Department of Genetics Publications for November 19th – December 2nd, 2023

Department of Genetics faculty, postdocs, students and collaborators published 18 papers during November 19th – December 2nd, 2023.

 

 

Towards robust clinical genome interpretation: developing a consistent terminology to characterize Mendelian disease-gene relationships – allelic requirement, inheritance modes and disease mechanisms. 

Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, Robinson PN, Rath A, Sant DW, Stark Z, Whiffin N, Rehm HL, Ware JS.

Genet Med. 2023 Nov 16:101029. doi: 10.1016/j.gim.2023.101029. Online ahead of print.

PMID: 37982373

 

ARFID Genes and Environment (ARFID-GEN): study protocol. 

Bulik CM, Micali N, MacDermod CM, Qi B, Munn-Chernoff MA, Thornton LM, White J, Dinkler L, Pisetsky EM, Johnson J, Devine KR, Ortiz SN, Silverman AE, Berthold N, Dumain A, Guintivano J, Halvorsen M, Crowley JJ.

BMC Psychiatry. 2023 Nov 21;23(1):863. doi: 10.1186/s12888-023-05266-x.

PMID: 37990202 Free PMC article.

 

Cross-species investigation into the requirement of XPA for nucleotide excision repair. 

Kose C, Cao X, Dewey EB, Malkoç M, Adebali O, Sekelsky J, Lindsey-Boltz LA, Sancar A.

Nucleic Acids Res. 2023 Nov 22:gkad1104. doi: 10.1093/nar/gkad1104. Online ahead of print.

PMID: 37994737

 

Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use. 

Vora NL, Langlois S, Chitty LS.

Prenat Diagn. 2023 Nov 22. doi: 10.1002/pd.6469. Online ahead of print.

PMID: 37991340 Review.

 

Molecular characterization of plasmacytoid urothelial carcinoma and the impact on treatment implications. 

Weiss K, Gessner KH, Demzik A, Moreton E, Kim WY, Wobker SE, Rose TL, Milowsky MI, Bjurlin MA.

Cancer Treat Res Commun. 2023 Nov 17;37:100779. doi: 10.1016/j.ctarc.2023.100779. Online ahead of print.

PMID: 37988935

 

Machine learning-based morphological quantification of replicative senescence in human fibroblasts. 

Welter EM, Benavides S, Archer TK, Kosyk O, Zannas AS.

Geroscience. 2023 Nov 21. doi: 10.1007/s11357-023-01007-w. Online ahead of print.

PMID: 37985642

 

Patient sex, racial and ethnic disparities in emergency department triage: A multi-site retrospective study. 

Patel MD, Lin P, Cheng Q, Argon NT, Evans CS, Linthicum B, Liu Y, Mehrotra A, Murphy L, Ziya S.

Am J Emerg Med. 2023 Nov 10;76:29-35. doi: 10.1016/j.ajem.2023.11.008. Online ahead of print.

PMID: 37980725

 

ROCCO: A Robust Method for Detection of Open Chromatin via Convex Optimization. 

Hamilton NH, Furey TS.

Bioinformatics. 2023 Nov 29:btad725. doi: 10.1093/bioinformatics/btad725. Online ahead of print.

PMID: 38019944

 

Cryptic-site-specific antibodies to the SARS-CoV-2 receptor binding domain can retain functional binding affinity to spike variants. 

Li K, Huntwork RHC, Horn GQ, Abraha M, Hastie KM, Li H, Rayaprolu V, Olmedillas E, Feeney E, Cronin K, Schendel SL, Heise M, Bedinger D, Mattocks MD, Baric RS, Alam SM, Ollmann Saphire E, Tomaras GD, Dennison SM.

J Virol. 2023 Nov 29:e0107023. doi: 10.1128/jvi.01070-23. Online ahead of print.

PMID: 38019013

 

Branched chain amino acids harbor distinct and often opposing effects on health and disease. 

Avery CL, Howard AG, Lee HH, Downie CG, Lee MP, Koenigsberg SH, Ballou AF, Preuss MH, Raffield LM, Yarosh RA, North KE, Gordon-Larsen P, Graff M.

Commun Med (Lond). 2023 Nov 28;3(1):172. doi: 10.1038/s43856-023-00382-x.

PMID: 38017291 Free PMC article.

 

The genetic relationships between brain structure and schizophrenia. 

