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Title:           Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
Subject:         The American Journal of Human Genetics, 112 (2025) 537-553. doi:10.1016/j.ajhg.2025.01.001
Author:          Gazelle Zerafati-Jahromi
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      Title: Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
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        Title: Introduction
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        Title: Subjects and methods
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          Title: Subject recruitment and sequencing
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          Title: In silico analysis
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         Item: 
          Title: Analysis of mouse models
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          Title: C. elegans strains and culture conditions
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         Item: 
          Title: C. elegans genome editing using CRISPR-Cas9
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         Item: 
          Title: Measurement of C. elegans crawl speed, thrash rate, and body length
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         Item: 
          Title: Quantification of C. elegans ubiquitin-GFP accumulation
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         Item: 
          Title: Proteasomal inhibitor (bortezomib) treatment of C. elegans expressing Ub-GFP
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         Item: 
          Title: Quantification of C. elegans unfolded protein response using HSP-4/GFP
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         Item: 
          Title: Statistics and graphs
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        Title: Results
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          Title: Genetics findings
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         Item: 
          Title: Human missense variants
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         Item: 
          Title: Clinical phenotypes
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         Item: 
          Title: Neurological and neurodevelopmental disability phenotypes
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          Title: Behavioral and psychiatric phenotypes
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          Title: Epilepsy
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          Title: Brain abnormalities
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         Item: 
          Title: Hectd1 is required for normal hippocampal and corpus callosum morphogenesis in a mouse model
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          Title: Functional analysis of HECTD1 variants in C. elegans
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         Item: 
          Title: Enrichment of HECTD1 variants in published NDD and CHD cohorts
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  Checksum: 48e85ae1
   Type: CRC32
  Checksum: 64249f4c9354d78573459f0ad1cfb352
   Type: MD5
  Checksum: 685a4fc08fa42d0ccff74afec0b88c19f274a7d0
   Type: SHA-1
  Checksum: 4fa87bb8d145d5443bbc1c5ddd70840d15dca43cb9cb1c84ce50dafe8e9fe67f
   Type: SHA-256