(Q43723388)

26 November 2017

title

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders (English)

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Joubert syndrome and related disorders

26 November 2017

main subject

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1

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26 November 2017

Hirotomo Saitsu

7

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author name string

Yasuko Kobayashi

2

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26 November 2017

Masataka Hisano

3

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26 November 2017

Shuichi Ito

4

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26 November 2017

Hiroshi Doi

5

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26 November 2017

Mitsuko Nakashima

6

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26 November 2017

Naomichi Matsumoto

8

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26 November 2017

Noriko Miyake

9

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26 November 2017

publication date

4 October 2012

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Journal of Human Genetics

26 November 2017

published in

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26 November 2017

volume

58

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26 November 2017

issue

2

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26 November 2017

page(s)

113-115

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https://scigraph.springernature.com/pub.10.1038/jhg.2012.117

26 November 2017

exact match

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cites work

Joubert Syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

Application of next generation sequencing to molecular diagnosis of inherited diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.117

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/JHG.2012.117

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Dimensions Publication ID

26 November 2017

1010120560

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