Author details

Full Name

Stephan J Sanders

Affiliation

ORCID

Career Start Year

2001

Papers

112

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37034704	Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements.	bioRxiv	2024
37062836	KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.		2023
37595579	Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.	Am J Hum Genet	2023
37745552	Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.	medRxiv	2023
36834916	Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays.	Int J Mol Sci	2023
35292654	Detection of subtle white matter lesions in MRI through texture feature extraction and boundary delineation using an embedded clustering strategy.	Scientific Reports	2022
35573091	High-throughput characterization of the role of non-B DNA motifs on promoter function.	Cell Genom	2022
36323256	Spatiotemporal and genetic regulation of A-to-I editing throughout human brain development.	Cell Rep	2022
35982160	Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.	Nat Genet	2022
36778135	The female protective effect against autism spectrum disorder.	Cell Genom	2022
34315577	Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants.	American Journal of Surgery	2022
34425903	Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain.	Genome Med	2021
34272228	Extrathymic <i>Aire</i>-expressing cells support maternal-fetal tolerance.	Sci Immunol	2021
33570495	Constructing and optimizing 3D atlases from 2D data with application to the developing mouse brain.	Elife	2021
33833052	A model and test for coordinated polygenic epistasis in complex traits.	Proc Natl Acad Sci U S A	2021
33878952	Prenatal exposure to paternal smoking and likelihood for autism spectrum disorder.	Autism	2021
34342000	Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report.	Ann N Y Acad Sci	2021
34382689	Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries.	Journal of Child Psychology and Psychiatry and Allied Disciplines	2021
33157004	Not All Autism Genes Are Created Equal: A Response to Myers etÂ al.	Am J Hum Genet	2020
32268104	Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex.	Cell Rep	2020
31928904	Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders.	Eur J Paediatr Neurol	2020
32331533	Clinical impact of splicing in neurodevelopmental disorders.	Genome Medicine	2020
32090326	Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.	Epilepsia	2020
32981139	Whole-Brain Image Analysis and Anatomical Atlas 3D Generation Using MagellanMapper.	Current Protocols in Neuroscience	2020
33027564	Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.	N Engl J Med	2020
32609087	Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers.	Elife	2020
30827496	Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.	Am J Hum Genet	2019
30420340	Next-Generation Sequencing in Autism Spectrum Disorder.	Cold Spring Harbor Perspectives in Medicine	2019
31230762	The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex.	Neuron	2019
30661751	Predicting Splicing from Primary Sequence with Deep Learning.	Cell	2019
31548702	A framework for the investigation of rare genetic disorders in neuropsychiatry.	Nat Med	2019
27752079	DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/Î²-catenin signaling.	Mol Psychiatry	2018
28861935	Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection.	Autism Res	2018
30545854	Integrative functional genomic analysis of human brain development and neuropsychiatric risks.	Science	2018
30545852	Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.	Science	2018
29656859	Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.	Am J Hum Genet	2018
29700473	An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.	Nat Genet	2018
29691040	Progress in Understanding and Treating SCN2A-Mediated Disorders.	Trends Neurosci	2018
29549319	Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium.	Nat Neurosci	2018
28191890	Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.	Nat Genet	2017
28645357	Appreciating the Population-wide Impact of Copy Number Variants on Cognition.	Biological Psychiatry	2017
28504703	Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.	Nat Genet	2017
28388435	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.	Am J Hum Genet	2017
28991257	Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.	Nat Genet	2017
28472652	De Novo Coding Variants Are Strongly Associated with Tourette Disorder.	Neuron	2017
29100089	De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.	Am J Hum Genet	2017
29184211	Whole genome sequencing in psychiatric disorders: the WGSPD consortium.	Nat Neurosci	2017
28256214	Opposing Effects on Na<sub>V</sub>1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.	Biol Psychiatry	2017
28253736	Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder.	Am J Psychiatry	2017
28132691	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.	Am J Hum Genet	2017