Research output per year
Research output per year
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Dive into the research topics where Carolyn Applegate is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
Harris, J. R., Gao, C. W., Britton, J. F., Applegate, C. D., Bjornsson, H. T. & Fahrner, J. A., Apr 2024, In: Human genetics. 143, 4, p. 607-624 18 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout
Applegate, C. D., Schiettecatte, F., Hamosh, A. & Amberger, J. S., Sep 2022, In: Current Protocols. 2, 9, e530.Research output: Contribution to journal › Article › peer-review
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The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective From the Pulmonary Fibrosis Foundation Genetic Testing Work Group
Pulmonary Fibrosis Foundation Genetic Testing Work Group, Aug 2022, In: CHEST. 162, 2, p. 394-405 12 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Harris, H. K., Nakayama, T., Lai, J., Zhao, B., Argyrou, N., Gubbels, C. S., Soucy, A., Genetti, C. A., Suslovitch, V., Rodan, L. H., Tiller, G. E., Lesca, G., Gripp, K. W., Asadollahi, R., Hamosh, A., Applegate, C. D., Turnpenny, P. D., Simon, M. E. H., Volker-Touw, C. M. L. & Gassen, K. L. I. V. & 61 others, , Jun 2021, In: Genetics in Medicine. 23, 6, p. 1028-1040 13 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
Schnappauf, O., Zhou, Q., Moura, N. S., Ombrello, A. K., Michael, D. G., Deuitch, N., Barron, K., Stone, D. L., Hoffmann, P., Hershfield, M., Applegate, C., Bjornsson, H. T., Beck, D. B., Witmer, P. D., Sobreira, N., Wohler, E., Chiorini, J. A., Center, T. A. G., Dalgard, C. L. & Center, N. I. S. & 2 others, , Aug 1 2020, In: Journal of Clinical Immunology. 40, 6, p. 917-926 10 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations