Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

Global variation in copy number in the human genome

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Strong association of de novo copy number mutations with autism

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Large-scale copy number polymorphism in the human genome

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in Autism Spectrum Disorder

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A Paternal "Balanced" Chromosome 2 and 4 Translocation with Chromosome 21q Insertion Leading to Duplication of 2q22.1q24.1 in Two Siblings

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Large-scale examination of neuropsychiatric, cognitive and cardiovascular phenotypic associations with 15q11.2 BP1-BP2 deletion in ∼500,000 UK Biobank individualsPreprint

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Prenatal Diagnosis by Microarray Analysis

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Adaptive behavior deficits in individuals with 3q29 deletion syndromePreprint

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Association of complex traits with common genetic variation across genomic regions containing pathogenic copy number variationsPreprint

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Biological role and disease impact of copy number variation in complex disease

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Benign and Unknown Copy Number Variations in Bulgarian Patients with Intellectual Disability and Congenital Malformations

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epilepsy with intellectual disability Copy number variants are frequent in genetic generalized

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Mikrodeletionen 15q13.3, 16p13.11 und 15q11.2 in Epilepsien des Kindes- und Jugendalters

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Genetic diversity, population differentiation and intrachromosomal recombination inferring outcrossing in natural populations of Sclerotinia sclerotiorum

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Caracterização clínica de pacientes com deficiência intelectual sindrômica e alterações cromossômicas submicroscópicas detectadas pela análise cromossômica por microarray

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Knowledge-Driven Genome-Wide Analysis of Multigenic Interactions Impacting HDL Cholesterol Level

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Sequence based analysis of neurodevelopmental disorders

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Sequencing Approaches to Map Genes Linked to Schizophrenia

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Identifying Susceptibility Genes for Familial Pancreatic Cancer Using Novel High-Resolution Genome Interrogation Platforms

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Short history of the "Genomic Revolution" and implication for neurological institutes Breve storia della "Rivoluzione Genomica" e sue implicazioni per gli istituti neurologici

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Algorithms for structural variation discovery using multiple sequence signatures

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Perfil de variação no número de cópias do DNA e regiões de perda de heterozigose na susceptibilidade ao lúpus eritematoso sistêmico

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Structural variants in the great tit genome and their effect on seasonal timing

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Metabolic effects of the schizophrenia-associated 3q29 deletion are sex-specific and uncoupled from behavioral phenotypesPreprint

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A robust statistical method for Genome-wide association analysis of human copy number variationPreprint

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Copy Number Variation in the Human Genome

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Striking allelic diversity despite structural homogeneity of ace-1 duplications in Anopheles mosquitoesPreprint

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Frequency of Sex Chromosome Involvement in a Large Cohort of Subjects with Two Copy Number Variants

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Understanding Genetic Variability: Exploring Copy Number Variants through Non-Invasive Prenatal Testing in European PopulationsPreprint

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เครื่องมือวิเคราะห์แบบรวมสำหรับการแปรผันของจำนวนชุดดีเอ็นเอบนลำดับเอ็กโซม

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Additional file 5 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes

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Additional file 1 of Copy number variant analysis for syndromic congenital heart disease in the Chinese population

Li, P., Chen, W.-C., Li, M., Zhao, Z., Feng, Z., Gao, H., Suo, M., Xu, Z., Tian, G., Wu, F., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21443437

Additional file 10 of Copy number variant analysis for syndromic congenital heart disease in the Chinese population

Li, P., Chen, W.-C., Li, M., Zhao, Z., Feng, Z., Gao, H., Suo, M., Xu, Z., Tian, G., Wu, F., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21443431

Additional file 11 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes

Vysotskiy, M., Zhong, X. Y., Miller‐Fleming, T. W., Zhou, D., Cox, N. J., & Weiss, L. A. (2021) · Figshare · doi:10.6084/m9.figshare.16907188

Additional file 10 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes

Vysotskiy, M., Zhong, X. Y., Miller‐Fleming, T. W., Zhou, D., Cox, N. J., & Weiss, L. A. (2021) · Figshare · doi:10.6084/m9.figshare.16907185

Additional file 8 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes

Vysotskiy, M., Zhong, X. Y., Miller‐Fleming, T. W., Zhou, D., Cox, N. J., & Weiss, L. A. (2021) · Figshare · doi:10.6084/m9.figshare.16907215

Additional file 1 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes

Vysotskiy, M., Zhong, X. Y., Miller‐Fleming, T. W., Zhou, D., Cox, N. J., & Weiss, L. A. (2021) · Figshare · doi:10.6084/m9.figshare.16907194

