HudsonAlpha Research Report 2021-2022

REFERENCES

p. 8-9 1. Puckett E.E., et al. Genetic architecture and evolution of color variation in Amer- ican black bears, Current Biology (2022), DOI: 10.1016/j.cub.2022.11.042 p. 10-11 1. East, K.M., et al. A state-based ap- proach to genomics for rare disease and population screening. Genet Med (2021) 23, 777–781 . DOI: 10.1038/s41436-020- 01034-4 p. 12-13 1. Fatumo, S., et al. A roadmap to increase diversity in genomic studies. Nat Med (2022) 28: 243-250. DOI: 10.1038/s41591- 021-01672-4. 2. “Alabama Genomic Health Initiative Annual Report 2021.” Alabama Genomic Health Initiative. January 2022. https://www.uabmedicine.org/aghi 3. “Research Roundup: Data Expansion Bolsters Trove of COVID-19 Data.” All of Us Research Program. 23 June 2022. https:// allofus.nih.gov/news-events/announce- ments/research-roundup-data-expan- sion-bolsters-trove-covid-19-data/ p. 18-21 1. Anderson, A.G., et al. Single nucleus multiomics identifies ZEB1 and MAFB as candidate regulators of Alzheimer’s disease-specific cis regulatory elements. bioRxiv (2022) 2022.10.04.510636. DOI: https://doi.org/10.1101/2022.10.04.510636. 2. Roberts B.S., et al. Discovery and Validation of Circulating Biomarkers of Colorectal Adenoma by High-Depth Small RNA Sequencing. Clin Cancer Res . (2018) 24(9):2092-2099. DOI: 10.1158/1078-0432. CCR-17-1960.

p. 22-25 1. Rogers, B., et al. Identification of cis-regulatory elements associated with MAPT expression in human iPSC-derived neural cells. Poster presentation at 2022 Alzheimer’s Association International Conference. https://alz.confex.com/ alz/2022/meetingapp.cgi/Paper/68661. p. 26-27 1. Lopera F., et al. Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. JAMA (1997) 277(10):793-9. DOI: 10.1001/jama.1997.03540340027028 2. Acosta-Uribe, J., et al. A neurodegener- ative disease landscape of rare muta- tions in Colombia due to founder effects. Genome Med (2022) 14, 27. DOI: 10.1186/ s13073-022-01035-9. 3. Cochran, J.N., et al. Genetic asso- ciations with age at dementia onset in the PSEN I E280A Colombian kindred. medRxiv (2020) 2020.09.23.20198424; DOI: 10.1101/2020.09.23.20198424. 4. Ibanez A, Yokoyama JS, Possin KL, et al. The multi-partner consortium to ex- pand dementia research in Latin America (ReDLat): Driving multicentric research and implementation science. Front Neurol. (2021) 12:631722. DOI: 10.3389/ fneur.2021.631722.

2. Hiatt, S. M., et al. Deleterious, pro- tein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype. Accepted for publication at American Journal of Human Genetics . p. 36-37 1. Marchant, D.B., et al. Dynamic genome evolution in a model fern. Nat. Plants (2022) 8, 1038–1051. DOI: 10.1038/s41477- 022-01226-7. 2. Hiatt, S.M., et al. Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders. Human Genetics and Genomics Advances (2021) 2(2): 100023. DOI: 10.1016/j.xhgg.2021.100023. p. 38-41 1. Lovell, J.T., et al. Genomic mechanisms of climate adaptation in polyploid bioen- ergy switchgrass. Nature 590, 438–444 (2021). DOI: 10.1038/s41586-020-03127-1. 2. Napier, J. D., et al., A generalist-spe- cialist tradeoff between switchgrass cytotypes impacts climate adaptation and geographic range. Proceedings of the National Academy of Sciences of the United States of America (2022) 119 (15) e2118879119. DOI: 10.1073/ pnas.2118879119. 3. Carrell A.A., et al. Experimental warm- ing alters the community composition, diversity, and N2 fixation activity of peat moss (Sphagnum fallax) microbiomes. Global Change Biology (2019) 25(9):2993- 3004. DOI: 10.1111/gcb.14715. 4. Carrell, A.A., et al. Novel metabolic interactions and environmental conditions mediate the boreal peatmoss-cyano- bacteria mutualism. ISME J (2022) 16, 1074–1085. DOI: 10.1038/s41396-021- 01136-0.

p. 28-31 1. Arend RC, et al. Metabolic Alterations and WNT Signaling

Impact Immune Response in HGSOC. Clin Cancer Res. (2022) 28(7):1433-1445. DOI: 10.1158/1078-0432.CCR-21-2984. p. 32-35 1. Bowling, K. M., et al. Genome sequencing as a first-line diagnostic test for hospitalized infants. Genetics in

Medicine (2021) 24:4, 851-861. DOI: 10.1016/j.gim.2021.11.020.

HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY

78

Made with FlippingBook - Online magazine maker