(Q38073318)

28 August 2017

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title

Child development and structural variation in the human genome (English)

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28 August 2017

Rajini Haraksingh

2

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Alexej Abyzov

object named as

Alexej Abyzov

4

0 references

Mark Bender Gerstein

5

object named as

Mark Gerstein

1 reference

28 August 2017

Ying Zhang

1

1 reference

28 August 2017

Fabian Grubert

3

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28 August 2017

Sherman Weissman

6

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28 August 2017

Alexander E Urban

7

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28 August 2017

13 January 2013

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28 August 2017

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28 August 2017

84

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28 August 2017

1

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28 August 2017

34-48

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A map of human genome variation from population-scale sequencing

28 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

AGE: defining breakpoints of genomic structural variants at single-nucleotide resolution, through optimal alignments with gap excision

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Genome structural variation discovery and genotyping

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Personalized copy number and segmental duplication maps using next-generation sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Pervasive developmental disorders in preschool children: confirmation of high prevalence

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

High-resolution mapping of copy-number alterations with massively parallel sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Origins and functional impact of copy number variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Rare genomic deletions and duplications and their role in neurodevelopmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Human genome sequencing in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Detection of large-scale variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

A haplotype map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Natural mutagenesis of human genomes by endogenous retrotransposons

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Population analysis of large copy number variants and hotspots of human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Variation in transcription factor binding among humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Mapping and sequencing of structural variation from eight human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Genetics of autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

The current excitement about copy-number variation: how it relates to gene duplications and protein families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Paired-end mapping reveals extensive structural variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Detecting and annotating genetic variations using the HugeSeq pipeline

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Initial sequencing and analysis of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Current developments in the genetics of autism: from phenome to genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Genomic disorders ten years on.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

The evolution of human segmental duplications and the core duplicon hypothesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Integrated detection and population-genetic analysis of SNPs and copy number variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Microduplications of 16p11.2 are associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Duplication hotspots, rare genomic disorders, and common disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Copy number variants at Williams-Beuren syndrome 7q11.23 region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

An initial map of insertion and deletion (INDEL) variation in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Mapping copy number variation by population-scale genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

The Epidemiology of Autism Spectrum Disorders *

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Diet and the evolution of human amylase gene copy number variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Global variation in copy number in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Recombination centres and the orchestration of V(D)J recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Dosage sensitivity shapes the evolution of copy-number varied regions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Large-scale copy number polymorphism in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Velo-cardio-facial syndrome: 30 Years of study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Structural variation in the human genome and its role in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Brain development and the nature versus nurture debate

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Using genetic variation to study human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Fine-scale structural variation of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Autism as a paradigmatic complex genetic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Proline affects brain function in 22q11DS children with the low activity COMT 158 allele

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Complex human chromosomal and genomic rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Reelin gene alleles and susceptibility to autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

Identification of genomic indels and structural variations using split reads

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FCDEV.12051

21 January 2018

Identifiers

DOI

10.1111/CDEV.12051

1 reference

28 August 2017

1 reference