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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
A high-resolution copy-number variation resource for clinical and population geneticsMohammed Uddin, Bhooma Thiruvahindrapuram, Susan Walker, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsyMehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, et al.Nature|October 9, 2009
Origins and functional impact of copy number variation in the human genomeDonald F Conrad, Dalila Pinto, Richard Redon, et al.Medrxiv : the Preprint Server for Health Sciences|January 18, 2024
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locusMarcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.Biorxiv : the Preprint Server for Biology|November 26, 2025
Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortexKuldeep Kumar, Sayeh Kazem, Guillaume Huguet, et al.Nature Communications|October 30, 2022
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorderAda J S Chan, Worrawat Engchuan, Miriam S Reuter, et al.Human Molecular Genetics|May 8, 2023
Gene copy number variation and pediatric mental health/neurodevelopment in a general populationMehdi Zarrei, Christie L Burton, Worrawat Engchuan, et al.American Journal of Human Genetics|December 20, 2024
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locusMarcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.Plos Biology|September 7, 2007
The diploid genome sequence of an individual humanSamuel Levy, Granger Sutton, Pauline C Ng, et al.Nature|November 24, 2006
Global variation in copy number in the human genomeRichard Redon, Shumpei Ishikawa, Karen R Fitch, et al.Pageof 5