N.CarolynSchanenMD

Medical Genetics • Wilmington, DE

Clinical Genetics

Physician

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Office
1600 Rockland Rd
Ai Dupont Hospital For Children
Wilmington, DE 19803
Phone+1 302-651-4200

Fax+1 302-651-5033
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Summary

Dr. N. Schanen, MD is a medical geneticist in Wilmington, Delaware. She is currently licensed to practice medicine in Delaware and South Carolina.

Education & Training

Medical University of South CarolinaClass of 1991

Certifications & Licensure

SC State Medical License 2014 - 2025
DE State Medical License 2002 - 2015

Publications & Presentations

PubMed

9 citations
Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications
Jerzy Wegiel, Michael Flory, N. Carolyn Schanen, Edwin H. Cook, Krzysztof Nowicki, Izabela Kuchna, Humi Imaki, Shuang Yong Ma, Jarek Wegiel, Eric London, Manuel F. Cas...> ;Acta Neuropathologica Communications. 2015 Oct 13
41 citations
Rett Syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene
Meagan R. Pitcher, José A. Herrera, Shelly A. Buffington, Mikhail Y. Kochukov, Jonathan K. Merritt, Amanda R. Fisher, N. Carolyn Schanen, Mauro Costa-Mattioli, Jeffrey...> ;Human Molecular Genetics. 2015 Jan 29
50 citations
Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome
Dag H. Yasui, Michael L. Gonzales, Justin O. Aflatooni, Florence K. Crary, Daniel J. Hu, Bryant J. Gavino, Mari S. Golub, John B. Vincent, N. Carolyn Schanen, Carl O. ...> ;Human Molecular Genetics. 2014 May 1
20 citations
The link between intraneuronal N-truncated amyloid-β peptide and oxidatively modified lipids in idiopathic autism and dup(15q11.2-q13)/autism
Janusz Frackowiak, Bozena Mazur-Kolecka, N. Carolyn Schanen, W. Ted Brown, Jerzy Wegiel> ;Acta Neuropathologica Communications. 2013 Sep 16
114 citations
The Interstitial Duplication 15q11.2‐q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature
Nora Urraca, Julie Cleary, Victoria Brewer, Eniko K. Pivnick, Kathryn McVicar, Ronald L. Thibert, N. Carolyn Schanen, Carmen Esmer, Dustin Lamport, Lawrence T. Reiter> ;Autism Research. 2013 Aug 1
42 citations
Abnormal Intracellular Accumulation and Extracellular Aβ Deposition in Idiopathic and Dup15q11.2-q13 Autism Spectrum Disorders
Jerzy Wegiel, Janusz Frackowiak, Bozena Mazur-Kolecka, N. Carolyn Schanen, Edwin H. Cook, Marian Sigman, W. Ted Brown, Izabela Kuchna, Jarek Wegiel, Krzysztof Nowicki,...> ;Plos One. 2012 May 2
42 citations
Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.
Jerzy Wegiel, N. Carolyn Schanen, Edwin H. Cook, Marian Sigman, W. Ted Brown, Izabela Kuchna, Krzysztof Nowicki, Jarek Wegiel, Humi Imaki, Shuang Yong Ma, Elaine March...> ;Journal of Neuropathology and Experimental Neurology. 2012 May 1
127 citations
Limited availability of ZBP1 restricts axonal mRNA localization and nerve regeneration capacity
Christopher J. Donnelly, Dianna E. Willis, Mei Xu, Chhavy Tep, Chunsu Jiang, Soonmoon Yoo, N. Carolyn Schanen, Catherine B Kirn-Safran, Jan van Minnen, Arthur W. Engli...> ;The EMBO Journal. 2011 Nov 16
860 citations
Rett syndrome: Revised diagnostic criteria and nomenclature
Jeffrey L. Neul, Daniel G. Glaze, John Christodoulou, Angus John Clarke, Nadia Bahi-Buisson, Helen Leonard, Mark E.S. Bailey, N. Carolyn Schanen, Michele Zappella, Ale...> ;Annals of Neurology. 2010 Dec 1
8 citations
A Single-Tube Quantitative High-Resolution Melting Curve Method for Parent-of-Origin Determination of 15q Duplications
Nora Urraca, Lea K. Davis, Edwin H. Cook, N. Carolyn Schanen, Lawrence T. Reiter> ;Genetic Testing and Molecular Biomarkers. 2010 Aug 19
196 citations
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
Amber Hogart, David J Wu, Janine M. LaSalle, N. Carolyn Schanen> ;Neurobiology of Disease. 2010 May 1
12 citations
Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.
David J Wu, Nicholas J. Wang, Jennette Driscoll, Naghmeh Dorrani, Dahai Liu, Marian Sigman, N. Carolyn Schanen> ;Molecular Cytogenetics. 2009 Dec 18
