Department of Genetics Publications for December 22nd, 2024 – January 4th, 2025

Department of Genetics faculty, postdocs, students and collaborators published 11 papers during December 22nd, 2024 – January 4th, 2025.

 

Alterations of T Cell Subsets Associated with Sickle Cell Trait. 

Reiner AP, Raffield LM, Ekunwe L, Olson NC, Auer PL, Doyle MF.

Blood Genom Discov. 2025;9(1):10001. doi: 10.70322/bgd.2025.10001. Epub 2024 Oct 8.

PMID: 39720621

 

Prognostic value of residual disease (RD) biology and gene expression changes during the neoadjuvant treatment in patients with HER2+ early breast cancer (EBC). 

Fernandez-Martinez A, Tanioka M, Ahn SG, Zagami P, Pascual T, Rediti M, Tang G, Hoadley KA, Venet D, Rashid NU, Spears PA, Di Cosimo S, de Azambuja E, Choudhury A, Rastogi P, Islam MN, Cortes J, Llombart-Cussac A, Swain SM, Sotiriou C, Prat A, Perou CM, Carey LA.

Ann Oncol. 2024 Dec 18:S0923-7534(24)04989-5. doi: 10.1016/j.annonc.2024.12.010. Online ahead of print.

PMID: 39706338

 

Research Letter: Patient Attitudes Towards Haemophilia Gene Therapy at a US Haemophilia Treatment Center. 

Berkowitz C, Lee K, Kirkland K, Nielsen B, Ellsworth P, Ma A, Key NS.

Haemophilia. 2024 Dec 24. doi: 10.1111/hae.15139. Online ahead of print.

PMID: 39716893 No abstract available.

 

Multiple DNA repair pathways prevent acetaldehyde-induced mutagenesis in yeast. 

Porcher L, Vijayraghavan S, Patel Y, Becker S, Blouin T, McCollum J, Mieczkowski PA, Saini N.

Genetics. 2024 Dec 21:iyae213. doi: 10.1093/genetics/iyae213. Online ahead of print.

PMID: 39707916

 

Directed stochasticity: Building biomolecular condensates in the right place. 

Geisler MS, Kemp JP Jr, Duronio RJ.

J Cell Biol. 2025 Jan 6;224(1):e202412035. doi: 10.1083/jcb.202412035. Epub 2024 Dec 24.

PMID: 39718563

 

Classification of non-TCGA cancer samples to TCGA molecular subtypes using compact feature sets. 

Ellrott K, Wong CK, Yau C, Castro MAA, Lee JA, Karlberg BJ, Grewal JK, Lagani V, Tercan B, Friedl V, Hinoue T, Uzunangelov V, Westlake L, Loinaz X, Felau I, Wang PI, Kemal A, Caesar-Johnson SJ, Shmulevich I, Lazar AJ, Tsamardinos I, Hoadley KA; Cancer Genome Atlas Analysis Network; Robertson AG, Knijnenburg TA, Benz CC, Stuart JM, Zenklusen JC, Cherniack AD, Laird PW.

Cancer Cell. 2024 Dec 30:S1535-6108(24)00477-X. doi: 10.1016/j.ccell.2024.12.002. Online ahead of print.

PMID: 39753139

 

Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits. 

Brotman SM, El-Sayed Moustafa JS, Guan L, Broadaway KA, Wang D, Jackson AU, Welch R, Currin KW, Tomlinson M, Vadlamudi S, Stringham HM, Roberts AL, Lakka TA, Oravilahti A, Fernandes Silva L, Narisu N, Erdos MR, Yan T, Bonnycastle LL, Raulerson CK, Raza Y, Yan X, Parker SCJ, Kuusisto J, Pajukanta P, Tuomilehto J, Collins FS, Boehnke M, Love MI, Koistinen HA, Laakso M, Mohlke KL, Small KS, Scott LJ.

Nat Genet. 2025 Jan 2. doi: 10.1038/s41588-024-01982-6. Online ahead of print.

PMID: 39747594

 

Drug molecular representations for drug response predictions: a comprehensive investigation via machine learning methods. 

Xiao M, Zheng Q, Popa P, Mi X, Hu J, Zou F, Zou B.

Sci Rep. 2025 Jan 2;15(1):20. doi: 10.1038/s41598-024-84711-7.

PMID: 39748003

 

CHP2 Modifies Chronic Pseudomonas aeruginosa Airway Infection Risk in Cystic Fibrosis. 

Faino AV, Gordon WW, Buckingham K, Stilp AM, Pace RG, Raraigh KS, Collaco JM, Zhou YH, Dang H, O’Neal W, Knowles MK, Cutting GR, Rosenfeld M, Bamshad MJ, Gibson RL, Blue EE; Cystic Fibrosis Genome Project.

Ann Am Thorac Soc. 2025 Jan 2. doi: 10.1513/AnnalsATS.202408-868OC. Online ahead of print.

PMID: 39746161

 

A large reverse-genetic screen identifies numerous regulators of testis nascent myotube collective cell migration and collective organ sculpting. 

Bischoff MC, Norton JE, Munguia EA, Clark SE, Gurley NJ, Korankye R, Gyabaah EA, Encarnacion T, Serody CJ, Jones CD, Peifer M.

Mol Biol Cell. 2025 Jan 2:mbcE24100456. doi: 10.1091/mbc.E24-10-0456. Online ahead of print.

PMID: 39745864

 

Development of a Body of Knowledge for the Clinical Bioinformatician: Perspectives from the Association for Molecular Pathology’s Clinical Genomics Bioinformatician Body of Knowledge Steering Committee. 

Roy S, Fussell A, Jordan D, Kadri S, Leon A, Schmidt RJ, Temple-Smolkin RL, Merker JD.

J Mol Diagn. 2024 Dec 27:S1525-1578(24)00315-5. doi: 10.1016/j.jmoldx.2024.12.002. Online ahead of print.

PMID: 39734030 Review.