List of works - Stephan J. Sanders

A MARKOV RANDOM FIELD-BASED APPROACH TO CHARACTERIZING HUMAN BRAIN DEVELOPMENT USING SPATIAL-TEMPORAL TRANSCRIPTOME DATA. ⬇️

scientific article

A balanced t(10;15) translocation in a male patient with developmental language disorder.

scientific article published on 29 December 2011

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

scientific article

A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder

scientific article published on 16 May 2012

A framework for the interpretation of de novo mutation in human disease

scientific article (publication date: 3 August 2014)

A framework for the investigation of rare genetic disorders in neuropsychiatry

scientific article published on 23 September 2019

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

scientific article

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

scientific article published on 06 June 2013

Appositions between cocaine and amphetamine-related transcript- and gonadotropin releasing hormone-immunoreactive neurons in the hypothalamus of the Siberian hamster

scientific article published in November 2001

Appreciating the Population-wide Impact of Copy Number Variants on Cognition.

scientific article published in July 2017

Body composition at high altitude: a randomized placebo-controlled trial of dietary carbohydrate supplementation

scientific article published on 30 September 2009

Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection

scientific article published on 31 August 2017

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

scientific article

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

scientific article

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

scientific article published on 9 October 2017

Copy-number disorders are a common cause of congenital kidney malformations

scientific article

DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics

scientific article

DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/β-catenin signaling.

scientific article

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

scientific article

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

scientific article published on December 2015

De novo mutations in histone-modifying genes in congenital heart disease.

scientific article

De novo mutations revealed by whole-exome sequencing are strongly associated with autism ⬇️

scientific article (publication date: 4 April 2012)

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

scientific article

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia ⬇️

scientific article published on November 4, 2010

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia.

scientific article published in January 2011

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

scientific article published on 10 April 2018

Enhancing Clinical Information Display to Improve Patient Encounters: Human-Centered Design and Evaluation of the Parkinson Disease-BRIDGE Platform

scientific article published on 06 May 2022

First glimpses of the neurobiology of autism spectrum disorder.

scientific article

Gene coexpression modules in human cognition

scientific article published in January 2016

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

scientific article

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

scientific article published on 21 March 2016

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

scientific article published on 01 December 2018

Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.

scientific article

Genotype to phenotype relationships in autism spectrum disorders

scientific article

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants

scientific article published in 2024

Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis

scientific article published on October 2003

High rate of disease-related copy number variations in childhood onset schizophrenia.

scientific article published on 21 May 2013

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

scientific article

Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder.

scientific article published on 3 March 2017

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

scientific article

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

scientific article

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

scientific article

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

scientific article published on 01 December 2018

Intellectual disability is associated with increased runs of homozygosity in simplex autism

scientific article published on 03 July 2013

L-histidine decarboxylase and Tourette's syndrome

scientific article

Loss of δ-catenin function in severe autism

scientific article

Medical Expeditions Altitude Symposium, November 30, 2005, St. Catherine's College, Oxford, UK

scientific article published on 01 January 2006

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

scientific article published on 11 November 2014

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

Most genetic risk for autism resides with common variation ⬇️

scientific article

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)

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

scientific article

Next-Generation Sequencing in Autism Spectrum Disorder

scientific article published on 01 August 2019

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

article

Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures

scientific journal article

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

scientific article published on 18 June 2015

Peabody Picture Vocabulary Test: Proxy for Verbal IQ in Genetic Studies of Autism Spectrum Disorder

scientific article published on 28 January 2017

Physiological and psychological illness symptoms at high altitude and their relationship with acute mountain sickness: a prospective cohort study

scientific article published on 19 April 2012

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.

scientific article published on 15 May 2017

Predicting Splicing from Primary Sequence with Deep Learning

scientific article published on 17 January 2019

Progress in Understanding and Treating SCN2A-Mediated Disorders.

scientific article published on 22 April 2018

Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium.

scientific article published on 16 March 2018

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

scientific article published on January 2013

Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism

scientific article published on 14 December 2011

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

scientific article published on 13 February 2017

Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism.

scientific article published on 16 December 2011

Standardizing the next generation of bioinformatics software development with BioHDF (HDF5).

scientific article

Synaptic, transcriptional and chromatin genes disrupted in autism

scientific article

The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex

scientific article published on 20 June 2019

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

scientific article

The contribution of de novo coding mutations to autism spectrum disorder

scientific article

The female protective effect in autism spectrum disorder is not mediated by a single genetic locus.

scientific article published on 13 May 2015

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

scientific article

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts ⬇️

scientific article published on October 9, 2012

Using whole-exome sequencing to identify inherited causes of autism

scientific article

Whole genome sequencing in psychiatric disorders: the WGSPD consortium.

scientific article published in December 2017

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

scientific article

Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways

scientific article published on 29 March 2016

List of works by Stephan J. Sanders

A MARKOV RANDOM FIELD-BASED APPROACH TO CHARACTERIZING HUMAN BRAIN DEVELOPMENT USING SPATIAL-TEMPORAL TRANSCRIPTOME DATA. ⬇️

A balanced t(10;15) translocation in a male patient with developmental language disorder.

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder

A framework for the interpretation of de novo mutation in human disease

A framework for the investigation of rare genetic disorders in neuropsychiatry

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

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

Appositions between cocaine and amphetamine-related transcript- and gonadotropin releasing hormone-immunoreactive neurons in the hypothalamus of the Siberian hamster

Appreciating the Population-wide Impact of Copy Number Variants on Cognition.

Body composition at high altitude: a randomized placebo-controlled trial of dietary carbohydrate supplementation

Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

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

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Copy-number disorders are a common cause of congenital kidney malformations

DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics

DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/β-catenin signaling.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

De novo mutations in histone-modifying genes in congenital heart disease.

De novo mutations revealed by whole-exome sequencing are strongly associated with autism ⬇️

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia ⬇️

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Enhancing Clinical Information Display to Improve Patient Encounters: Human-Centered Design and Evaluation of the Parkinson Disease-BRIDGE Platform

First glimpses of the neurobiology of autism spectrum disorder.

Gene coexpression modules in human cognition

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

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.

Genotype to phenotype relationships in autism spectrum disorders

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants

Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis

High rate of disease-related copy number variations in childhood onset schizophrenia.

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

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

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

Intellectual disability is associated with increased runs of homozygosity in simplex autism

L-histidine decarboxylase and Tourette's syndrome

Loss of δ-catenin function in severe autism

Medical Expeditions Altitude Symposium, November 30, 2005, St. Catherine's College, Oxford, UK

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

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

Most genetic risk for autism resides with common variation ⬇️

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

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

Next-Generation Sequencing in Autism Spectrum Disorder

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

Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

Peabody Picture Vocabulary Test: Proxy for Verbal IQ in Genetic Studies of Autism Spectrum Disorder

Physiological and psychological illness symptoms at high altitude and their relationship with acute mountain sickness: a prospective cohort study

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.

Predicting Splicing from Primary Sequence with Deep Learning

Progress in Understanding and Treating SCN2A-Mediated Disorders.

Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium.

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism.

Standardizing the next generation of bioinformatics software development with BioHDF (HDF5).

Synaptic, transcriptional and chromatin genes disrupted in autism

The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex

The Human Phenotype Ontology in 2024: phenotypes around the world

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

The contribution of de novo coding mutations to autism spectrum disorder

The female protective effect in autism spectrum disorder is not mediated by a single genetic locus.

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts ⬇️