222

31 July 2017

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cites work

Central nervous system dysfunction in a mouse model of FA2H deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306865

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306865

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306865

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306865

Fatty acid 2-Hydroxylation in mammalian sphingolipid biology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306865

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306865

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306865

Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin sheath degeneration

6 July 2018

1 reference

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A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306865

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping 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=3306865

The human FA2H gene encodes a fatty acid 2-hydroxylase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306865

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.222

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306865

Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306865

28 October 2018

Identifiers

DOI

10.1038/EJHG.2011.222

1 reference

31 July 2017

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31 July 2017

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