ASHG 2021 Virtual Meeting: Presentations by SFARI Investigators and Collaborators

A number of SFARI Investigators, collaborators and Simons Foundation scientists will present their latest research findings at the American Society of Human Genetics (ASHG) 2021 Virtual Meeting, which will be held October 18–22. A professional development and industry forum will be held before the official meeting begins (October 12–14).

A selection of these presentations is highlighted below.

Poster presentation:
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder^*1

Poster presentation:
De novo heterozygous POLR2A variant associates with autism spectrum disorder with epilepsy, hypotonia, strabismus and self-injurious behaviors

Poster presentation:
Sex bias in neurodevelopmental defects due to differential effects of gene dosage and genetic interactions

Poster presentation:
Delineation of a neurodevelopmental syndrome caused by PAX5 haploinsufficiency

Poster presentation:
Inferring negative natural selection at short tandem repeats in the human genome

Poster presentation:
Identification of X-linked missense variants in TAF1 in 4 unrelated families with autism spectrum disorder (ASD)

Poster presentation:
Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases^*1

Poster presentation:
A repetitive request: for the genome wide study of short tandem repeats in human phenotypic variation

Poster presentation:
Population level study of tandem repeats using an ensemble call-set

Poster presentation:
Rapid identification of genetic factors contributing to autism spectrum development with disproportionate megalencephaly in a model system^*1

Poster presentation:
The phenotypic trajectory of 16p12.1 deletion is determined by family history of disease

Poster presentation:
Building a predictive matrix model for autism genotype-phenotype associations^*3

Poster presentation:
An IQ-matched genetic comparison between cases with ASD and typically-developing controls^*2

Poster presentation:
Assortative mating drives pathogenicity of variably expressive CNVs^*1,3

Poster presentation:
Kmt5b is highly expressed in the developing brain and may regulate other known autism risk genes and processes

Poster presentation:
Dimensional traits in genetic research of autism show greater heritability and generalization than case-control traits^*2

Poster presentation:
Patterns of gene expression variation in large families carrying developmental delay-associated 16p12.1 deletion

Poster presentation:
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Poster presentation:
Integrated gene analyses of de novo mutations from 46,612 trios with autism and developmental delay^*2

Poster presentation:
Common and rare genetic risk for autism have opposing effects on cognition at autism-associated genes^*1,2

Platform presentation:
Biallelic noncoding regulatory mutations in autism spectrum disorder

Platform presentation:
Computational and functional characterization of the hs737 enhancer in autism^*1

Platform presentation:
Classes of rare and common variants differentially contribute to variably expressive phenotypes in complex disorders

Platform presentation:
CAPRIN1 haploinsufficiency causes a novel neurodevelopmental disorder associated with morphological and functional impairment in hiPSCs-derived cortical neurons

Plenary presentation:
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

Platform presentation:
Large-scale, multi-ethnic resource of gene, isoform, and splicing regulation in the developing human brain

Invited session:
N-of-1 precision medicine in the era of antisense oligonucleotide therapeutics

Invited session presentation:
Early forays in individualized genomic medicine, the milasen example & beyond

Platform presentation:
Quantifying the developmental trajectory of autism associated brain overgrowth using 3D cellular resolution imaging

Platform presentation:
Genomic architecture of autism spectrum disorder from comprehensive whole-genome sequence annotation

^* Uses data and/or resources from ¹ Simons Simplex Collection, ² SPARK, ³ Simons Searchlight.