Schanen, N. Carolyn

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

Wan, M., Lee, S. S. J., Zhang, X., Houwink-Manville, I., Song, H.-R., Amir, R. E., Budden, S., Naidu, S., Pereira, J. L. P., Lo, I. F. M., et al. (1999) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 520

Epigenetics of autism spectrum disorders

Schanen, N. C. (2006) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways †

Nishimura, Y., Martin, C. L., Vazquez-Lopez, A., Spence, S. J., Alvarez-Retuerto, A. I., Sigman, M., Steindler, C., Pellegrini, S., Schanen, N. C., Warren, S. T., et al. (2007) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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Chromosome 15q11–13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number

Hogart, A., Leung, K. N., Wang, N. J., Wu, D. J., Driscoll, J., Vallero, R. O., Schanen, N. C., & LaSalle, J. M. (2009) · Journal of Medical Genetics

Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalities

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The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature

Urraca, N., Cleary, J., Brewer, V., Pivnick, E. K., McVicar, K., Thibert, R. L., Schanen, N. C., Esmer, C., Lamport, D., & Reiter, L. T. (2013) · Autism Research

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin–proteasome pathway processes

Baron, C. A., Tepper, C. G., Liu, S. Y., Davis, R. R., Wang, N. J., Schanen, N. C., & Gregg, J. P. (2006) · Human Molecular Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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