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Publications by authors named "Julie Neidich"

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Synopsis of recent research by authors named "Julie Neidich"

  • - Julie Neidich's recent research emphasizes advancements in the classification of genetic variants associated with disorders of somatic mosaicism (DoSM), proposing modified guidelines that enhance existing frameworks for brain-specific disorders and aim to address broader applications to various DoSM presentations.
  • - Neidich investigates the genetic diagnostic challenges in Iranian patients with congenital anomalies, comparing the efficiency of various genomic technologies, including exome sequencing and chromosomal microarray analysis, to provide insights into effective diagnostic pathways in populations with high rates of consanguinity.
  • - Her work includes exploring genetic testing options for inherited eye diseases, analyzing the mutational spectrum of RAS variants in patients with DoSM, and enhancing understanding of next-generation sequencing applications in clinical settings for vascular malformations, showcasing the evolving landscape of genetic diagnostics.*

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