(Q38013966)

27 August 2017

title

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease (English)

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neurodevelopmental disorder

27 August 2017

main subject

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8

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27 August 2017

N Naidoo

4

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Constantin Polychronakos

object named as

C Polychronakos

2

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author name string

C S Ku

1

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27 August 2017

E K Tan

3

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27 August 2017

Y Pawitan

5

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27 August 2017

D H Roukos

6

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27 August 2017

M Mort

7

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27 August 2017

language of work or name

English

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publication date

29 May 2012

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27 August 2017

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27 August 2017

volume

18

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27 August 2017

issue

2

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27 August 2017

page(s)

141-153

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https://scigraph.springernature.com/pub.10.1038/mp.2012.58

27 August 2017

exact match

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cites work

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

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Copy number variation: new insights in genome diversity

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

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Rare chromosomal deletions and duplications increase risk of schizophrenia

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Copy-number variations associated with autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

The role of DNA copy number variation in schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Copy-number variants in neurodevelopmental disorders: promises and challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Tourette syndrome is associated with recurrent exonic copy number variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

De novo truncating mutation in Kinesin 17 associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

A mutation screen in patients with Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

A mutation in the thyroid hormone receptor alpha gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Mutations in EZH2 cause Weaver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Large recurrent microdeletions associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Parental origin of sequence variants associated with complex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Computational methods for discovering structural variation with next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Detecting copy number variation with mated short reads

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Genetic overlap between autism, schizophrenia and bipolar disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Copy number and SNP arrays in clinical diagnostics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

Increased exonic de novo mutation rate in individuals with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2012.58

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7 January 2021

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Identifiers

DOI

10.1038/MP.2012.58

1 reference

Dimensions Publication ID

27 August 2017

1000047426

0 references

1 reference