(Q29144905)

21 June 2017

title

Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis (English)

1 reference

Zinc finger SWIM-type containing 6

21 June 2017

main subject

1 reference

acromelic frontonasal dysostosis

GOA release 2020-03-11

1 reference

10

Deborah A Nickerson

1 reference

21 June 2017

9

Lisa Maves

1 reference

21 June 2017

Brig Mecham

8

1 reference

21 June 2017

University of Washington Center for Mendelian Genomics

11

1 reference

21 June 2017

Joshua D Smith

1

1 reference

21 June 2017

Anne V Hing

2

1 reference

21 June 2017

Christine M Clarke

3

1 reference

21 June 2017

Nathan M Johnson

4

1 reference

21 June 2017

Francisco A Perez

5

1 reference

21 June 2017

Sarah S Park

6

1 reference

21 June 2017

Jeremy A Horst

7

1 reference

21 June 2017

Michael L Cunningham

12

1 reference

21 June 2017

language of work or name

English

0 references

publication date

1 August 2014

1 reference

American Journal of Human Genetics

21 June 2017

published in

1 reference

21 June 2017

volume

95

1 reference

21 June 2017

issue

2

1 reference

21 June 2017

page(s)

235-240

1 reference

ZFIN: enhancements and updates to the Zebrafish Model Organism Database

21 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

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

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

Fast and accurate short read alignment with Burrows-Wheeler transform

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

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

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

The Shh-independent activator function of the full-length Gli3 protein and its role in vertebrate limb digit patterning

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian Hedgehog signaling

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

The neuron-restrictive silencer factor (NRSF): a coordinate repressor of multiple neuron-specific genes

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

REST: a mammalian silencer protein that restricts sodium channel gene expression to neurons

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

Exome sequencing as a tool for Mendelian disease gene discovery

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

The variant call format and VCFtools

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

The mouse Gene Expression Database (GXD): 2014 update

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

Pbx and Prdm1a transcription factors differentially regulate subsets of the fast skeletal muscle program in zebrafish

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

Disease risk of missense mutations using structural inference from predicted function

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

The Drosophila homolog of the mammalian imprint regulator, CTCF, maintains the maternal genomic imprint in Drosophila melanogaster

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

Protein meta-functional signatures from combining sequence, structure, evolution, and amino acid property information

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

Incorporating background frequency improves entropy-based residue conservation measures

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

SWIM, a novel Zn-chelating domain present in bacteria, archaea and eukaryotes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

Acromelic frontonasal dysostosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

NRSF/REST is required in vivo for repression of multiple neuronal target genes during embryogenesis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

Frontonasal "dysplasia," cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

Morphogenesis of Doublefoot (Dbf), a mouse mutant with polydactyly and craniofacial defects.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129399

Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25105228

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.07.008

1 reference

OpenCitations bibliographic resource ID

21 June 2017

1425099

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1425099

1 reference