89 citations
Chromosome 15q11–13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number
Amber Hogart, Karen N. Leung, N. J. Wang, David J Wu, Jennette Driscoll, Roxanne O. Vallero, N. C. Schanen, Janine M. LaSalle> ;Journal of Medical Genetics. 2008 Oct 3
61 citations
Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 i...
Asmita Kumar, Sachin Kamboj, Barbara M. Malone, Shinichi Kudo, Jeffery L. Twiss, Kirk J. Czymmek, Janine M. LaSalle, N. Carolyn Schanen> ;Journal of Cell Science. 2008 Apr 1
26 citations
Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15
Nicholas J. Wang, Alexander S. Parokonny, Karen N. Thatcher, Jennette Driscoll, Barbara M. Malone, Naghmeh Dorrani, Marian Sigman, Janine M. LaSalle, N. Carolyn Schanen> ;BMC Genetics. 2008 Jan 4
Atypical breakpoints generating mosaic interstitial duplication and triplication of chromosome 15q11-q13.
Alexander S. Parokonny, Nicholas J. Wang, Jennette Driscoll, Michael L. Cuccaro, Chantell Wolpert, Barbara M. Malone, N. Carolyn Schanen> ;American Journal of Medical Genetics. Part A. 2007 Oct 15
219 citations
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways†
Yuhei Nishimura, Christa Lese Martin, Araceli Vazquez-Lopez, Sarah J. Spence, Ana Isabel Alvarez-Retuerto, Marian Sigman, Corinna Steindler, Sandra Pellegrini, N. Caro...> ;Human Molecular Genetics. 2007 Jul 15
76 citations
Differential distribution of the MeCP2 splice variants in the postnatal mouse brain.
Joanna M. Dragich, Yong-Hwan Kim, Arthur P. Arnold, N. Carolyn Schanen> ;The Journal of Comparative Neurology. 2007 Apr 1
11 citations
PC12 cells regulate inducible cyclic AMP (cAMP) element repressor expression to differentially control cAMP response element-dependent transcription in response to ner...
Jay H. Chang, Deepika Vuppalanchi, Erna A. van Niekerk, Jane B. Trepel, N. Carolyn Schanen, Jeffery L. Twiss> ;Journal of Neurochemistry. 2006 Dec 1
215 citations
Epigenetics of autism spectrum disorders
N. Carolyn Schanen> ;Human Molecular Genetics. 2006 Oct 15
36 citations
Pathophysiological mechanisms for actions of the neurotrophins.
Jeffery L. Twiss, Jay H. Chang, N. Carolyn Schanen> ;Brain Pathology. 2006 Oct 1
56 citations
Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin–proteasome pathway processes
Colin A. Baron, Clifford G. Tepper, Stephenie Liu, Ryan R. Davis, Nicholas J. Wang, N. Carolyn Schanen, Jeffrey P. Gregg> ;Human Molecular Genetics. 2006 Mar 15
22 citations
Does Genotype Predict Phenotype in Rett Syndrome
Andrea L. Ham, Asmita Kumar, Rose Deeter, N. Carolyn Schanen> ;Journal of Child Neurology. 2005 Sep 1
5 citations
Rett syndrome: pathogenesis, diagnosis, strategies, therapies, and future research directions.
Kathleen M. Deidrick, Alan K. Percy, N. Carolyn Schanen, Laura Mamounas, Bernard L. Maria> ;Journal of Child Neurology. 2005 Sep 1
6 citations
Frasier syndrome comes full circle: genetic studies performed in an original patient.
Nicholas J. Wang, Hae Ri Song, N. Carolyn Schanen, Neil L. Litman, S. Douglas Frasier> ;The Journal of Pediatrics. 2005 Jun 1
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Grant Support

Investigation Of MECP2 Function In Rett SyndromeEunice Kennedy Shriver National Institute Of Child Health &Human Development2006–2010
Targeted Investigation Of Distal Xq In Rett SyndromeEunice Kennedy Shriver National Institute Of Child Health &Human Development2002–2004
Analysis Of Chromosome 15 Duplications In AutismEunice Kennedy Shriver National Institute Of Child Health &Human Development2002
Targeted Investigation Of Distal Xq In Rett SyndromeEunice Kennedy Shriver National Institute Of Child Health &Human Development2000–2002
Molecular Genetics Of Rett SyndromeEunice Kennedy Shriver National Institute Of Child Health &Human Development1996–1999
Molecular Genetics Of Rett SyndromeEunice Kennedy Shriver National Institute Of Child Health &Human Development1995–1996