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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Brain (London, England : 1878), 2015-06, Vol.138 (Pt 6), p.1613-1628

2015

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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

American journal of human genetics, 2014-04, Vol.94 (4), p.634-641

2014

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Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder

Biological psychiatry (1969), 2008-06, Vol.63 (12), p.1111-1117

2008

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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

PLoS genetics, 2013-10, Vol.9 (10), p.e1003823-e1003823

2013

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

American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1523-1530

2013

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Autism as a paradigmatic complex genetic disorder

Annual review of genomics and human genetics, 2004-01, Vol.5 (1), p.379-405

2004

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Association and mutation analyses of 16p11.2 autism candidate genes

PloS one, 2009-02, Vol.4 (2), p.e4582-e4582

2009

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Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

European journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1238-1245

2011

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The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles

Journal of child neurology, 2015-12, Vol.30 (14), p.1947-1953

2015

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

American journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1637-1654

2008

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Recurrent 16p11.2 microdeletions in autism

Human molecular genetics, 2008-02, Vol.17 (4), p.628-638

2008

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Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

Brain (London, England : 1878), 2009-06, Vol.132 (6), p.1563-1576

2009

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Genetics of autism spectrum disorders

Current neurology and neuroscience reports, 2009-05, Vol.9 (3), p.188-197

2009

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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

Nature genetics, 2008-09, Vol.40 (9), p.1065-1067

2008

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Copy number and sequence variants implicate APBA2 as an autism candidate gene

Autism research, 2009-12, Vol.2 (6), p.359-364

2009

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A 2-base pair deletion polymorphism in the partial duplication of the α7 nicotinic acetylcholine gene ( CHRFAM7A ) on chromosome 15q14 is associated with schizophrenia

Brain research, 2009, Vol.1291, p.1-11

2009

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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

European journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.587-593

2014

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Linkage Disequilibrium of the Brain-Derived Neurotrophic Factor Val66Met Polymorphism in Children With a Prepubertal and Early Adolescent Bipolar Disorder Phenotype

The American journal of psychiatry, 2004-09, Vol.161 (9), p.1698-1700

2004

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Polymorphisms at the G72/G30 Gene Locus, on 13q33, Are Associated with Bipolar Disorder in Two Independent Pedigree Series

American journal of human genetics, 2003-05, Vol.72 (5), p.1131-1140

2003

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Duplication 16p11.2 in a child with infantile seizure disorder

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1567-1574

2010

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Large Genomic Duplicons Map to Sites of Instability in the Prader-Willi/Angelman Syndrome Chromosome Region (15q11–q13)

Human molecular genetics, 1999-06, Vol.8 (6), p.1025-1037

1999

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A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

Journal of medical genetics, 2010-02, Vol.47 (2), p.81-90

2010

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Fine mapping supports previous linkage evidence for a bipolar disorder susceptibility locus on 13q32

American journal of medical genetics, 2001-05, Vol.105 (4), p.375-380

2001

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Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q

European journal of pediatrics, 2010-04, Vol.169 (4), p.475-481

2010

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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder

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

Autism as a paradigmatic complex genetic disorder

Association and mutation analyses of 16p11.2 autism candidate genes

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles

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

Recurrent 16p11.2 microdeletions in autism

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

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

Genetics of autism spectrum disorders

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

Copy number and sequence variants implicate APBA2 as an autism candidate gene

A 2-base pair deletion polymorphism in the partial duplication of the α7 nicotinic acetylcholine gene ( CHRFAM7A ) on chromosome 15q14 is associated with schizophrenia

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

Linkage Disequilibrium of the Brain-Derived Neurotrophic Factor Val66Met Polymorphism in Children With a Prepubertal and Early Adolescent Bipolar Disorder Phenotype

Polymorphisms at the G72/G30 Gene Locus, on 13q33, Are Associated with Bipolar Disorder in Two Independent Pedigree Series

Duplication 16p11.2 in a child with infantile seizure disorder

Large Genomic Duplicons Map to Sites of Instability in the Prader-Willi/Angelman Syndrome Chromosome Region (15q11–q13)

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

Fine mapping supports previous linkage evidence for a bipolar disorder susceptibility locus on 13q32

Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q

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