(Q38007323)

26 August 2017

Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism (English)

1 reference

26 August 2017

Edwin Cuppen

5

0 references

Gijs van Haaften

object named as

Gijs van Haaften

3

0 references

author name string

Sabine A Fuchs

1

1 reference

26 August 2017

Magdalena Harakalova

2

1 reference

26 August 2017

Peter M van Hasselt

4

1 reference

26 August 2017

Roderick H J Houwen

6

1 reference

26 August 2017

4 May 2012

1 reference

26 August 2017

1 reference

26 August 2017

4

1 reference

26 August 2017

7

1 reference

26 August 2017

606-613

1 reference

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

26 August 2017

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Direct selection of human genomic loci by microarray hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Genome-wide in situ exon capture for selective resequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

What can exome sequencing do for you?

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Unlocking Mendelian disease using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Increased hepatic copper concentration in Indian childhood cirrhosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Early introduction of copper-contaminated animal milk feeds as a possible cause of Indian childhood cirrhosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

First description of "Indian childhood cirrhosis" in a non-Indian infant in Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Copper-associated liver disease in North Ronaldsay sheep: a possible animal model for non-Wilsonian hepatic copper toxicosis of infancy and childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Writings on genetic linkage in the annals

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Novel genomic techniques open new avenues in the analysis of monogenic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

The GENCODE exome: sequencing the complete human exome

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Exome sequencing identifies ZNF644 mutations in high myopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Genotype and SNP calling from next-generation sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Genetic variation in an individual human exome

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Predicting the effects of amino acid substitutions on protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Exome sequencing of two patients in a family with atypical X-linked leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Target-enrichment strategies for next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

Methods for genomic partitioning

21 January 2018

1 reference

https://api.crossref.org/works/10.1039%2FC2MT20034A

21 January 2018

Identifiers

DOI

10.1039/C2MT20034A

1 reference

26 August 2017

1 reference