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Ivan Iossifov

Cold Spring Harbor Laboratory

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Rates of contributory de novo mutation in high and low-risk autism families.

2021
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N-terminal variant Asp14Asn of the human p70 S6 Kinase 1 enhances translational signaling causing different effects in developing and mature neuronal cells.

2020 Neurobiology of Learning and Memory
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De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

2019 European Journal of Human Genetics
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Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

2018 Nature Genetics
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Damaging de novo mutations diminish motor skills in children on the autism spectrum

2018 Proceedings of the National Academy of Sciences of the United States of America
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Measuring shared variants in cohorts of discordant siblings with applications to autism

2017 Proceedings of the National Academy of Sciences of the United States of America
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Modified penetrance of coding variants by cis-regulatory variation shapes human traits

2017 bioRxiv
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Discovery and reporting of clinically-relevant germline variants in advanced cancer patients assessed using whole-exome sequencing

2017 bioRxiv
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Damaging Mutations are Associated with Diminished Motor Skills and IQ in Children on the Autism Spectrum

2017 bioRxiv
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De novo indels within introns contribute to ASD incidence

2017 bioRxiv
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