Genome sequencing identifies major causes of severe intellectual disability (Q34422838)

2 August 2017

title

Genome sequencing identifies major causes of severe intellectual disability (English)

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disability affecting intellectual abilities

2 August 2017

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Joris A Veltman

21

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Annette Schenck

Annette Schenck

10

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Christian Gilissen

Christian Gilissen

1

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Alexander Hoischen

9

Alexander Hoischen

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2 August 2017

19

Han G Brunner

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2 August 2017

Marjolein H Willemsen

6

Marjolein H Willemsen

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16

Helger G Yntema

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2

Jayne Y Hehir-Kwa

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15

Rolph Pfundt

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2 August 2017

18

Tjitske Kleefstra

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2 August 2017

20

Lisenka E L M Vissers

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2 August 2017

7

Michael Kwint

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5

Bregje W M van Bon

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2 August 2017

4

Maartje van de Vorst

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2 August 2017

17

Bert B A de Vries

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2 August 2017

3

Djie Tjwan Thung

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2 August 2017

8

Irene M Janssen

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2 August 2017

Richard Leach

11

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Robert Klein

12

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2 August 2017

Rick Tearle

13

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2 August 2017

Tan Bo

14

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2 August 2017

publication date

4 June 2014

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2 August 2017

language of work or name

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2 August 2017

volume

511

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2 August 2017

issue

7509

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2 August 2017

page(s)

344-347

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Genic intolerance to functional variation and the interpretation of personal genomes

2 August 2017

cites work

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12 December 2020

De novo mutations in epileptic encephalopathies

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12 December 2020

Pathogenic or not? Assessing the clinical relevance of copy number variants

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12 December 2020

Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads

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12 December 2020

A systematic survey of loss-of-function variants in human protein-coding genes

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12 December 2020

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

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12 December 2020

Clinical significance of de novo and inherited copy-number variation

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12 December 2020

Diagnostic genome profiling in mental retardation

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12 December 2020

Rate of de novo mutations and the importance of father's age to disease risk

1 reference

12 December 2020

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

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12 December 2020

Increased exonic de novo mutation rate in individuals with schizophrenia

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12 December 2020

A genomic view of mosaicism and human disease

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12 December 2020

An integrated encyclopedia of DNA elements in the human genome

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12 December 2020

Genetics of Early Onset Cognitive Impairment

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12 December 2020

A de novo paradigm for mental retardation

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12 December 2020

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

1 reference

12 December 2020

Diagnostic exome sequencing in persons with severe intellectual disability

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12 December 2020

Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time

1 reference

12 December 2020

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

1 reference

12 December 2020

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia

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12 December 2020

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

1 reference

12 December 2020

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network

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12 December 2020

Genomics, Intellectual Disability, and Autism

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12 December 2020

De Novo Gene Disruptions in Children on the Autistic Spectrum

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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

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

1 reference

12 December 2020

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

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12 December 2020

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

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12 December 2020

Patterns and rates of exonic de novo mutations in autism spectrum disorders

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12 December 2020

Identifiers

DOI

10.1038/NATURE13394

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2 August 2017

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