(Q55692902)

21 July 2018

title

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. (English)

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21 July 2018

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Sensenbrenner syndrome

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Nicola Brunetti-Pierri

3

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21 July 2018

author name string

Carlos A Bacino

1

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21 July 2018

Shweta U Dhar

2

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21 July 2018

Brendan Lee

4

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21 July 2018

Penelope E Bonnen

5

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21 July 2018

language of work or name

English

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publication date

17 September 2012

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21 July 2018

American Journal of Medical Genetics

published in

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21 July 2018

volume

158A

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21 July 2018

issue

11

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21 July 2018

page(s)

2917-2924

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21 July 2018

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

The Sequence Alignment/Map format and SAMtools

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

Fast and accurate short read alignment with Burrows-Wheeler transform

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

Distribution and intensity of constraint in mammalian genomic sequence

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

Low birthweight syndrome with asymmetric skeletal anomalies and persistent proteinuria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

Cranioectodermal dysplasia: a probable ciliopathy.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

Predicting deleterious amino acid substitutions

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000731

Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family

12 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22987818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.35608

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21 July 2018

PMC publication ID

4000731

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21 July 2018

PubMed publication ID

22987818

1 reference

21 July 2018