Reference health
Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes
22/22 checkable references clean · checked 2026-07-23
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
3 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.
The 22 checked references that resolve
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Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population
resolves10.1111/j.1469-7610.2011.02455.x
Longitudinal follow‐up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class
resolves10.1038/mp.2012.138
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts
resolves10.1016/j.neuron.2015.09.016
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
resolves10.1371/journal.pgen.1005993
Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders
resolves10.1016/j.nbd.2008.08.011
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
resolves10.1002/aur.1284
The Interstitial Duplication 15q11.2‐q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature
resolves10.1002/humu.22800
15q11.2 Duplication Encompassing Only the<i>UBE3A</i>Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes
resolves10.1016/j.cell.2015.06.045
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A
resolves10.1038/nature13975
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA
resolves10.1038/nature10726
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons
resolves10.1172/JCI80554
Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model
resolves10.1186/s13229-018-0231-7
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants
resolves10.1016/j.neuron.2016.02.040
GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility
resolves10.1006/bbrc.1997.7111
A Transgenic Mouse Line That Retains Cre Recombinase Activity in Mature Oocytes Irrespective of thecreTransgene Transmission
resolves10.1006/dbio.2002.0597
Efficient Recombination in Diverse Tissues by a Tamoxifen-Inducible Form of Cre: A Tool for Temporally Regulated Gene Activation/Inactivation in the Mouse
resolves10.1172/JCI120816
Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice
resolves10.1038/nn1845
Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation
The 3 references without a DOI — listed, not checked
no DOI — not checkedCook EH, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet. 1997;60:928–34.
no DOI — not checkedFinucane BM, Lusk L, Arkilo D, Chamberlain S, Devinsky O, Dindot S, et al. 15q duplication syndrome and related disorders. In: GeneReviews®. Seattle: University of Washington; 1993.
no DOI — not checkedIntraperitoneal injection of tamoxifen for inducible Cre-driver lines. Available from:
https://www.jax.org/research-and-faculty/resources/cre-repository/tamoxifen
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