List of works - Christian Marshall

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

scientific article published in January 2018

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A discovery resource of rare copy number variations in individuals with autism spectrum disorder

scientific article

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.

scientific article published on 16 December 2013

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A genotype resource for postmortem brain samples from the Autism Tissue Program

scientific article

A large data resource of genomic copy number variation across neurodevelopmental disorders

scientific article published on 07 October 2019

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder

scientific article

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

scientific article published on 14 October 2011

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015

scientific article

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

scientific article published on 23 October 2020

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

scientific article

Clinically relevant copy number variations detected in cerebral palsy

scientific article

Contribution of SHANK3 mutations to autism spectrum disorder

scientific article

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

scientific article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets

scientific article published on 29 May 2014

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

scientific article

Copy-number variation in control population cohorts

scientific article published on October 2007

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

scientific article

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

scientific article published on 11 July 2013

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

scientific article

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

scientific article published on 30 December 2013

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

scientific article published on 17 January 2013

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

scientific article published on 15 July 2010

Gene and miRNA expression profiles in autism spectrum disorders

scientific article published on 21 September 2010

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

scientific article published on 03 February 2020

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.

scientific article published on February 2012

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

scientific article

Genome-wide characteristics of de novo mutations in autism

scientific article published on August 2016

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

scientific article published on December 2012

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

scientific article

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

scientific article published on 19 October 2016

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

scientific article

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

scientific article published on July 2016

Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.

scientific article published on 17 August 2016

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

scientific article published on 23 May 2015

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

scientific article published on September 2015

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

scientific article

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism

scientific article

Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia

scientific article (publication date: 2014)

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

scientific article published on 27 June 2013

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

scientific article published on 16 February 2018

Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy

scientific article

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

scientific article published on 28 July 2017

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

scientific article

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

scientific article

Rare deletions at the neurexin 3 locus in autism spectrum disorder

scientific article

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

scientific article published on 7 February 2013

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

scientific article

SHANK1 Deletions in Males with Autism Spectrum Disorder

scientific article

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

scientific article published on 16 February 2020

Structural variation of chromosomes in autism spectrum disorder

scientific article

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

scientific article published on 18 October 2016

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

scientific article published on 29 November 2014

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

scientific article

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

scientific article published on 6 March 2017

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

scientific article

Whole-genome sequencing of quartet families with autism spectrum disorder

scientific article published on 26 January 2015

Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease

scientific article

List of works by Christian Marshall

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A discovery resource of rare copy number variations in individuals with autism spectrum disorder

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.

A genome-wide scan for common alleles affecting risk for autism

A genotype resource for postmortem brain samples from the Autism Tissue Program

A large data resource of genomic copy number variation across neurodevelopmental disorders

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

Clinically relevant copy number variations detected in cerebral palsy

Contribution of SHANK3 mutations to autism spectrum disorder

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

Copy-number variation in control population cohorts

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

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

Gene and miRNA expression profiles in autism spectrum disorders

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

Genome-wide characteristics of de novo mutations in autism

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism

Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

Rare deletions at the neurexin 3 locus in autism spectrum disorder

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

SHANK1 Deletions in Males with Autism Spectrum Disorder

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

Structural variation of chromosomes in autism spectrum disorder

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

Whole-genome sequencing of quartet families with autism spectrum disorder

Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease