ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
Published 2021 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
Authors
Keywords
-
Journal
NEUROGENETICS
Volume 22, Issue 4, Pages 263-269
Publisher
Springer Science and Business Media LLC
Online
2021-07-04
DOI
10.1007/s10048-021-00655-4
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Germline AGO2 mutations impair RNA interference and human neurological development
- (2020) Davor Lessel et al. Nature Communications
- Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly
- (2019) Rui Yang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
- (2018) Davor Lessel et al. HUMAN GENETICS
- First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features
- (2017) Katja Kloth et al. European Journal of Medical Genetics
- De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
- (2015) Maja Hempel et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exon Organization and Novel Alternative Splicing of Ank3 in Mouse Heart
- (2015) Gokay Yamankurt et al. PLoS One
- Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders
- (2015) Marta Codina-Solà et al. Molecular Autism
- Giant ankyrin-G stabilizes somatodendritic GABAergic synapses through opposing endocytosis of GABAAreceptors
- (2015) Wei Chou Tseng et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Giant ankyrin-G: A critical innovation in vertebrate evolution of fast and integrated neuronal signaling
- (2015) Paul M. Jenkins et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Glial ankyrins facilitate paranodal axoglial junction assembly
- (2014) Kae-Jiun Chang et al. NATURE NEUROSCIENCE
- Psychiatric Risk Factor ANK3/Ankyrin-G Nanodomains Regulate the Structure and Function of Glutamatergic Synapses
- (2014) Katharine R. Smith et al. NEURON
- Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
- (2013) Z. Iqbal et al. HUMAN MOLECULAR GENETICS
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
- Mutations ofANK3identified by exome sequencing are associated with autism susceptibility
- (2012) Cheng Bi et al. HUMAN MUTATION
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- (2012) Stephan J. Sanders et al. NATURE
- Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort
- (2010) Lavinia Athanasiu et al. JOURNAL OF PSYCHIATRIC RESEARCH
- Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
- (2008) Manuel A R Ferreira et al. NATURE GENETICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started