Last Posted: Jan 07, 2021
- 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
- Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo Debra, et al. JAMA psychiatry 2015 12 1-11
- Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
Nava Caroline, et al. Amino acids 2015 7
- 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler Eva M, et al. Human molecular genetics 2014 11 (22) 6069-80
- A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease.
Zheng Xiaojing, et al. PloS one 2014 0 (11) e111462
- 16p11.2 duplication
From NCATS Genetic and Rare Diseases Information Center
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics 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.