(Q52143884)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

title

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

disability affecting intellectual abilities

31 March 2020

main subject

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

author name string

Christina Evers

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Lilian Kaufmann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Angelika Seitz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Nagarajan Paramasivam

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Martin Granzow

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Stephanie Karch

6

1 reference

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31 March 2020

Christine Fischer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Katrin Hinderhofer

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Georg Gdynia

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Michael Elsässer

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Stefan Pinkert

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Claus R Bartram

13

1 reference

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31 March 2020

Ute Moog

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

language of work or name

English

0 references

publication date

26 March 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

31 March 2020

published in

1 reference

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31 March 2020

volume

170

1 reference

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31 March 2020

issue

6

1 reference

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31 March 2020

page(s)

1502-1509

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

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

31 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Predicting the functional effect of amino acid substitutions and indels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Identification of deleterious mutations within three human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Proteomics analysis reveals stable multiprotein complexes in both fission and budding yeasts containing Myb-related Cdc5p/Cef1p, novel pre-mRNA splicing factors, and snRNAs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Cerebellar hypoplasia: differential diagnosis and diagnostic approach.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Systematic two-hybrid and comparative proteomic analyses reveal novel yeast pre-mRNA splicing factors connected to Prp19.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Predicting the functional impact of protein mutations: application to cancer genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Recent advances in the genetics of cerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

A human protein-protein interaction network: a resource for annotating the proteome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

Non-progressive congenital ataxia with cerebellar hypoplasia in three families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37632

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37632

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27016154%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

1 reference