Additional file 2 of Copy number variant analysis for syndromic congenital heart disease in the Chinese population

Li, P., Chen, W.-C., Li, M., Zhao, Z., Feng, Z., Gao, H., Suo, M., Xu, Z., Tian, G., Wu, F., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21443440

Additional file 8 of Copy number variant analysis for syndromic congenital heart disease in the Chinese population

Li, P., Chen, W.-C., Li, M., Zhao, Z., Feng, Z., Gao, H., Suo, M., Xu, Z., Tian, G., Wu, F., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21443458

Additional file 7 of Copy number variant analysis for syndromic congenital heart disease in the Chinese population

Li, P., Chen, W.-C., Li, M., Zhao, Z., Feng, Z., Gao, H., Suo, M., Xu, Z., Tian, G., Wu, F., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21443455

Additional file 7 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes

Vysotskiy, M., Zhong, X. Y., Miller‐Fleming, T. W., Zhou, D., Cox, N. J., & Weiss, L. A. (2021) · Figshare · doi:10.6084/m9.figshare.16907212

Additional file 2 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes

Vysotskiy, M., Zhong, X. Y., Miller‐Fleming, T. W., Zhou, D., Cox, N. J., & Weiss, L. A. (2021) · Figshare · doi:10.6084/m9.figshare.16907197

Additional file 9 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes

Vysotskiy, M., Zhong, X. Y., Miller‐Fleming, T. W., Zhou, D., Cox, N. J., & Weiss, L. A. (2021) · Figshare · doi:10.6084/m9.figshare.16907218

Additional file 4 of Copy number variant analysis for syndromic congenital heart disease in the Chinese population

Li, P., Chen, W.-C., Li, M., Zhao, Z., Feng, Z., Gao, H., Suo, M., Xu, Z., Tian, G., Wu, F., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21443446

Additional file 6 of Copy number variant analysis for syndromic congenital heart disease in the Chinese population

Li, P., Chen, W.-C., Li, M., Zhao, Z., Feng, Z., Gao, H., Suo, M., Xu, Z., Tian, G., Wu, F., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21443452

Additional file 1 of X-CNV: genome-wide prediction of the pathogenicity of copy number variations

Zhang, L., Shi, J., Ouyang, J., Zhang, R., Tao, Y., Yuan, D., Lv, C., Wang, R., Ning, B., Roberts, R. A., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15253452

Approche globale intégrative pour l’identification de nouvelles cibles moléculaires dans la polyarthrite rhumatoïde

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CNVs in Patients with Neurodevelopmental Disorders: Meta-Analysis

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Identification of Transdiagnostic Childhood Externalizing Pathology Within an Electronic Medical Records Database and Application to the Analysis of Rare Copy Number Variation

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Copy Number Variation in Adult‐Onset Neuropsychiatric Disease

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Detection of Genomic Inversion from Single End Read

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Additional file 1 of The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities

Ye, F., Xu, X., Wang, Y., Chen, L., Shan, Q., Wang, Q., & Jin, F. (2024) · Figshare · doi:10.6084/m9.figshare.25556530

Additional file 3 of Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations

Holesova, Z., Pös, O., Gazdarica, J., Kucharík, M., Budiš, J., Hýblová, M., Minárik, G., & Szemes, T. (2024) · Figshare · doi:10.6084/m9.figshare.26706558

Additional file 2 of The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities

Ye, F., Xu, X., Wang, Y., Chen, L., Shan, Q., Wang, Q., & Jin, F. (2024) · Figshare · doi:10.6084/m9.figshare.25556675

Additional file 2 of X-CNV: genome-wide prediction of the pathogenicity of copy number variations

Zhang, L., Shi, J., Ouyang, J., Zhang, R., Tao, Y., Yuan, D., Lv, C., Wang, R., Ning, B., Roberts, R., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15253461

Additional file 5 of Copy number variant analysis for syndromic congenital heart disease in the Chinese population

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Additional file 9 of Copy number variant analysis for syndromic congenital heart disease in the Chinese population

Li, P., Chen, W., Li, M., Zhao, Z., Feng, Z., Gao, H., Suo, M., Xu, Z., Tian, G., Wu, F., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21443461

Molecular Genetic Studies of ALSG, Kostmann Syndrome and a Novel Chromosome 10 Inversion

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Additional file 1 of Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases

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Human Copy Number Variation and Complex Genetic Disease

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Copy-number variation in control population cohorts

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Germ-line DNA copy number variation frequencies in a large North American population

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Population-genetic nature of copy number variations in the human genome

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