(Q35793513)

25917818

10 August 2017

title

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders (English)

1 reference

10 August 2017

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Stilianos Antonarakis

37

1 reference

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10 June 2020

Candice Byers

15

1 reference

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10 June 2020

Anne Czechanski

16

1 reference

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10 June 2020

Laurent Bogdanik

22

1 reference

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10 June 2020

Herbert Pratt

23

1 reference

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10 June 2020

Jeffrey Milbrandt

28

1 reference

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10 June 2020

Robert W Burgess

30

1 reference

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10 June 2020

Federico A Santoni

35

1 reference

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10 June 2020

Periklis Makrythanasis

36

1 reference

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10 June 2020

38

Jay Shendure

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Heather Fairfield

1

1 reference

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10 June 2020

Anuj Srivastava

2

1 reference

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10 June 2020

Guruprasad Ananda

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Rangjiao Liu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Anuradha Lakshminarayana

6

1 reference

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10 June 2020

Belinda S Harris

7

1 reference

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10 June 2020

Son Yong Karst

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Louise A Dionne

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Coleen C Kane

10

1 reference

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10 June 2020

Michelle Curtain

11

1 reference

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10 June 2020

Melissa L Berry

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Patricia F Ward-Bailey

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Ian Greenstein

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Jocelyn Sharp

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Kristina Palmer

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Polyxeni Gudis

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Whitney Martin

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Abby Tadenev

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Bo Chang

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

David G Schroeder

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Gregory A Cox

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Paul Cliften

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Stephen Murray

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

David E Bergstrom

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Leah Rae Donahue

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Hanan Hamamy

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Amira Masri

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Laura G Reinholdt

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

language of work or name

1 reference

27 April 2015

1 reference

10 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

page(s)

948-957

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis

10 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Determinants of mutation rate variation in the human germline

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Diversity of the human LILRB3/A6 locus encoding a myeloid inhibitory and activating receptor pair

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

NGS QC Toolkit: a toolkit for quality control of next generation sequencing data

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Disease gene identification strategies for exome sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Mouse genomic variation and its effect on phenotypes and gene regulation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Mutation discovery in mice by whole exome sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Addressing challenges in the production and analysis of illumina sequencing data

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Illumina sequencing library preparation for highly multiplexed target capture and sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Fine mapping in 94 inbred mouse strains using a high-density haplotype resource

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Targeted capture and massively parallel sequencing of 12 human exomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

The Sequence Alignment/Map format and SAMtools

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

SNP genotyping using the Sequenom MassARRAY iPLEX platform

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Mendelian disorders deserve more attention

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Retroviral elements and their hosts: insertional mutagenesis in the mouse germ line

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Genetic analysis of the neuronal and ubiquitous AP-3 adaptor complexes reveals divergent functions in brain.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Initial sequencing and comparative analysis of the mouse genome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Knockout mice: simple solutions to the problems of genetic background and flanking genes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Gene targeting: technical confounds and potential solutions in behavioral brain research

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

The influence of genetic background on spontaneous and genetically engineered mouse models of complex diseases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Molecular genetic dissection of mouse unconventional myosin-VA: tail region mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Molecular genetic dissection of mouse unconventional myosin-VA: head region mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Spontaneous mutations and mutation rates in the house mouse

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Array CGH analysis of a cohort of Russian patients with intellectual disability.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Pvclust: an R package for assessing the uncertainty in hierarchical clustering.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

The classical mouse mutant postaxial hemimelia results from a mutation in the Wnt 7a gene.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4484392

Preclinical research: Make mouse studies work

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25917818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ON A MODIFIED MENDELIAN RATIO AMONG YELLOW MICE

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25917818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GR.186882.114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

25917818

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25917818%20AND%20SRC:MED&resulttype=core&format=json