Selected papers

2026   Science Advances · Language

Ancient regulatory evolution shapes individual language abilities in present-day humans

A small, ancient class of regulatory DNA carries an outsized share of the common genetic signal for language ability.

Casten LG, Koomar T, Thomas TR, Koh JY, Hofammann D, Thenuwara S, … Michaelson JJ, et al.

2026   Preprint · Human migration

Migration genetics link excitatory neurons to ancient selection and economic growth

A genome-wide study of migration distance in 250,000 people finds 20 associated regions, with a polygenic signal traceable in ancient DNA spanning 10,000 years.

Casten LG, Tener A, Elsadany M, Yang JS, Strang JF, Michaelson JJ

2025   Preprint · Autism

Genomic dissection of sleep archetypes in a large autism cohort

Using reports from 5,686 SPARK families, we describe distinct patterns of poor sleep in autism and their genetic underpinnings.

Brueggeman L, Pottschmidt N, Koomar T, Thomas TR, Michaelson JJ

2024   Preprint · Language

Lingo: an automated, web-based deep phenotyping platform for language ability

Lingo is a flexible online battery of language and nonverbal tasks for measuring language ability at scale.

Casten LG, Koomar T, Elsadany M, Hsu Y, Kelly E, Snyder G, … Michaelson JJ, et al.

2024   Nature Communications · Learning and memory

Using deep learning to quantify neuronal activation from single-cell and spatial transcriptomic data

A deep-learning model estimates how active a neuron was from its gene expression alone.

Bahl E, Chatterjee S, Mukherjee U, Elsadany M, Vanrobaeys Y, Lin LC, … Michaelson JJ, et al.

2024   Biological Psychiatry Global Open Science · Sex and gender

Polygenic Scores Clarify the Relationship Between Mental Health and Gender Diversity

Tests 16 polygenic scores in two SPARK samples to ask whether shared genetics explains higher rates of mental health problems among gender-diverse people.

Thomas TR, Tener AJ, Pearlman AM, Imborek KL, Yang JS, Strang JF, … Michaelson JJ, et al.

2023   Neurobiology of Learning and Memory · Neurodevelopment and talent

The combination of autism and exceptional cognitive ability is associated with suicidal ideation

Among autistic youth, exceptional cognitive ability is associated with higher rates of suicidal ideation.

Casten LG, Thomas TR, Doobay AF, Foley-Nicpon M, Kramer S, Nickl-Jockschat T, … Michaelson JJ, et al.

2022   Translational Psychiatry · Autism

Clinical autism subscales have common genetic liabilities that are heritable, pleiotropic, and generalizable to the general population

Severity in specific autism symptom domains is heritable, shares genetics with other psychiatric traits, and is detectable in the general population.

Thomas TR, Koomar T, Casten LG, Tener AJ, Bahl E, Michaelson JJ

2022   Nature Genetics · Autism

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Rare new and inherited coding variants in 42,607 autism cases, most recruited online by SPARK, implicate 60 genes, five of them new.

Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, … Michaelson JJ, et al.

2021   Frontiers in Psychiatry · Autism

Estimating the Prevalence and Genetic Risk Mechanisms of ARFID in a Large Autism Cohort

The first genetically informed study of avoidant/restrictive food intake disorder (ARFID), with a prevalence estimate in a large autism cohort.

Koomar T, Thomas TR, Pottschmidt NR, Lutter M, Michaelson JJ

2021   Molecular Autism · Sex and gender

Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts

Two proxies of androgen exposure predict social functioning difficulties across three neurodevelopmental conditions.

McKenna BG, Huang Y, Vervier K, Hofammann D, Cafferata M, Al-Momani S, … Michaelson JJ, et al.

2020   Scientific Reports · Autism

Forecasting risk gene discovery in autism with machine learning and genome-scale data

forecASD, a machine-learning model, ranks genes by how likely they are to be autism risk genes.

Brueggeman L, Koomar T, Michaelson JJ

2020   Current psychiatry reports · Language

Genetic Intersections of Language and Neuropsychiatric Conditions

A review of the behavioral, neural, and genetic overlap between language and five major neuropsychiatric conditions.

Koomar T, Michaelson JJ

2020   PloS one · Sex and gender

Community attitudes on genetic research of gender identity, sexual orientation, and mental health

A community survey on attitudes toward genetic research on gender identity, sexual orientation, and mental health.

Thomas TR, Hofammann D, McKenna BG, I. R. van der Miesen A, Stokes MA, Daniolos P, … Michaelson JJ, et al.

2019   Annals of Clinical and Translational Neurology · Psychiatric genetics

Drug repositioning in epilepsy reveals novel antiseizure candidates

Gene expression in tissue from epilepsy surgery points to FDA-approved drugs as antiseizure candidates.

Brueggeman L, Sturgeon ML, Martin RM, Grossbach AJ, Nagahama Y, Zhang A, … Michaelson JJ, et al.

2018   Cold Spring Harbor Molecular Case Studies · Autism

Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk

Whole-genome sequencing of identical twins with autism and intellectual disability points to risk spread across many genetic variants.

McKenna B, Koomar T, Vervier K, Kremsreiter J, Michaelson JJ

2018   Bioinformatics · Methods and software

TiSAn: Estimating tissue-specific effects of coding and non-coding variants

TiSAn scores how relevant each position in the genome is to a given tissue, to help interpret coding and non-coding variants.

Vervier K, Michaelson JJ

2017   Biological Psychiatry · Learning and memory

Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of Neuropsychiatric Risk Genes

Maps the genes regulated by NPAS1 and NPAS3, two proteins linked to mental illness, in the mouse hippocampus.

Michaelson JJ, Shin MK, Koh JY, Brueggeman L, Zhang A, Katzman A, et al.

2017   PLoS ONE · Psychiatric genetics

Novel and ultra-rare damaging variants in neuropeptide signaling are associated with disordered eating behaviors

Exome sequencing of 93 people with eating disorders finds an excess of rare damaging variants in neuropeptide signaling genes.

Lutter M, Bahl E, Hannah C, Hofammann D, Acevedo S, Cui H, … Michaelson JJ, et al.

2017   Neurotherapeutics · Psychiatric genetics

Genetic Approaches to Understanding Psychiatric Disease

A primer on how human genetics reveals the biology of psychiatric conditions.

Michaelson JJ

2017   Bioinformatics · Methods and software

cerebroViz: An R package for anatomical visualization of spatiotemporal brain data

An R package that maps brain-region data onto diagrams of the human brain.

Bahl E, Koomar T, Michaelson JJ

2016   Scientific Reports · Methods and software

SLINGER: Large-scale learning for predicting gene expression

Predicts gene expression from genetic variants both near and far from each gene.

Vervier K, Michaelson JJ