(Q51828800)

13 April 2018

title

A de novo paradigm for mental retardation. (English)

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13 April 2018

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13 April 2018

Joep de Ligt

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13 April 2018

Christian Gilissen

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13 April 2018

Joris A Veltman

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Peer Arts

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Alexander Hoischen

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13 April 2018

Han G Brunner

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13 April 2018

Marloes Steehouwer

Marloes Steehouwer

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13 April 2018

Bregje W van Bon

Bregje W M van Bon

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13 April 2018

Marisol Del Rosario

Marisol del Rosario

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13 April 2018

Nienke Wieskamp

Nienke Wieskamp

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13 April 2018

Bert B A de Vries

Bert B A de Vries

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13 April 2018

author name string

Irene Janssen

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13 April 2018

Petra de Vries

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13 April 2018

Bart van Lier

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13 April 2018

language of work or name

English

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publication date

14 November 2010

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13 April 2018

published in

Nature Genetics

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13 April 2018

volume

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13 April 2018

issue

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13 April 2018

page(s)

1109-1112

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13 April 2018

The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.

cites work

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Resolving the paradox of common, harmful, heritable mental disorders: which evolutionary genetic models work best?

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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

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CIC, a member of a novel subfamily of the HMG-box superfamily, is transiently expressed in developing granule neurons

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Targeted capture and massively parallel sequencing of 12 human exomes

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12 December 2020

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

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12 December 2020

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

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12 December 2020

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

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12 December 2020

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

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DEAF-1 function is essential for the early embryonic development of Drosophila.

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12 December 2020

The role of genetic variation in the causation of mental illness: an evolution-informed framework

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12 December 2020

A general approach to single-nucleotide polymorphism discovery.

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12 December 2020

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

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12 December 2020

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

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12 December 2020

Relationships between the human pepsinogen DNA and protein polymorphisms

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12 December 2020

The Yin and Yang of YY1 in the nervous system

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12 December 2020

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

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12 December 2020

The diploid genome sequence of an Asian individual

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12 December 2020

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

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12 December 2020

Copy-number variations associated with neuropsychiatric conditions

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12 December 2020

Mechanism of positioning the cell nucleus in vertebrate photoreceptors

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12 December 2020

Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic Dynein heavy chain 1 gene

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12 December 2020

Exome sequencing identifies the cause of a mendelian disorder

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12 December 2020

Defective neural tube closure and anteroposterior patterning in mice lacking the LIM protein LMO4 or its interacting partner Deaf-1

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12 December 2020

Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function

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12 December 2020

Modern Applied Statistics with S

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Crossref

https://api.crossref.org/works/10.1038%2FNG.712

7 January 2021

inferred from DOI database lookup

On the Kolmogorov-Smirnov Test for Normality with Mean and Variance Unknown

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.712

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG.712

1 reference

13 April 2018

1 reference

13 April 2018