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List of works by Christopher A. Walsh

16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

scientific article published on 18 May 2021

A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome

scientific article published on 01 August 2007

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

scientific article

A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype

scientific article

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

scientific article

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

scientific article

A microRNA negative feedback loop downregulates vesicle transport and inhibits fear memory.

scientific article published on 21 December 2016

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia

scientific article published on 01 December 2007

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly

scientific journal article

ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

scientific article published in 2022

APP gene copy number changes reflect exogenous contamination

scientific article published on 19 August 2020

ASPM is a major determinant of cerebral cortical size

scientific article (publication date: October 2002)

Aberrant Splicing of a Mouse disabled Homolog, mdab1, in the scrambler Mouse ⬇️

scientific article published on August 1, 1997

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

scientific article

Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion

scientific article published in May 2004

Accurate detection of mosaic variants in sequencing data without matched controls

scientific article published on 06 January 2020

Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait

scientific article published on 06 June 2013

Aging and neurodegeneration are associated with increased mutations in single human neurons.

scientific article published on 7 December 2017

Allelic diversity in human developmental neurogenetics: insights into biology and disease

scientific article

An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21

scientific article

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation

scientific article published in July 2006

Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size

scientific article published on 11 April 2018

Association between microdeletion and microduplication at 16p11.2 and autism

scientific article

Author Correction: Innovations present in the primate interneuron repertoire

scientific article published on 24 November 2020

Autism and brain development

scientific article

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

scientific article published on 09 May 2019

Biallelic mutations in human DCC cause developmental split-brain syndrome.

scientific article

Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations

scientific article

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

scientific article published on May 2003

Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males

scientific article published in May 2006

Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex

scientific article

Building a lineage from single cells: genetic techniques for cell lineage tracking

scientific article

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

scientific article

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

scientific article published on 30 September 2012

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans

scientific article

Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits.

scientific article published on 29 January 2016

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors

scientific journal article

Cell lineage analysis in human brain using endogenous retroelements.

scientific article

Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex.

scientific article published on August 2016

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

scientific journal article

Cerebellar ataxia with progressive improvement

scientific article

Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain.

scientific article published in May 2003

Characterization of Rho-GDIgamma and Rho-GDIalpha mRNA in the developing and mature brain with an analysis of mice with targeted deletions of Rho-GDIgamma.

scientific article

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome

scientific article

Clinical genetic testing for patients with autism spectrum disorders

scientific article

Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens".

scientific article published on April 2007

Common genetic variants, acting additively, are a major source of risk for autism

scientific article

Comparative transcriptomics reveals human-specific cortical features

scientific article published on 12 October 2023

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

scientific article

Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt

scientific article

Corrigendum: Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms

scientific article published on 01 February 2020

Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait

scientific article published in February 2003

Cux-1 and Cux-2 control the development of Reelin expressing cortical interneurons

scientific article

Cux-2 controls the proliferation of neuronal intermediate precursors of the cortical subventricular zone.

scientific article published on 21 November 2007

Cux1 and Cux2 regulate dendritic branching, spine morphology, and synapses of the upper layer neurons of the cortex

scientific article

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

scientific article

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

scientific article

Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

scientific article

Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

scientific article

Detecting natural selection by empirical comparison to random regions of the genome

scientific article (publication date: 15 December 2009)

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance

scientific article

Developmental and degenerative features in a complicated spastic paraplegia.

scientific article

Directed migration of neural stem cells to sites of CNS injury by the stromal cell-derived factor 1alpha/CXC chemokine receptor 4 pathway

scientific article

Disease-associated mutations affect GPR56 protein trafficking and cell surface expression.

scientific article

Disorders of Microtubule Function in Neurons: Imaging Correlates

scientific article published on 12 November 2015

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia

scientific article

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

scientific article

Duplication 2p16 is associated with perisylvian polymicrogyria

scientific article published on 29 October 2019

EMX2-independent familial schizencephaly: clinical and genetic analyses

scientific article published on 01 June 2005

Early asymmetry of gene transcription in embryonic human left and right cerebral cortex

scientific article

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

scientific article

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus

scientific article

Evolution of Osteocrin as an activity-regulated factor in the primate brain

scientific journal article

Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning

scientific journal article

Evolutionary Changes in Transcriptional Regulation: Insights into Human Behavior and Neurological Conditions

scientific article published on 01 July 2018

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

scientific article

Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.

