Publications by authors named "Soowhee Kim"

Article Synopsis
  • Whole-genome sequencing (WGS) of Korean autism families reveals that autistic females have a higher genetic burden than males, indicating a higher liability threshold for females compared to males across different ancestries.
  • The study analyzes data from a large sample of Korean individuals and compares it with European ancestry cohorts, finding that sex differences in genetic burden and autism symptoms vary significantly.
  • Results show that while females carry more damaging genetic variants, male siblings of autistic females display more severe social communication issues, highlighting the complexity of autism's genetic factors and the influence of sex on autistic traits.
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Aim: Short tandem repeats (STRs) are repetitive DNA sequences and highly mutable in various human disorders. While the involvement of STRs in various genetic disorders has been extensively studied, their role in autism spectrum disorder (ASD) remains largely unexplored. In this study, we aimed to investigate genetic association of STR expansions with ASD using whole genome sequencing (WGS) and identify risk loci associated with ASD phenotypes.

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Article Synopsis
  • The study aimed to explore the genetic factors influencing early neurodevelopmental outcomes in children with developmental disabilities (DDs).
  • A cohort of 191 children was assessed, with 19 showing diagnostic improvement and 172 not improving by the age of 72-84 months.
  • Findings indicated that the improvement group had fewer risk variants in known DD-related genes, suggesting that genetic factors may play a role in clinical outcomes and could inform future models for analyzing these conditions.
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Ferroptosis, first introduced as a new form of regulated cell death induced by erastin, is accompanied by the accumulation of iron and lipid peroxides, thus it can be inhibited either by iron chelators or by lipophilic antioxidants. In the past decade, multiple studies have introduced the potential importance of ferroptosis in many human diseases, including cancer and neurodegenerative diseases. In this review, we will discuss the genetic association of ferroptosis with neurological disorders and development of the central nervous system.

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