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NPJ Genomic Medicine|November 29, 2025
UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literatureMiriam S Reuter, Nelson Bautista Salazar, Jennifer L Howe, et al.European Journal of Human Genetics : EJHG|November 17, 2011
Severe intellectual disability and autistic features associated with microduplication 2q23.1Brian H Y Chung, Sureni Mullegama, Christian R Marshall, et al.Biological Psychiatry|January 22, 2022
A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational AttainmentElemi J Breetvelt, Karel C Smit, Jessica van Setten, et al.International Journal of Molecular Sciences|March 6, 2021
Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the GenomeGhausia Begum, Ammar Albanna, Asma Bankapur, et al.Journal of Neurodevelopmental Disorders|August 30, 2014
Copy number variation in Han Chinese individuals with autism spectrum disorderMatthew J Gazzellone, Xue Zhou, Anath C Lionel, et al.Journal of Medical Genetics|March 25, 2011
Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletionsAnn M Joseph-George, Yongshu He, Christian R Marshall, et al.Human Molecular Genetics|July 2, 2013
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarraysGregory Costain, Anath C Lionel, Daniele Merico, et al.G3 (Bethesda, Md.)|January 1, 2013
A discovery resource of rare copy number variations in individuals with autism spectrum disorderAparna Prasad, Daniele Merico, Bhooma Thiruvahindrapuram, et al.Journal of Medical Genetics|September 14, 2019
Impact of DNA source on genetic variant detection from human whole-genome sequencing dataBrett Trost, Susan Walker, Syed A Haider, et al.Human Genetics|July 20, 2007
Germ-line DNA copy number variation frequencies in a large North American populationGeorge Zogopoulos, Kevin C H Ha, Faisal Naqib, et al.Pageof 88