(Q35008852)

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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria

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27 February 2020

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria (English)

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27 February 2020

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cerebellar hypoplasia

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based on heuristic

inferred from title

agenesis of the corpus callosum

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based on heuristic

inferred from title

William B. Dobyns

17

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27 February 2020

Joseph Glessner

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27 February 2020

Kathleen J Millen

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27 February 2020

Hakon Hakonarson

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Hakon Hakonarson

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27 February 2020

Anthony James Barkovich

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27 February 2020

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Samin A Sajan

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27 February 2020

Liliana Fernandez

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27 February 2020

Sahar Esmaeeli Nieh

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27 February 2020

Eric Rider

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27 February 2020

Polina Bukshpun

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27 February 2020

Mari Wakahiro

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27 February 2020

Susan L Christian

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27 February 2020

Jean-Baptiste Rivière

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27 February 2020

Christopher T Sullivan

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27 February 2020

Jyotsna Sudi

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27 February 2020

Michael J Herriges

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27 February 2020

Alexander R Paciorkowski

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27 February 2020

Elliott H Sherr

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27 February 2020

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3 October 2013

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27 February 2020

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27 February 2020

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27 February 2020

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27 February 2020

e1003823

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27 February 2020

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Creative Commons Attribution 4.0 International

3 October 2013

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0 references

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Autism traits in individuals with agenesis of the corpus callosum

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The role of corpus callosum development in functional connectivity and cognitive processing

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Processing speed delays contribute to executive function deficits in individuals with agenesis of the corpus callosum

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Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review

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Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism

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High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.

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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

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

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

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The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

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Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

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8 July 2018

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

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8 July 2018

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications

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Altered white matter integrity and development in children with autism: a combined voxel-based morphometry and diffusion imaging study.

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8 July 2018

Decreased interhemispheric functional connectivity in autism

1 reference

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8 July 2018

De novo rates and selection of large copy number variation

1 reference

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8 July 2018

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

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New technologies provide insights into genetic basis of psychiatric disorders and explain their co-morbidity

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8 July 2018

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion

1 reference

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

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

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A meta-analysis of the corpus callosum in autism

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Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

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FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

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Diffusion abnormalities and reduced volume of the ventral cingulum bundle in agenesis of the corpus callosum: a 3T imaging study.

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A genome-wide investigation of SNPs and CNVs in schizophrenia

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Structural variation of chromosomes in autism spectrum disorder

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

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Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

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Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum

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An MRI study of the corpus callosum in autism

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Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization

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Agenesis of the corpus callosum in California 1983-2003: a population-based study.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003823

21 January 2018

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003823

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Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003823

21 January 2018

Identification of genomic loci contributing to agenesis of the corpus callosum

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003823

21 January 2018

De Novo Interstitial Deletion of 3q22.3-q25.2 Encompassing FOXL2, ATR, ZIC1, and ZIC4 in a Patient With Blepharophimosis/Ptosis/Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Global Developmental Delay

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003823

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Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

1 reference

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21 January 2018

Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003823

21 January 2018

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

1 reference

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Diffusion tensor imaging of the corpus callosum in Autism

1 reference

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1 reference

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White matter fractional anisotrophy differences and correlates of diagnostic symptoms in autism.

1 reference

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Corpus callosum size in autism

1 reference

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1 reference

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1 reference

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1 reference

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21 January 2018

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003823

21 January 2018

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003823

21 January 2018

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

1 reference

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21 January 2018

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003823

21 January 2018

Schizencephaly: heterogeneous etiologies in a population of 4 million California births.

1 reference

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21 January 2018

Cerebellar cleft: a form of prenatal cerebellar disruption

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003823

21 January 2018

Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003823

21 January 2018

Disrupted functional brain networks in autistic toddlers

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003823

21 January 2018

Statistical power analyses using G*Power 3.1: tests for correlation and regression analyses

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003823

21 January 2018

De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003823

21 January 2018

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27 February 2020

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27 February 2020

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27 February 2020

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