A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease (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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Variation in genome-wide mutation rates within and between human families

27 August 2017

cites work

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On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

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SIFT: Predicting amino acid changes that affect protein function

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Prediction of deleterious human alleles

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

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De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

21 January 2018

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Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

21 January 2018

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Strong association of de novo copy number mutations with autism

21 January 2018

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Strong association of de novo copy number mutations with sporadic schizophrenia

21 January 2018

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

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A de novo paradigm for mental retardation.

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Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly

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De novo assembly of short sequence reads

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De novo assembly of human genomes with massively parallel short read sequencing

21 January 2018

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State of the art de novo assembly of human genomes from massively parallel sequencing data

21 January 2018

1 reference

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

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Exome sequencing supports a de novo mutational paradigm for schizophrenia.

21 January 2018

1 reference

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

21 January 2018

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Methods and strategies for analyzing copy number variation using DNA microarrays

21 January 2018

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Genotyping technologies for genetic research

21 January 2018

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Human copy number variation and complex genetic disease

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The pursuit of genome-wide association studies: where are we now?

21 January 2018

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High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

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PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

21 January 2018

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Large-scale copy number polymorphism in the human genome

21 January 2018

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Detection of large-scale variation in the human genome

21 January 2018

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Copy number variation: new insights in genome diversity

21 January 2018

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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

21 January 2018

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

21 January 2018

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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

21 January 2018

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Microdeletions of 3q29 confer high risk for schizophrenia

21 January 2018

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Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

21 January 2018

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Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder

21 January 2018

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Next-generation DNA sequencing

21 January 2018

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Sequencing technologies - the next generation

21 January 2018

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Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

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Accurate whole human genome sequencing using reversible terminator chemistry

21 January 2018

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The diploid genome sequence of an Asian individual

21 January 2018

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Performance comparison of exome DNA sequencing technologies

21 January 2018

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A comparative analysis of exome capture

21 January 2018

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Comparison of solution-based exome capture methods for next generation sequencing

21 January 2018

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Comprehensive comparison of three commercial human whole-exome capture platforms

21 January 2018

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A window into third-generation sequencing

21 January 2018

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Rate, molecular spectrum, and consequences of human mutation

21 January 2018

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De novo rates and selection of large copy number variation

21 January 2018

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A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

Rett syndrome: from the gene to the disease

21 January 2018

1 reference

A de novo X;3 translocation in Rett syndrome

21 January 2018

1 reference

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

21 January 2018

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Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

21 January 2018

1 reference

Rett syndrome: a surprising result of mutation in MECP2.

21 January 2018

1 reference

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

21 January 2018

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Functional impact of global rare copy number variation in autism spectrum disorders

21 January 2018

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Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

21 January 2018

1 reference

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

21 January 2018

1 reference

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

21 January 2018

1 reference

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

21 January 2018

1 reference

Copy-number variations associated with neuropsychiatric conditions

21 January 2018

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Copy-number variations associated with autism spectrum disorder

21 January 2018

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The role of DNA copy number variation in schizophrenia.

21 January 2018

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Copy-number variants in neurodevelopmental disorders: promises and challenges

21 January 2018

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

21 January 2018

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

21 January 2018

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Tourette syndrome is associated with recurrent exonic copy number variants

21 January 2018

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

21 January 2018

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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

21 January 2018

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

21 January 2018

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De novo truncating mutation in Kinesin 17 associated with schizophrenia

21 January 2018

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De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

21 January 2018

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

21 January 2018

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

21 January 2018

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A mutation screen in patients with Kabuki syndrome

21 January 2018

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MLL2 mutation spectrum in 45 patients with Kabuki syndrome

21 January 2018

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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

A mutation in the thyroid hormone receptor alpha gene.

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Mutations in EZH2 cause Weaver syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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Large recurrent microdeletions associated with schizophrenia

21 January 2018

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Parental origin of sequence variants associated with complex diseases

21 January 2018

1 reference

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

21 January 2018

1 reference

Computational methods for discovering structural variation with next-generation sequencing

21 January 2018

1 reference

Detecting copy number variation with mated short reads

21 January 2018

1 reference

Genetic overlap between autism, schizophrenia and bipolar disorder

21 January 2018

1 reference

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

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Copy number and SNP arrays in clinical diagnostics

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Increased exonic de novo mutation rate in individuals with schizophrenia

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/MP.2012.58

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Dimensions Publication ID

27 August 2017

1000047426

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