16p11.2 Duplication
What's New
Last Posted: Oct 24, 2024
- TAOK2 Drives Opposing Cilia Length Deficits in 16p11.2 Deletion and Duplication Carriers.
Amy Ferreccio, et al. bioRxiv : the preprint server for biology 2024 0 - The role of copy number variants in the genetic architecture of common familial epilepsies.
, et al. Epilepsia 2023 0 - Genome-wide copy number variant screening of Saudi schizophrenia patients reveals larger deletions in cases versus controls.
Abumadini Mahdi S, et al. Frontiers in molecular neuroscience 2023 0 1069375 - Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
Coe Bradley P, et al. Nature genetics 2018 0 (1) 106-116 - Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.
Taylor Cora M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 25(1) 151-154 - A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants.
Chawner Samuel J R A, et al. The American journal of psychiatry 2021 0 (1) 77-86 - [Adolescent with a schizophreniform disorder and recurrent 16p11.2 duplication].
Castelein L, et al. Tijdschrift voor psychiatrie 2019 0 (6) 421-425 - Association of Rare Copy Number Variants With Risk of Depression.
Kendall Kimberley Marie, et al. JAMA psychiatry 2019 4 - A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population.
Yuan Jianmin, et al. Hereditas 2017 0 2 - Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications.
Chang Yi Shin, et al. Human brain mapping 2016 5
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- Alpha-1 Antitrypsin Deficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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