(Q41709001)

7 October 2017

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies (English)

1 reference

7 October 2017

14

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11 June 2020

Aideen M McInerney-Leo

1

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11 June 2020

Julia Vodopiutz

10

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11 June 2020

Carol Wicking

11

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11 June 2020

Matthew A. Brown

12

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11 June 2020

author name string

J E Harris

2

1 reference

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11 June 2020

P J Leo

3

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11 June 2020

M S Marshall

4

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11 June 2020

B Gardiner

5

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11 June 2020

E Kinning

6

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11 June 2020

H Y Leong

7

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11 June 2020

F McKenzie

8

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11 June 2020

W P Ong

9

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11 June 2020

A Zankl

13

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11 June 2020

publication date

10 December 2014

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7 October 2017

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11 June 2020

volume

88

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11 June 2020

issue

6

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11 June 2020

page(s)

550-557

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Ciliary disorder of the skeleton

11 June 2020

cites work

1 reference

21 January 2018

1 reference

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

21 January 2018

1 reference

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

21 January 2018

1 reference

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

21 January 2018

1 reference

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

21 January 2018

1 reference

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

21 January 2018

1 reference

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

21 January 2018

1 reference

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

21 January 2018

1 reference

CREST maps somatic structural variation in cancer genomes with base-pair resolution.

21 January 2018

1 reference

NEK1 mutations cause short-rib polydactyly syndrome type majewski

21 January 2018

1 reference

Piecing together a ciliome

21 January 2018

1 reference

The ciliopathies: a transitional model into systems biology of human genetic disease

21 January 2018

1 reference

Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor

21 January 2018

1 reference

WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia

21 January 2018

1 reference

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

21 January 2018

1 reference

Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery

21 January 2018

1 reference

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

21 January 2018

1 reference

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

21 January 2018

1 reference

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

21 January 2018

1 reference

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

21 January 2018

1 reference

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

21 January 2018

1 reference

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

21 January 2018

1 reference

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

21 January 2018

1 reference

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome

21 January 2018

1 reference

A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.

21 January 2018

1 reference

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

21 January 2018

1 reference

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

21 January 2018

1 reference

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

21 January 2018

1 reference

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

21 January 2018

1 reference

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

21 January 2018

1 reference

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia

21 January 2018

1 reference

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

21 January 2018

1 reference

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

21 January 2018

1 reference

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).

21 January 2018

1 reference

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

21 January 2018

1 reference

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12550

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25492405%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference