(Q41167834)

27 September 2017

title

Loss-of-function de novo mutations play an important role in severe human neural tube defects (English)

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27 September 2017

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Guy A Rouleau

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27 September 2017

Alexandre Dionne-Laporte

4

object named as

Alexandre Dionne-Laporte

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27 September 2017

Valeria Capra

14

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Dan Spiegelman

5

object named as

Dan Spiegelman

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27 September 2017

12

Jacques L Michaud

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27 September 2017

15

Zoha Kibar

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27 September 2017

10

Christine Massicotte

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27 September 2017

7

Ousmane Diallo

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27 September 2017

9

Elisa Merello

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27 September 2017

11

Valérie Désilets

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27 September 2017

Philippe Lemay

1

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27 September 2017

Marie-Claude Guyot

2

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27 September 2017

Élizabeth Tremblay

3

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27 September 2017

Édouard Henrion

6

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27 September 2017

Patrizia De Marco

8

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27 September 2017

language of work or name

English

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publication date

24 March 2015

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Journal of Medical Genetics

27 September 2017

published in

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27 September 2017

volume

52

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27 September 2017

issue

7

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27 September 2017

page(s)

493-497

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Genetic basis of neural tube defects

27 September 2017

cites work

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

Neural tube defects: recent advances, unsolved questions, and controversies

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

De novo mutations in human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

The contribution of de novo coding mutations to autism spectrum disorder

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

Apical constriction: a cell shape change that can drive morphogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

Shroom, a PDZ domain-containing actin-binding protein, is required for neural tube morphogenesis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

Shroom induces apical constriction and is required for hingepoint formation during neural tube closure

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

A framework for the interpretation of de novo mutation in human disease

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

Understanding the causes and prevention of neural tube defects: Insights from the splotch mouse model.

21 January 2018

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A complete physical contig and partial transcript map of the Williams syndrome critical region.

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

Dynamic protein-protein interaction wiring of the human spliceosome

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

The role of the DEAD-box RNA helicase DDX3 in mRNA metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

Grainyhead genes and mammalian neural tube closure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103027

Refinement of 2q and 7p loci in a large multiplex NTD family

21 January 2018

1 reference

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10.1136/JMEDGENET-2015-103027

21 January 2018

Identifiers

DOI

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27 September 2017

1 reference