(Q33942299)

30 July 2017

title

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome (English)

1 reference

30 July 2017

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Jeremy Schwartzentruber

3

object named as

Jeremy Schwartzentruber

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Jacek Majewski

17

object named as

Jacek Majewski

1 reference

30 July 2017

5

A Micheil Innes

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30 July 2017

Jillian S Parboosingh

19

object named as

Jillian S Parboosingh

1 reference

30 July 2017

20

Francois P Bernier

1 reference

30 July 2017

15

Ravi Savarirayan

1 reference

30 July 2017

Danielle C Lynch

1

1 reference

30 July 2017

Timothée Revil

2

1 reference

30 July 2017

Elizabeth J Bhoj

4

1 reference

30 July 2017

Ryan E Lamont

6

1 reference

30 July 2017

Edmond G Lemire

7

1 reference

30 July 2017

Bernard N Chodirker

8

1 reference

30 July 2017

Juliet P Taylor

9

1 reference

30 July 2017

Elaine H Zackai

10

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30 July 2017

D Ross McLeod

11

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30 July 2017

Edwin P Kirk

12

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30 July 2017

Julie Hoover-Fong

13

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30 July 2017

Leah Fleming

14

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30 July 2017

Care4Rare Canada

16

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30 July 2017

Loydie A Jerome-Majewska

18

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30 July 2017

language of work or name

English

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publication date

22 July 2014

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30 July 2017

published in

Nature Communications

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30 July 2017

volume

5

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30 July 2017

page(s)

4483

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Creative Commons Attribution 4.0 International

30 July 2017

copyright license

start time

22 July 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

An expansive human regulatory lexicon encoded in transcription factor footprints

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

A high-resolution map of human evolutionary constraint using 29 mammals

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

A user's guide to the encyclopedia of DNA elements (ENCODE)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Regulation of alternative splicing by the core spliceosomal machinery

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

A map of human genome variation from population-scale sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Promiscuity of enhancer, coding and non-coding transcription functions in ultraconserved elements

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

The Sequence Alignment/Map format and SAMtools

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Fast and accurate short read alignment with Burrows-Wheeler transform

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Regulation of multiple core spliceosomal proteins by alternative splicing-coupled nonsense-mediated mRNA decay

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Human genome ultraconserved elements are ultraselected

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Ultraconserved elements are associated with homeostatic control of splicing regulators by alternative splicing and nonsense-mediated decay

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

In vivo enhancer analysis of human conserved non-coding sequences

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Use of minigene systems to dissect alternative splicing elements

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Systematic identification and analysis of exonic splicing silencers.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Identification of alternative splicing regulators by RNA interference in Drosophila

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Ultraconserved Elements in the Human Genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Genomewide analysis of mRNA processing in yeast using splicing-specific microarrays

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Crystal structures of two Sm protein complexes and their implications for the assembly of the spliceosomal snRNPs

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4109005

Conserved non-genic sequences - an unexpected feature of mammalian genomes

28 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5483

Evolutionary growth process of highly conserved sequences in vertebrate genomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5483

Alternative isoform regulation in human tissue transcriptomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5483

Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5483

The splicing factor SRp20 modifies splicing of its own mRNA and ASF/SF2 antagonizes this regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5483

Inactivation of LAR family phosphatase genes Ptprs and Ptprf causes craniofacial malformations resembling Pierre-Robin sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5483

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5483

Rib gap defects with micrognathia. The cerebro-costo-mandibular syndrome--a Pierre Robin-like syndrome with rib dysplasia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25047197

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NCOMMS5483

1 reference

Dimensions Publication ID

30 July 2017

0 references

0 references

1 reference

30 July 2017

1 reference