(Q35669713)

26094575

9 August 2017

title

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation (English)

1 reference

9 August 2017

2

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13 June 2020

Stephan J. Sanders

14

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13 June 2020

Michael E. Talkowski

15

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13 June 2020

12

Jennelle C Hodge

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13 June 2020

author name string

Harrison Brand

1

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13 June 2020

Carrie Hanscom

3

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13 June 2020

Jill A Rosenfeld

4

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13 June 2020

Vamsee Pillalamarri

5

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13 June 2020

Matthew R Stone

6

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13 June 2020

Fontina Kelley

7

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13 June 2020

Tamara Mason

8

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13 June 2020

Lauren Margolin

9

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13 June 2020

Stacey Eggert

10

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13 June 2020

Elyse Mitchell

11

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13 June 2020

James F Gusella

13

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13 June 2020

language of work or name

English

0 references

publication date

18 June 2015

1 reference

26094575

American Journal of Human Genetics

9 August 2017

published in

1 reference

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13 June 2020

volume

97

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13 June 2020

issue

1

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13 June 2020

page(s)

170-176

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Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints

13 June 2020

cites work

1 reference

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A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications

12 July 2018

1 reference

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The contribution of de novo coding mutations to autism spectrum disorder

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

Synaptic, transcriptional and chromatin genes disrupted in autism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

12 July 2018

1 reference

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LUMPY: a probabilistic framework for structural variant discovery.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

Design of large-insert jumping libraries for structural variant detection using Illumina sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

The Genotype-Tissue Expression (GTEx) project

12 July 2018

1 reference

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Global increases in both common and rare copy number load associated with autism

12 July 2018

1 reference

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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

12 July 2018

1 reference

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Clinical diagnosis by whole-genome sequencing of a prenatal sample

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

Chromosomal microarray versus karyotyping for prenatal diagnosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

Mapping copy number variation by population-scale genome sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

The Simons Simplex Collection: a resource for identification of autism genetic risk factors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

A microhomology-mediated break-induced replication model for the origin of human copy number variation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

Mechanisms for human genomic rearrangements

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

Strong association of de novo copy number mutations with autism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins

12 July 2018

1 reference

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Occurrence of potential cruciform and H-DNA forming sequences in genomic DNA

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571023

Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis.

12 July 2018

1 reference

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10.1016/J.AJHG.2015.05.012

25 September 2018

Identifiers

DOI

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13 June 2020

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13 June 2020

26094575

1 reference