Dickel, Diane E.

Microduplications of 16p11.2 are associated with schizophrenia

Wellcome Trust Case Control Consortium, McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., et al. (2009) · Nature Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 667

Enhancer redundancy provides phenotypic robustness in mammalian development

Osterwalder, M., Barozzi, I., Tissières, V., Fukuda-Yuzawa, Y., Mannion, B. J., Afzal, S. Y., Lee, E. A., Zhu, Y., Plajzer-Frick, I., Pickle, C. S., et al. (2018) · Nature

Genomics and Chromatin DynamicsDevelopmental Biology and Gene Regulation

Cited by 642

Single-nucleus analysis of accessible chromatin in developing mouse forebrain reveals cell-type-specific transcriptional regulation

Preissl, S., Fang, R., Huang, H., Zhao, Y., Raviram, R., Gorkin, D. U., Zhang, Y., Sos, B. C., Afzal, V., Dickel, D. E., et al. (2018) · Nature Neuroscience

Single-cell and spatial transcriptomicsGenomics and Chromatin Dynamics

Cited by 332

Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorder

Dickel, D. E., Veenstra-VanderWeele, J., Cox, N. J., Wu, X., Fischer, D. J., Van Etten-Lee, M., Himle, J. A., Leventhal, B. L., Cook, E. H., & Hanna, G. L. (2006) · Archives of General Psychiatry

Obsessive-Compulsive Spectrum DisordersGenetic Associations and Epidemiology

Cited by 274

Germline Chd8 haploinsufficiency alters brain development in mouse

Gompers, A. L., Su-Feher, L., Ellegood, J., Copping, N. A., Riyadh, M. A., Stradleigh, T. W., Pride, M. C., Schaffler, M. D., Wade, A. A., Catta-Preta, R., et al. (2017) · Nature Neuroscience

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 266

Ultraconserved Enhancers Are Required for Normal Development

Dickel, D. E., Ypsilanti, A. R., Pla, R., Zhu, Y., Barozzi, I., Mannion, B. J., Khin, Y. S., Fukuda-Yuzawa, Y., Plajzer-Frick, I., Pickle, C. S., et al. (2018) · Cell

Genomics and Chromatin DynamicsDevelopmental Biology and Gene Regulation

Cited by 190

Supervised enhancer prediction with epigenetic pattern recognition and targeted validation

Sethi, A., Gu, M., Gumusgoz, E., Chan, L., Yan, K.-K., Rozowsky, J., Barozzi, I., Afzal, V., Akiyama, J. A., Plajzer-Frick, I., et al. (2020) · Nature Methods

Genomics and Chromatin DynamicsEpigenetics and DNA Methylation

Cited by 109

Ultraconserved enhancer function does not require perfect sequence conservation

Snetkova, V., Ypsilanti, A. R., Akiyama, J. A., Mannion, B. J., Plajzer-Frick, I., Novak, C. S., Harrington, A. N., Pham, Q. T., Kato, M., Zhu, Y., et al. (2021) · Nature Genetics

Genomics and Chromatin DynamicsDevelopmental Biology and Gene Regulation

Cited by 79

Range extender mediates long-distance enhancer activity

Bower, G., Hollingsworth, E. W., Jacinto, S. H., Alcantara, J. A., Clock, B., Cao, K., Liu, M., Dziulko, A., Alcaina-Caro, A., Xu, Q., et al. (2025) · Nature

Genomics and Chromatin DynamicsDevelopmental Biology and Gene Regulation

Cited by 49

Author response: High-resolution deep mutational scanning of the melanocortin-4 receptor enables target characterization for drug discovery

Howard, C. J., Abell, N. S., Osuna, B. A., Jones, E. M., Chan, L. Y., Chan, H., Artis, D. R., Asfaha, J. B., Bloom, J. S., Cooper, A. R., et al. (2025) · eLife

Receptor Mechanisms and SignalingRegulation of Appetite and Obesity

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