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Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

Molecular psychiatry, 2011-08, Vol.16 (8), p.867-880

2011

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A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders

Molecular psychiatry, 2011-03, Vol.16 (3), p.238-239

2011

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Novel de novo SHANK3 mutation in autistic patients

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2009-04, Vol.150B (3), p.421-424

2009

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SHANK1 Deletions in Males with Autism Spectrum Disorder

American journal of human genetics, 2012-05, Vol.90 (5), p.879-887

2012

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Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

American journal of human genetics, 2012-04, Vol.90 (4), p.693-700

2012

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Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures

Clinical genetics, 2017-03, Vol.91 (3), p.470-475

2017

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Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

Translational psychiatry, 2011-11, Vol.1 (11), p.e55-e55

2011

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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Genetics in medicine, 2018-07, Vol.20 (7), p.745-753

2018

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

Human genetics, 2011-10, Vol.130 (4), p.563-573

2011

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De novo variants in sporadic cases of childhood onset schizophrenia

European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.944-948

2016

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De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

Biological psychiatry (1969), 2011-05, Vol.69 (9), p.898-901

2011

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Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

American journal of human genetics, 2013-10, Vol.93 (4), p.765-772

2013

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Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

American journal of human genetics, 2010-09, Vol.87 (3), p.316-324

2010

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Mutations in the calcium-related gene IL1RAPL1 are associated with autism

Human molecular genetics, 2008-12, Vol.17 (24), p.3965-3974

2008

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A population genetic approach to mapping neurological disorder genes using deep resequencing

PLoS genetics, 2011-02, Vol.7 (2), p.e1001318-e1001318

2011

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A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review

American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1225-1235

2016

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Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

American journal of human genetics, 2014-06, Vol.94 (6), p.891-897

2014

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Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

European journal of human genetics : EJHG, 2014-06, Vol.22 (6), p.792-800

2014

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Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly

Journal of medical genetics, 2013-11, Vol.50 (11), p.740-744

2013

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A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly

Clinical genetics, 2015-07, Vol.88 (1), p.E1-E4

2015

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Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes

American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2916-2926

2016

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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Genetics in medicine, 2019-04, Vol.21 (4), p.837-849

2019

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Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders

Novel de novo SHANK3 mutation in autistic patients

SHANK1 Deletions in Males with Autism Spectrum Disorder

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

De novo variants in sporadic cases of childhood onset schizophrenia

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

A population genetic approach to mapping neurological disorder genes using deep resequencing

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

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