N. Carolyn Schanen

Dup15q Alliance — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

30h-index5.5kcitations60works0.02yr avg
OpenAlex↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Genetics and Neurodevelopmental Disorders(38), Autism Spectrum Disorder Research(23), Genomic variations and chromosomal abnormalities(18), Congenital heart defects research(8), Family and Disability Support Research(7)

Publications60 total

[Table, GeneReview Scope].
2016
Table 1. [Genomic Testing used in 15q Duplication and Related Disorders (dup15q)].
2016
Table 2. [15q Interstitial Duplication and Idic(15): Comparison of Clinical Features].
2016
15q Duplication Syndrome and Related Disorders
Europe PMC (PubMed Central)·2016· 40 cited
Figure 2. [Asymmetry in dup15q, as seen...].
2016
Figure 3. [Uncommon variations in copy number...].
2016
Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications
Acta Neuropathologica Communications·2015· 21 citedOpen Access
Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene
Human Molecular Genetics·2015· 70 citedOpen Access
Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome
Human Molecular Genetics·2013· 81 citedOpen Access
The link between intraneuronal N-truncated amyloid-β peptide and oxidatively modified lipids in idiopathic autism and dup(15q11.2-q13)/autism
Acta Neuropathologica Communications·2013· 30 citedOpen Access
The Interstitial Duplication 15q11.2‐q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature
Autism Research·2013· 162 citedOpen Access
Clinicopathological Stratification of Idiopathic Autism and Autism with 15q11.2–q13 Duplications
Elsevier eBooks·2012
Speech production-perception relationships in children with speech delay
2012· 3 cited
Abnormal Intracellular Accumulation and Extracellular Aβ Deposition in Idiopathic and Dup15q11.2-q13 Autism Spectrum Disorders
PLoS ONE·2012· 61 citedOpen Access
Differences Between the Pattern of Developmental Abnormalities in Autism Associated With Duplications 15q11.2-q13 and Idiopathic Autism
Journal of Neuropathology & Experimental Neurology·2012· 87 citedOpen Access
Ab Deposition in Idiopathic and Dup15q11.2-q13 Autism Spectrum Disorders
PLoS ONE·2012Open Access
Axonal Localization of Transgene mRNA in Mature PNS and CNS Neurons
Journal of Neuroscience·2011· 78 citedOpen Access
Limited availability of ZBP1 restricts axonal mRNA localization and nerve regeneration capacity
The EMBO Journal·2011· 147 citedOpen Access
Rett syndrome: Revised diagnostic criteria and nomenclature
Annals of Neurology·2010· 1.4k citedOpen Access
A Single-Tube Quantitative High-Resolution Melting Curve Method for Parent-of-Origin Determination of 15q Duplications
Genetic Testing and Molecular Biomarkers·2010· 16 citedOpen Access
page 1 of 3Next →

Frequent Co-authors

Janine M. LaSalle(7), Nicholas J. Wang(6), Jeffery L. Twiss(6), Edwin H. Cook(6), Uta Francke(5), Marian Sigman(5), Alan K. Percy(4), Jennette Driscoll(4), Lawrence T. Reiter(4), Jerzy Węgiel(4), Naghmeh Dorrani(4), H.-R. Song(3), David Wu(3), Sarah Spence(3), Alexander S. Parokonny(3), Ronald L. Thibert(3), W. Ted Brown(3), Izabela Kuchna(3), Krzysztof Nowicki(3), Jarek Wegiel(3)