N. Carolyn Schanen - Concepedia

Author

N. Carolyn Schanen

Also Known As

Bozena Mazur-Kolecka, N C Schanen, N Carolyn Schanen, N. C. Schanen, N. Carolyn Schanen, N. Schanen, N.C. Schanen, N.Carolyn Schanen

Publications

5.5K

Citations

H-Index

Concepts

All Affiliations

University of California, Los Angeles Alfred I. duPont Hospital for Children University of Delaware Community Health Systems - Dupont Hospital University of California, Davis

About

N. Carolyn Schanen is an author at University of California, Los Angeles specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	14	1.6K
2	Public Health	2	2	26
3	Education	1	1	16
4	Health Sciences	1	1	54
5	Natural Sciences	1	1	81

N. Carolyn Schanen

Publications

4.6K

Citations

H-Index

Page 1

	Year	Citations
Rett syndrome: Revised diagnostic criteria and nomenclature Jeffrey L. Neul, Walter E. Kaufmann, Daniel G. Glaze, Annals of Neurology	2010	1.4K
Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots Mimi Wan, Stephen Sung Jae Lee, Xianyu Zhang, The American Journal of Human Genetics Genome InstabilityRecurrent SpontaneousMendelian DisorderGenetic DisorderRett Syndrome	1999	515
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome Gevork N. Mnatzakanian, Hannes Lohi, Iulia Munteanu, Nature Genetics Disease MechanismGenetic DisorderRett SyndromeGeneticsMedicine	2004	343
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways † Yuhei Nishimura, Araceli Vázquez-López, Sarah Spence, Human Molecular Genetics	2007	274
Chromosome 15q11–13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number Amber Hogart, Karen Leung, N.J. Wang, Journal of Medical Genetics	2008	200
High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage Nicholas J. Wang, Dahai Liu, Alexander S. Parokonny, The American Journal of Human Genetics Array Cgh15Q11-q13 RearrangementsDna SequencingGene DosageMedicine	2004	180
The Interstitial Duplication 15q11.2‐q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature Nora Urraca, Julie Cleary, Victoria E. Brewer, Autism Research	2013	162
Limited availability of ZBP1 restricts axonal mRNA localization and nerve regeneration capacity Christopher J. Donnelly, Dianna E. Willis, Mei Xu, The EMBO Journal NeuroregenerationMolecular NeuroscienceNeuroanatomyNeuroscienceLimited Availability	2011	147
A New Rett Syndrome Family Consistent with X-Linked Inheritance Expands the X Chromosome Exclusion Map N. Carolyn Schanen, E. Jill Dahle, Fiorentino Capozzoli, The American Journal of Human Genetics	1997	115
Congenital thrombocytopenia and radio‐ulnar synostosis: a new familial syndrome Alexis A. Thompson, Kelly L Woodruff, Stephen A. Feig, British Journal of Haematology	2001	109

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