scientific article

Expression of Cux-1 and Cux-2 in the subventricular zone and upper layers II-IV of the cerebral cortex

scientific article published in November 2004

Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis

scientific journal article

Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact

scientific article

Filamin B mutations cause chondrocyte defects in skeletal development

scientific article

G protein-coupled receptor-dependent development of human frontal cortex

scientific article

G-protein coupled receptor 56 promotes myoblast fusion through serum response factor- and nuclear factor of activated T-cell-mediated signalling but is not essential for muscle development in vivo

scientific article

GPR56 regulates pial basement membrane integrity and cortical lamination

scientific journal article

Genetic and neuroradiological heterogeneity of double cortex syndrome

article

Genetic basis of developmental malformations of the cerebral cortex

scientific article

Genetic causes of microcephaly and lessons for neuronal development

scientific article published on 04 October 2012

Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth

scientific journal article

Genetic malformations of the human frontal lobe

scientific article

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

scientific article

Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms

scientific article published on 01 October 2019

Genomic and evolutionary analyses of asymmetrically expressed genes in human fetal left and right cerebral cortex

scientific article published in July 2006

Genomic and phenotypic delineation of congenital microcephaly

scientific article published on 14 September 2018

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes

scientific article

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

scientific article published on 24 October 2019

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

scientific article

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

scientific article published on 20 August 2020

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

scientific article

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

scientific article published on 27 February 2017

Identification of neural outgrowth genes using genome-wide RNAi

scientific article

Identifying autism loci and genes by tracing recent shared ancestry

scientific article

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair

scientific article

Impaired proliferation and migration in human Miller-Dieker neural precursors

scientific article published on July 2006

Increased neuronal production, enlarged forebrains and cytoarchitectural distortions in beta-catenin overexpressing transgenic mice

scientific article published in June 2003

Innovations present in the primate interneuron repertoire

scientific article published on 30 September 2020

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

scientific article

Insights into the gyrification of developing ferret brain by magnetic resonance imaging

scientific article

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

scientific article published on 19 June 2017

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

scientific article

Isolation of cerebrospinal fluid from rodent embryos for use with dissected cerebral cortical explants

scientific article published on 11 March 2013

Katanin p80 regulates human cortical development by limiting centriole and cilia number

scientific article published on December 2014

LISsen up! ⬇️

scientific article published on August 1, 1998

Large mosaic copy number variations confer autism risk

scientific article published on 11 January 2021

Linked-read analysis identifies mutations in single-cell DNA-sequencing data

scientific article published on 18 March 2019

Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination

scientific journal article

Location of Periventricular Nodular Heterotopia Is Related to the Malformation Phenotype on MRI ⬇️

scientific article published on October 11, 2012

Loss of PCLO function underlies pontocerebellar hypoplasia type III

scientific article

METTL23, a transcriptional partner of GABPA, is essential for human cognition

scientific article

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

scientific article published on 26 February 2015

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate

scientific article published on 27 October 2016

Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation

scientific article

Mitotic spindle regulation by Nde1 controls cerebral cortical size

scientific journal article

Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.

scientific article published on 12 May 2014

Molecular Basis for Specific Regulation of Neuronal Kinesin-3 Motors by Doublecortin Family Proteins

scientific article

Molecular insights into human brain evolution

scientific article published in Nature

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

scientific article (publication date: June 2011)

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

scientific article

Mutation in PQBP1 is associated with periventricular heterotopia

Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males

scientific article published in January 2006

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

scientific article (publication date: 2004)

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

scientific article

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome

scientific article

Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior

scientific article

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

scientific article

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

scientific article

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome

scientific article

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

scientific article

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

scientific article

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

scientific article

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects

scientific article published on 25 May 2007

Neocortical neuronal arrangement in Miller Dieker syndrome

scientific article published on 3 February 2006

Neurogenesis at the brain-cerebrospinal fluid interface

scientific article published on 21 July 2011

Neuroscience. What are mini-brains?

scientific article published on October 2013

New innovations: therapeutic opportunities for intellectual disabilities

scientific article published on September 2013

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

scientific article published on 13 October 2015

Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder

scientific article published on 10 June 2022

Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia

scientific article

PAK3 mutation in nonsyndromic X-linked mental retardation ⬇️

scientific article published on September 1, 1998

PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly

scientific article published on 14 April 2020

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

scientific article

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

scientific article published on 13 November 2018

PaSD-qc: Quality control for single cell whole-genome sequencing data using power spectral density estimation

