Area of research
Genetics · Cognitive Neuroscience
Research interest
Professor Scherer’s research includes understanding the composition of the genome for studies of genetic disease built upon three themes: (1) gene copy number- and structural- variation (CNV or SV) in the human genome, (2) determining the genetic architecture underlying autism spectrum disorders (ASD), and (3) developing technology, infrastructure, and capacity for translational genomic research. Professor Scherer’s research includes understanding the composition of the genome for studies of genetic disease built upon three themes: (1) gene copy number- and structural- variation (CNV or SV) in the human genome, (2) determining the genetic architecture underlying autism spectrum disorders (ASD), and (3) developing technology, infrastructure, and capacity for translational genomic research.
Mapping the genetic landscape across 14 psychiatric disorders.
Genome-Wide Significance Reconsidered: Low-Frequency Variants and Regulatory Networks in Autism
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome
Characterizing Features of the Genetic Architecture Underlying Autism from a multi-ancestry Perspective
Mapping the inter- and intra-genic codon-usage landscape in <i>Homo sapiens</i>.
Flexible and rapid validation of structural variation using adaptive sampling.
Clinically significant DNA variation from the GENCOV and HostSeq COVID-19 genome sequencing studies.
Deleterious coding variation associated with autism is shared across ancestries
An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.
Leveraging transdiagnostic genetic liability to psychiatric disorders to dissect clinical outcomes of anorexia nervosa.
The Revised Diploid Genome Sequence of an Individual Human: An Optimized Assembly Workflow for Scaling of near Telomere-to-Telomere Assemblies
Chromosome X-wide common variant association study in autism spectrum disorder.
Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications.
Contribution of autosomal rare and de novo variants to sex differences in autism.
Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects
Genome-wide association studies of binge-eating behaviour and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.
Assigning Targetable Molecular Pathways to Transdiagnostic Subgroups Across Autism and Related Neurodevelopmental Disorders
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.
Defining suicidality phenotypes for genetic studies: perspectives of the Psychiatric Genomics Consortium Suicide Working Group.
Rare variants in <i>BMAL1</i> are associated with a neurodevelopmental syndrome.
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.
Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing.
Evaluating the impact of compound heterozygosity involving microdeletions and sequence-level variants: findings in autism
UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature.
Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes.
Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.
On the analysis of genetic association with long-read sequencing data.
Diverse short tandem repeat sequences influence gene regulation in human populations.