(Q50868982)

24 March 2018

title

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants. (English)

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24 March 2018

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2

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24 March 2018

Orla Hardiman

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3

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24 March 2018

Daniel G. Bradley

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4

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24 March 2018

author name string

Kevin P Kenna

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1

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24 March 2018

publication date

26 March 2013

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24 March 2018

published in

Human Mutation

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24 March 2018

volume

34

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24 March 2018

issue

6

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24 March 2018

page(s)

836-841

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24 March 2018

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

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Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia.

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Sports and trauma in amyotrophic lateral sclerosis revisited

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Exome sequencing as a tool for Mendelian disease gene discovery

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Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

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High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

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Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis

21 January 2018

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21 January 2018

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PhenCode: connecting ENCODE data with mutations and phenotype

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ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

21 January 2018

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Senataxin mutations and amyotrophic lateral sclerosis

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Exome sequencing reveals VCP mutations as a cause of familial ALS

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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

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Tabix: fast retrieval of sequence features from generic TAB-delimited files

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Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases

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Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

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Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis

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Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

21 January 2018

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Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.

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Exome sequencing identifies the cause of a mendelian disorder

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SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

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Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes

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Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.

21 January 2018

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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

21 January 2018

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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

21 January 2018

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Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis

21 January 2018

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Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis

21 January 2018

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7 January 2021

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

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7 January 2021

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis

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7 January 2021

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

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7 January 2021

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22303

1 reference

24 March 2018

1 reference

24 March 2018