(Q37550264)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

Stilianos Antonarakis

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Federico A Santoni

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Periklis Makrythanasis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

5

Daniel Robyr

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Sergey Nikolaev

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Michel Guipponi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Armand Bottani

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

publication date

3 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

page(s)

349-355

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

4 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

Rare variant detection using family-based sequencing analysis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

High-throughput sequencing and rare genetic diseases.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

A likelihood-based framework for variant calling and de novo mutation detection in families

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

Comprehensive molecular characterization of human colon and rectal cancer

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

Exome sequencing as a tool for Mendelian disease gene discovery

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

Variation in genome-wide mutation rates within and between human families

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

MutationTaster evaluates disease-causing potential of sequence alterations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

A method and server for predicting damaging missense mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

BEDTools: a flexible suite of utilities for comparing genomic features

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

Identification of deleterious mutations within three human genomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

The Sequence Alignment/Map format and SAMtools

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

Fast and accurate short read alignment with Burrows-Wheeler transform

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912425

Knocking on the clinic door

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24389049

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Adenylosuccinate lyase deficiency: from the clinics to molecular biology

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24389049

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GR.163832.113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

PubMed publication ID

24389049

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389049%20AND%20SRC:MED&resulttype=core&format=json