Research Report 2019_20


Absher: 1. Zhang, Y., et al. Skewed allelic expression on X chromosome associ- ated with aberrant expression of XIST on systemic lupus erythematosus lymphocytes. Human Molecular Genetics . 29 (15):2523-2534 (2020) 2. Breitbach, M.E. et al. Population-specific patterns of epigenetic defects in the B cell lineage in patients with systemic lupus ery- thematosus. Arthritis & Rheumatology . 72(2):282-291 (2020). Barsh: 1. Kaelin CB, et al. Specifying and sustaining pigmentation patterns in domestic and wild cats. Science. 337(6101):1536-1541 (2012). 2. Kaelin, C.B., McGowan, K.A. and Barsh G.S. Developmental genetics of color pattern establishment in cats. bioRxiv. 11.16.385609 (2020). 3. Bannasch, D.L., et al. Dog color patterns explained by modular promoters of ancient canid origin. bioRxiv.12.21.423812. (2020). Bick: 1. Hagenkord, J. et al. Design and reporting considerations for genetic screening tests. The Journal of Molecular Diagnostics . 22(5):599-609 (2020). 2. Hayeems, R.Z. et al. Clinical utility of genomic sequencing: A measurement toolkit. npj Genomic Medicine . 5, 56 (2020). 3. Marshall, C.R. et al. Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagno- sis of germline disease. npj Genomic Medicine . 5, 47 (2020).

Lyon: 1. Hurst, A.C.E. et al. Clinical diagnosis through whole-genome sequencing. The Clinical Chemist . 66(1):261-264 (2020). 2. Richards, S., et al. Standards and guidelines for the interpreta- tion of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Asso- ciation for Molecular Pathology. Genet Med 17, 405–423 (2015). 3. Hamad, L. et al. Recommended measures for the efficient care of patients with genetic disorders during the COVID-19 pandemic in low and middle income countries. Am J Med Genet . 182A:2841-2846 (2020). Myers: 1. Partridge, EC et al. Occupancy maps of 208 chromatin-associated proteins in one human cell type. Nature . 583(7818):720-728 (2020). 2. Ramaker, RC et al. Dissecting the regulatory activity and se- quence content of loci with exceptional numbers of transcription factor associations. Genome Research . 30:1-12 (2020). 3. Nicolas, A, et al. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron . 97: 1268-1283. (2018). 4. Cochran, JN et al. Non-coding and loss-of-function coding variants in TET2 are associated with multiple neurodegener- ative diseases. Am J Hum Genet . 106(5):632-645 (2020). 5. Rollins, BL, et al. Mitochondrial Complex I Deficiency in Schizophrenia and Bipolar Disorder and Medication In- fluence. Mol. Neuropsychiatry. 3:157-169. (2018). 6. Ramirez Aguilar L, et al. Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr). Alzheimers Dement. 15(5):709-719 (2019). May: 1. May, Thomas. Are public repository requirements exacerbat- ing lack of diversity? Trends in Genetics . 36(6):390-394 (2020). 2. May, Thomas, et al. Recruiting diversity where it exists: The Alabama Genomic Health Initiative. J Genet Counsel . 29(3):471-478 (2020). Schmutz and Grimwood 1. Chen, Z.J. et al. Genomic diversifications of five Gossyp- ium allopolyploid species and their impact on cotton im- provement. Nature Genetics . 52: 525-533 (2020). 2. Bertioli, D.J. et al. The genome sequence of segmental allotetraploid peanut Arachis hypogaea. Nature Genetics . 51:877-884 (2019). 3. Mamidi S et al. A genome resource for green millet Se- taria viridis enables discovery of agronomically valuable loci. Nature Biotechnology . 38:1203–1210 (2020).

Clevenger: 1. Cui, R. et al. Quantitative trait loci sequencing-de- rived molecular markers for selection of stem rot resis- tance in peanut. Crop Science . 60:2008-2018 (2020).

2. Fountain, J.C. et al. Two new Aspergillus flavus reference genomes reveal a large insertion potentially contributing to isol ate stress tolerance and aflatoxin production. G3: Genes, Genomes, Genetics. 10(10):3515-3531 (2020). 3. Agarwal, G. et al. A recombination bin-map identified a ma- jor QTL for resistance to Tomato Spotted Wilt Virus in peanut (Arachis hypogaea). Scientific Reports . 9:18246 (2019). G. Cooper: 1. Hiatt, S.M. et al. Deleterious variation in BRSK2 associates with a neurodevelopmental disorder. Am J Hum Gene (2019) 104(4):701-708. 2. Hiatt, S.M. et al. Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders. Human Genetics and Ge- nomics Advance s. 2, 100023 (2021) doi: 10.1016/j.xhgg.2021.100023. 3. Bowling, K. et al. Identifying rare, medically relevant variation via pop- ulation-based genomic screening in Alabama: opportunities and pitfalls. Genetics in Medicine (2020). S. Cooper: 1. Ramaker, R et al. Pooled CRISPR screening in pancreatic can- cer cells implicates co-repressor complexes as a cause of multi- ple drug resistance via regulation of epithelial-to-mesenchymal transition. bioRxiv (2020) doi: Han : 1. Liu, Hongna et al. Development of the iCubate molecular diag- nostic platform utilizing amplicon rescue multiplex polymerase chain reaction. J Biomed Nanotechnol . 15(7):1598-1608 (2019). 2. Niu, Xuefeng et al. Longitudinal analysis of T and B cell recep- tor repertoire transcripts reveal dynamic immune response in COVID-19 patients. Frontiers in Immunology . 11:582010 (2020). Harkess: 1. Chae, T. et al. Sex-linked gene expression and the reversion to hermaphroditism in Carica papaya L. (Caricaceae). bioRxiv 2020.06.25.169623; doi: 2. Josephs, E.B. et al. Adaptive and maladaptive expression plastici- ty underlying herbicide resistance in an agricultural weed. bioRxiv 2020.09.25.313650; doi:

4. Lowry, D.B. et al. QTL x environment interactions under- lie adaptive divergence in switchgrass across a large latitu- dinal gradient. PNAS. 116(26): 12933-12941 (2019).

5. Schmutz, J., et al. A reference genome for common bean and ge- nome-wide analysis of dual domestications. Nat Genet 46, 707–713 (2014).

Swaminathan: 1. Mitros, T. et al. Genome biology of the paleotetraploid perennial biomass crop Miscanthus. Nature Communications , 11, 5442 (2020).

2019-20 Research Report 63

Made with FlippingBook - Online magazine maker