PaSD-qc: quality control for single cell whole-genome sequencing data using power spectral density estimation

scientific article published on 25 November 2017

Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain

scientific article published on 10 June 2020

Patterning of the Dorsal Telencephalon and Cerebral Cortex by a Roof Plate-Lhx2 Pathway ⬇️

scientific article published on November 20, 2001

Periventricular nodular heterotopia and Williams syndrome

article

Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene

article

Polymicrogyria is associated with pathogenic variants in PTEN

scientific article published on 22 September 2020

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

scientific article published on 13 February 2020

Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients

scientific article published on 14 November 2013

Protein-truncating mutations in ASPM cause variable reduction in brain size

scientific article published on 21 October 2003

Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

scientific article published on 14 July 2020

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

scientific article published on 18 February 2021

Rainer (Ray) W. Guillery 28 August 1929-7 April 2017.

scientific article

Rainer W. Guillery and the genetic analysis of brain development

scientific article published on 17 September 2018

Rare variant association test in family-based sequencing studies

scientific article published on 26 September 2016

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

scientific article

Recent Advances in Understanding the Genetic Architecture of Autism

scientific article published on 12 May 2020

Recessive gene disruptions in autism spectrum disorder

scientific article published on 17 June 2019

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

scientific article published on 27 February 2020

Reply

scientific article published on 02 January 2014

Resolving rates of mutation in the brain using single-neuron genomics

scientific article published on 22 February 2016

SFI1 promotes centriole duplication by recruiting USP9X to stabilize the microcephaly protein STIL

scientific article published on 13 June 2019

SLC25A22 is a novel gene for migrating partial seizures in infancy.

scientific article

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

scientific article

Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care

scientific article published on 23 December 2012

Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions

scientific article published in 2023

Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment

scientific article published on 20 September 2008

Sequential phases of cortical specification involve Neurogenin-dependent and -independent pathways

scientific journal article

Severe muscle–eye–brain disease is associated with a homozygous mutation in the POMGnT1 gene

article

Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex

scientific article published on 3 March 2015

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain

scientific article

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain

scientific article published on 03 February 2015

Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain

scientific article published on October 2012

Sodium Channel SCN3A (Na1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

scientific article published in December 2017

Somatic activation of AKT3 causes hemispheric developmental brain malformations

scientific article published on April 2012

Somatic genomic changes in single Alzheimer’s disease neurons

scientific article published on 20 April 2022

Somatic mosaicism and neurodevelopmental disease

article

Somatic mutation in single human neurons tracks developmental and transcriptional history

scientific article

Somatic mutation, genomic variation, and neurological disease

scientific article

Somatic mutations in cerebral cortical malformations

scientific article

Somatic mutations in cerebral cortical malformations

scientific article published on 01 November 2014

Systematic widespread clonal organization in cerebral cortex ⬇️

scientific article published on August 1, 1995

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

scientific article

The Epigenetic State of PRDM16-Regulated Enhancers in Radial Glia Controls Cortical Neuron Position

scientific article published on 17 May 2018

The Epigenetic State of PRDM16-Regulated Enhancers in Radial Glia Controls Cortical Neuron Position

scientific article published on 01 July 2018

The Genetics of Primary Microcephaly

scientific article published on 23 May 2018

The apical complex couples cell fate and cell survival to cerebral cortical development

scientific article

The cerebrospinal fluid provides a proliferative niche for neural progenitor cells

scientific article

The diverse genetic landscape of neurodevelopmental disorders.

scientific article published on January 2014

The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate

scientific journal article

The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein

scientific article

The role of RELN in lissencephaly and neuropsychiatric disease

scientific article published in January 2007

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

scientific article

Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations

scientific article published on 01 February 2018

Transcription factor Lmo4 defines the shape of functional areas in developing cortices and regulates sensorimotor control

scientific article published on 16 December 2008

Using whole-exome sequencing to identify inherited causes of autism

scientific article

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.

scientific article

What disorders of cortical development tell us about the cortex: one plus one does not always make two

scientific article

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

scientific article

Widespread Dispersion of Neuronal Clones Across Functional Regions of the Cerebral Cortex ⬇️

scientific article published on January 24, 1992

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