Shaw, Chad A.

MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription

Chahrour, M., Jung, S. Y., Shaw, C., Zhou, X., Wong, S. T. C., Qin, J., & Zoghbi, H. Y. (2008) · Science

Genetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

Cited by 1,823

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism

Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron

Genomic variations and chromosomal abnormalitiesWilliams Syndrome Research

Cited by 1,263

A Protein–Protein Interaction Network for Human Inherited Ataxias and Disorders of Purkinje Cell Degeneration

Lim, J., Hao, T., Shaw, C., Patel, A. J., Szabó, G., Rual, J.-F., Fisk, C. J., Li, N., Smolyar, A., Hill, D. E., et al. (2006) · Cell

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 789

Analysis of 13 cell types reveals evidence for the expression of numerous novel primate- and tissue-specific microRNAs

Londin, E., Loher, P., Telonis, A. G., Quann, K., Clark, P., Jing, Y., Hatzimichael, E., Kirino, Y., Honda, S., Lally, M., et al. (2015) · Proceedings of the National Academy of Sciences

MicroRNA in disease regulationPlant Molecular Biology Research

Cited by 404

Disruption of the circadian clock within the cardiomyocyte influences myocardial contractile function, metabolism, and gene expression

Bray, M. S., Shaw, C. A., Moore, M. W. S., Garcia, R. A. P., Zanquetta, M. M., Durgan, D. J., Jeong, W. J., Tsai, J.-Y., Bugger, H., Zhang, D., et al. (2008) · American Journal of Physiology-Heart and Circulatory Physiology

Circadian rhythm and melatoninCardiac electrophysiology and arrhythmias

Cited by 384

MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome

Chen, L., Chen, K., Lavery, L. A., Baker, S. A., Shaw, C. A., Li, W., & Zoghbi, H. Y. (2015) · Proceedings of the National Academy of Sciences

Genetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

Cited by 301

Somatic mosaicism: implications for disease and transmission genetics

Campbell, I. M., Shaw, C. A., Stankiewicz, P., & Lupski, J. R. (2015) · Trends in Genetics

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 296

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus

Ben-Shachar, S., Chahrour, M., Thaller, C., Shaw, C. A., & Zoghbi, H. Y. (2009) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

Cited by 253

Protein interactome reveals converging molecular pathways among autism disorders

Sakai, Y., Shaw, C. A., Dawson, B. C., Dugas, D. V., Al-Mohtaseb, Z., Hill, D. E., & Zoghbi, H. Y. (2011) · Science Translational Medicine

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 226

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Coban-Akdemir, Z., White, J. J., Song, X., Jhangiani, S. N., Fatih, J. M., Gambin, T., Bayram, Y., Chinn, I. K., Karaca, E., Punetha, J., et al. (2018) · The American Journal of Human Genetics

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 219

Exercise and Genetic Rescue of SCA1 via the Transcriptional Repressor Capicua

Fryer, J. D., Yu, P., Kang, H., Mandel-Brehm, C., Carter, A. N., Crespo-Barreto, J., Gao, Y., Flora, A., Shaw, C., Orr, H. T., et al. (2011) · Science

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 162

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: Molecular characterization and genotype-phenotype correlations

Sahoo, T., Bacino, C. A., German, J. R., Shaw, C. A., Bird, L. M., Kimonis, V., Anselm, I., Waisbren, S., Beaudet, A. L., & Peters, S. U. (2007) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetic Syndromes and Imprinting

Cited by 152

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Celestino-Soper, P. B. S., Violante, S., Crawford, E. L., Luo, R., Lionel, A. C., Delaby, E., Cai, G., Sadikovic, B., Lee, K., Lo, C., et al. (2012) · Proceedings of the National Academy of Sciences

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 139

Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis

Crespo-Barreto, J., Fryer, J. D., Shaw, C. A., Orr, H. T., & Zoghbi, H. Y. (2010) · PLoS Genetics

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 136

A transcriptional profile of multicellular development in Dictyostelium discoideum

Van Driessche, N., Shaw, C., Katoh, M., Morio, T., Sucgang, R., Ibarra, M., Kuwayama, H., Saito, T., Urushihara, H., Maeda, M., et al. (2002) · Development

Developmental Biology and Gene RegulationSlime Mold and Myxomycetes Research

Cited by 130

De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 110

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

Lalani, S. R., Thakuria, J. V., Cox, G. F., Wang, X., Bi, W., Bray, M. S., Shaw, C., Cheung, S. W., Chinault, A. C., Boggs, B. A., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesCardiac Arrhythmias and Treatments

Cited by 108

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

Boone, P. M., Campbell, I. M., Baggett, B. C., Soens, Z. T., Rao, M. M., Hixson, P. M., Patel, A., Bi, W., Cheung, S. W., Lalani, S. R., et al. (2013) · Genome Research

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 69

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 19