Stauffer EM, Bethlehem RAI, Dorfschmidt L, Won H, Warrier V, Bullmore ET.

Nat Commun. 2023 Nov 28;14(1):7820. doi: 10.1038/s41467-023-43567-7.

PMID: 38016951 Free PMC article.

 

Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis. 

Hasbani NR, Westerman KE, Heon Kwak S, Chen H, Li X, Dicorpo D, Wessel J, Bis JC, Sarnowski C, Wu P, Bielak LF, Guo X, Heard-Costa N, Kinney G, Mahaney MC, Montasser ME, Palmer ND, Raffield LM, Terry JG, Yanek LR, Bon J, Bowden DW, Brody JA, Duggirala R, Jacobs DR, Kalyani RR, Lange LA, Mitchell BD, Smith JA, Taylor KD, Carson A, Curran JE, Fornage M, Freedman BI, Gabriel S, Gibbs RA, Gupta N, Kardia SLR, Kral BG, Momin Z, Newman AB, Post WS, Viaud-Martinez KA, Young KA, Becker LC, Bertoni A, Blangero J, Carr JJ, Pratte K, Psaty BM, Rich SS; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Atherosclerosis Working Group; TOPMed Diabetes Working Group; Wu JC, Malhotra R, Peyser PA, Morrison AC, Vasan RS, Lin X, Rotter JI, Meigs JB, Manning AK, de Vries PS.

Circ Genom Precis Med. 2023 Nov 28:e004176. doi: 10.1161/CIRCGEN.123.004176. Online ahead of print.

PMID: 38014529

 

Evaluating the clinical validity of genes related to hemostasis and thrombosis using the ClinGen gene curation framework. 

Ross JE, Mohan S, Zhang J, Sullivan MJ, Bury L, Lee K, Futchi I, Frantz A, McDougal D, Botero JP, Cattaneo M, Cooper N, Downes K, Gresele P, Keenan C, Lee A, Megy K, Morange PE, Morgan NV, Schulze H, Zimowski K, Freson K, Lambert MP.

J Thromb Haemost. 2023 Nov 26:S1538-7836(23)00849-8. doi: 10.1016/j.jtha.2023.11.011. Online ahead of print.

PMID: 38016518

 

An evolutionary perspective on complex neuropsychiatric disease. 

McClellan JM, Zoghbi AW, Buxbaum JD, Cappi C, Crowley JJ, Flint J, Grice DE, Gulsuner S, Iyegbe C, Jain S, Kuo PH, Lattig MC, Passos-Bueno MR, Purushottam M, Stein DJ, Sunshine AB, Susser ES, Walsh CA, Wootton O, King MC.

Neuron. 2023 Nov 27:S0896-6273(23)00842-5. doi: 10.1016/j.neuron.2023.10.037. Online ahead of print.

PMID: 38016473 Review.

 

Adaptive Supervised Learning on Data Streams in Reproducing Kernel Hilbert Spaces with Data Sparsity Constraint. 

Wang H, Li Q, Liu Y.

Stat. 2023 Jan-Dec;12(1):e514. doi: 10.1002/sta4.514. Epub 2022 Oct 11.

PMID: 38037648 Free PMC article.

 

The Association of Cardiovascular and Neurological Comorbidities in Geriatric Patients Sustaining Ocular Trauma. 

Pham VQ, Miller HM, Fernandez EO, de Marchi D, Zhu H, Fleischman D.

Clin Ophthalmol. 2023 Nov 14;17:3409-3417. doi: 10.2147/OPTH.S434804. eCollection 2023.

PMID: 38026601 Free PMC article.

 

Discovery of Potent and Selective WDR5 Proteolysis Targeting Chimeras as Potential Therapeutics for Pancreatic Cancer. 

Yu X, Li D, Kottur J, Kim HS, Herring LE, Yu Y, Xie L, Hu X, Chen X, Cai L, Liu J, Aggarwal AK, Wang GG, Jin J.

J Med Chem. 2023 Nov 29. doi: 10.1021/acs.jmedchem.3c01521. Online ahead of print.

PMID: 38019706

 

Paramecium Genetics, Genomics, and Evolution. 

Long H, Johri P, Gout JF, Ni J, Hao Y, Licknack T, Wang Y, Pan J, Jiménez-Marín B, Lynch M.

Annu Rev Genet. 2023 Nov 27;57:391-410. doi: 10.1146/annurev-genet-071819-104035.

PMID: 38012024 Review.