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  1. Article

    Open Access

    Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry

    3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric disorders. However, the full spectrum of behavioral phenotypes associated with 3q2...

    Rebecca M. Pollak, Michael Mortillo… in Journal of Autism and Developmental Disord… (2024)

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  2. No Access

    Article

    Select Early-Life Environmental Exposures and DNA Methylation in the Placenta

    To summarize recent literature relating early-life environmental exposures on DNA methylation in the placenta, to identify how variation in placental methylation is regulated in an exposure-specific manner, an...

    Michael Mortillo, Carmen J. Marsit in Current Environmental Health Reports (2023)

  3. Article

    Open Access

    Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21

    Orofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide and create a significant public health burden. The majority of OFCs are non-syndromic, and the genetic etiology of non-...

    Nandita Mukhopadhyay, Madison Bishop, Michael Mortillo, Pankaj Chopra… in Human Genetics (2020)

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