Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

Deletion 16p13.11 uncoversNDE1mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

(2013) Alex R. Paciorkowski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel inter-hemispheric white matter connectivity in the BTBR mouse model of autism

(2013) V.M. Miller et al.   BRAIN RESEARCH

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

(2013) Delphine Rocas et al.   European Journal of Medical Genetics

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

(2012) Emilia Cirillo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

(2012) Kimberly A. Aldinger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2012) Maarten J. Van Den Bossche et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

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

(2012) Gaetano Terrone et al.   European Journal of Medical Genetics

Processing Speed Delays Contribute to Executive Function Deficits in Individuals with Agenesis of the Corpus Callosum

(2012) Elysa J. Marco et al.   JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY

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

(2012) Marcella Zollino et al.   NATURE GENETICS

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

(2012) David A Koolen et al.   NATURE GENETICS

FLNA genomic rearrangements cause periventricular nodular heterotopia

(2012) K. R. Clapham et al.   NEUROLOGY

The Role of Corpus Callosum Development in Functional Connectivity and Cognitive Processing

(2012) Leighton B. N. Hinkley et al.   PLoS One

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

(2011) Mehmet Bakircioglu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

(2011) Fowzan S. Alkuraya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Alexandros Sotiriadis et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications

(2011) Douglas F. Levinson et al.   AMERICAN JOURNAL OF PSYCHIATRY

Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism

(2011) Thomas V. Fernandez et al.   BIOLOGICAL PSYCHIATRY

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

(2011) Blake C. Ballif et al.   HUMAN GENETICS

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

(2011) Roxana Kariminejad et al.   HUMAN MUTATION

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

(2011) Byung Chan Lim et al.   JOURNAL OF CHILD NEUROLOGY

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

(2011) Vladimir Vacic et al.   NATURE

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

(2011) Dan Levy et al.   NEURON

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

(2011) Stephan J. Sanders et al.   NEURON

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

(2010) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of genomic loci contributing to agenesis of the corpus callosum

(2010) Mary C. O'Driscoll et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) Paola Mengotti et al.   BRAIN RESEARCH BULLETIN

Decreased Interhemispheric Functional Connectivity in Autism

(2010) J. S. Anderson et al.   CEREBRAL CORTEX

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

(2010) Erica H. Gerkes et al.   European Journal of Medical Genetics

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

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

(2010) Dalila Pinto et al.   NATURE

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

(2009) A.L. Mosca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diffusion Abnormalities and Reduced Volume of the Ventral Cingulum Bundle in Agenesis of the Corpus Callosum: A 3T Imaging Study

(2009) Y. Nakata et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY

A Meta-Analysis of the Corpus Callosum in Autism

(2009) Thomas W. Frazier et al.   BIOLOGICAL PSYCHIATRY

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

(2009) C. Cheung et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Diffusion Tensor Imaging Findings in School-Aged Autistic Children

(2009) Adriana Rocha Brito et al.   JOURNAL OF NEUROIMAGING

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

(2009) Kimberly A Aldinger et al.   NATURE GENETICS

A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

(2009) Anna C. Need et al.   PLoS Genetics

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) Hannah C. Glass et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2008) William B. Dobyns et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cerebellar Cleft: A Form of Prenatal Cerebellar Disruption

(2008) A. Poretti et al.   NEUROPEDIATRICS

Corpus Callosum Agenesis in Trisomy 8p11.23 and Monosomy 4q34 Because of Maternal Translocation

(2008) Uğur Işık et al.   PEDIATRIC NEUROLOGY