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  1. Article

    Open Access

    Association of Breastfeeding Duration with Neurodevelopmental Outcomes in an Enriched Familial Likelihood Cohort for Autism Spectrum Disorder

    This study aimed to compare the breastfeeding (BF) duration of the younger siblings of children with ASD in an enriched-likelihood cohort for autism spectrum disorder (ASD), and to determine whether longer BF ...

    Ruchi Punatar, Kathleen Angkustsiri, Laura R. Kair in Child Psychiatry & Human Development (2024)

  2. Article

    Open Access

    Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome

    The chromosome 22q11.2 deletion syndrome (22q11.2DS) is characterized by a well-defined microdeletion and is associated with a wide range of brain-related phenotypes including schizophrenia spectrum disorders ...

    Marwa Zafarullah, Kathleen Angkustsiri, Austin Quach, Seungjun Yeo in Metabolomics (2024)

  3. Article

    Open Access

    Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

    Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic hom...

    Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M. McDonald-McGinn in npj Genomic Medicine (2023)

  4. Article

    Open Access

    Erratum to: Safety and tolerability of Bifidobacterium longum subspecies infantis EVC001 supplementation in healthy term breastfed infants: a phase I clinical trial

    Jennifer T. Smilowitz, Jackelyn Moya, Melissa A. Breck, Chelsea Cook in BMC Pediatrics (2017)

  5. Article

    Open Access

    A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome

    Gamma-aminobutyric acid (GABA) system deficits are integral to the pathophysiologic development of fragile X syndrome (FXS). Ganaxolone, a GABAA receptor positive allosteric modulator, is hypothesized to improve ...

    Andrew Ligsay, Anke Van Dijck, Danh V. Nguyen in Journal of Neurodevelopmental Disorders (2017)

  6. Article

    Open Access

    Safety and tolerability of Bifidobacterium longum subspecies infantis EVC001 supplementation in healthy term breastfed infants: a phase I clinical trial

    Historically, bifidobacteria were the dominant intestinal bacteria in breastfed infants. Still abundant in infants in develo** nations, levels of intestinal bifidobacteria are low among infants in developed ...

    Jennifer T. Smilowitz, Jackelyn Moya, Melissa A. Breck, Chelsea Cook in BMC Pediatrics (2017)

  7. No Access

    Article

    Sociodemographic Disparities in Intervention Service Utilization in Families of Children with Autism Spectrum Disorder

    This study investigates whether sociodemographic factors are associated with utilization of intervention services for children with autism spectrum disorder (ASD) enrolled in the Childhood Autism Risks from Ge...

    Cathina T. Nguyen, Paula Krakowiak in Journal of Autism and Developmental Disord… (2016)

  8. Article

    Open Access

    Map** the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR

    Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common human microdeletion syndrome and is associated with many cognitive, neurological and psychiatric disorders. The majority of individuals have a ...

    Vicki J Hwang, Dianna Maar, John Regan, Kathleen Angkustsiri in BMC Medical Genetics (2014)

  9. No Access

    Article

    Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?

    High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more...

    Kathleen Angkustsiri, Beth Goodlin-Jones in Journal of Autism and Developmental Disord… (2014)