[HTML][HTML] Whole-genome sequencing in autism identifies hot spots for de novo germline mutation

JJ Michaelson, Y Shi, M Gujral, H Zheng, D Malhotra… - Cell, 2012 - cell.com
De novo mutation plays an important role in autism spectrum disorders (ASDs). Notably,
pathogenic copy number variants (CNVs) are characterized by high mutation rates. We …

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

…, T Pramparo, K Pierce, S Nalabolu, JJ Michaelson… - Nature …, 2017 - nature.com
Although de novo missense mutations have been predicted to account for more cases of
autism than gene-truncating mutations, most research has focused on the latter. We identified …

Detection and interpretation of expression quantitative trait loci (eQTL)

JJ Michaelson, S Loguercio, A Beyer - Methods, 2009 - Elsevier
Analysis of expression quantitative trait loci (eQTL) provides a means for detecting transcriptional
regulatory relationships at a genome-wide scale. Here we explain the eQTL analysis …

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

…, BJ O'Roak, DH Geschwind, JJ Michaelson… - Nature …, 2022 - nature.com
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …

[PDF][PDF] High frequencies of de novo CNVs in bipolar disorder and schizophrenia

D Malhotra, S McCarthy, JJ Michaelson, V Vacic… - Neuron, 2011 - cell.com
While it is known that rare copy-number variants (CNVs) contribute to risk for some neuropsychiatric
disorders, the role of CNVs in bipolar disorder is unclear. Here, we reasoned that a …

A complete mass-spectrometric map of the yeast proteome applied to quantitative trait analysis

…, Z Sun, O Rinner, L Reiter, Q Shen, JJ Michaelson… - Nature, 2013 - nature.com
Experience from different fields of life sciences suggests that accessible, complete reference
maps of the components of the system under study are highly beneficial research tools. …

[PDF][PDF] SPARK: A US cohort of 50,000 families to accelerate autism research

…, JJ Michaelson, J Neely, J Orobio, J Pandey, J Piven… - Neuron, 2018 - cell.com
The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism.org,
a dynamic platform that is engaging thousands of individuals with autism spectrum …

[PDF][PDF] Differential relationship of DNA replication timing to different forms of human mutation and variation

…, P Polak, J Nemesh, JJ Michaelson, J Sebat… - The American Journal of …, 2012 - cell.com
Human genetic variation is distributed nonrandomly across the genome, though the principles
governing its distribution are only partially known. DNA replication creates opportunities …

[HTML][HTML] Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

…, E Trabetti, Z Sedláček, JJ Michaelson… - Nature …, 2020 - nature.com
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …

Genome-wide analyses of individual differences in quantitatively assessed reading-and language-related skills in up to 34,000 people

…, A Martinelli, U Maurer, JJ Michaelson… - Proceedings of the …, 2022 - National Acad Sciences
The use of spoken and written language is a fundamental human capacity. Individual
differences in reading- and language-related skills are influenced by genetic variation, with twin-…