(Q41875907)

13 October 2017

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis (English)

1 reference

13 October 2017

1 reference

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Mustafa Tekin

7

0 references

Rebecca Schüle

8

object named as

Rebecca Schüle

1 reference

13 October 2017

9

Stephan Züchner

1 reference

13 October 2017

Michael A Gonzalez

1

1 reference

13 October 2017

Rafael F Acosta Lebrigio

2

1 reference

13 October 2017

Derek Van Booven

3

1 reference

13 October 2017

Rick H Ulloa

4

1 reference

13 October 2017

Eric Powell

5

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13 October 2017

Fiorella Speziani

6

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13 October 2017

3 April 2013

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13 October 2017

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13 October 2017

34

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13 October 2017

6

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13 October 2017

842-846

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Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

dSarm/Sarm1 is required for activation of an injury-induced axon death pathway

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

A probabilistic disease-gene finder for personal genomes.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

SVA: software for annotating and visualizing sequenced human genomes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

A framework for variation discovery and genotyping using next-generation DNA sequencing data

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

A method and server for predicting damaging missense mutations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

Fast and accurate long-read alignment with Burrows-Wheeler transform

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

Exome sequencing makes medical genomics a reality

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

Exome sequencing identifies the cause of a mendelian disorder

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345138

18 August 2018

Identifiers

DOI

10.1002/HUMU.22305

1 reference

13 October 2017

1 reference

13 October 2017

PubMed publication ID

23463597

1 reference