[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 …
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 …
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 …
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 …
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 …
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
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. …
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 …
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 …
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 …
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-…
differences in reading- and language-related skills are influenced by genetic variation, with twin-…