Department of Genetics faculty, postdocs, students and collaborators published 37 papers in the month of December 2025.
Functional classification of platelet gene variants using CRISPR HDR in CD34+ cell-derived megakaryocytes.
Kosaka Y, Lopez B, Kishimoto N, Jacob S, Montenont E, Huallanca R, Coughenour G, Di Paola J, Ross J, Lee K, Rondina MT, Bray PF, Rowley JW.
Am J Hum Genet. 2025 Dec 4;112(12):2888-2901. doi: 10.1016/j.ajhg.2025.11.004.
PMID: 41349512
Epigenome-wide association study meta-analysis of BMI in African Americans.
Ferrier K, Graff M, Konigsberg IR, Stanislawski M, Highland HM, Raffield LM, Carson AP, Boerwinkle E, Norris JM, Gignoux CR, Hendricks AE, Raghavan S, North KE, Young KL, Justice AE, Allison MA, Budoff MJ, Kasela S, Aguet F, Joseph JJ, Kooperberg C, Rich SS, Rotter JI, Lange EM, Lange LA.
HGG Adv. 2025 Dec 4:100552. doi: 10.1016/j.xhgg.2025.100552. Online ahead of print.
PMID: 41351263
Schughart K, Threlkeld SC, Sellers SA, Fischer WA 2nd, Schreiber J, Lücke E, Heise M, Smith AM.
Front Immunol. 2025 Nov 19;16:1693728. doi: 10.3389/fimmu.2025.1693728. eCollection 2025.
PMID: 41346583
TSC tunes progenitor balance and upper-layer neuron generation in neocortex.
Casingal CR, Nakagawa N, Yabuno-Nakagawa K, Meyer C, Liu S, Gkini V, Cho SJ, Skarica M, Liang D, Simon JM, Matoba N, Mallick A, Singla R, Park J, Huang CW, Wilson H, Lee J, Ghashghaei HT, Stuber GD, Heikinheimo O, Namba T, Stein JL, Anton ES.
Nature. 2025 Dec 3. doi: 10.1038/s41586-025-09810-5. Online ahead of print.
PMID: 41339559
Novel Computational Pipeline to Identify Target Sites for Broad Spectrum Antiviral Drugs.
Sears JD, Popov KI, Sylvester P, Dickmander R, Loome-Diaz J, Chang CK, Huff J, Sanders W, Saba NA, Sorensen M, Drobish AM, May NA, Namitz K, Fecko J, Yennawar NH, Morrison TE, Tropsha A, Heise MT, Moorman NJ.
Antiviral Res. 2025 Dec 1:106322. doi: 10.1016/j.antiviral.2025.106322. Online ahead of print.
PMID: 41338303
Liver single-nucleus multiome profiling reveals cell-type mechanisms for cardiometabolic traits.
Alkhawaja AA, Currin KW, Perrin HJ, Vadlamudi S, Etheridge AS, Broadaway KA, Cannon GH, Anderson CW, Moxley AH, Iuga AC, Schuetz EG, Innocenti F, Furey TS, Mohlke KL.
Am J Hum Genet. 2025 Dec 2:S0002-9297(25)00434-3. doi: 10.1016/j.ajhg.2025.11.009. Online ahead of print.
PMID: 41338218
Deciphering KRAS inhibitor resistance.
Torphy RJ, Pylayeva-Gupta Y.
Nat Cell Biol. 2025 Dec 2. doi: 10.1038/s41556-025-01757-z. Online ahead of print.
PMID: 41331086
Lanphier RM, Latham BD, Gerringer AJ, Interrante T, Jones CD, De Buysscher T, Fallon JK, Jackson KD.
Drug Metab Dispos. 2025 Nov 1;53(12):100195. doi: 10.1016/j.dmd.2025.100195. Online ahead of print.
PMID: 41344065
Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.
Burton BK, Amartino H, Giugliani R, Kampmann C, Raiman J, Scarpa M, Tylki-Szymańska A, Audi J, Botha J, Jain S, Muenzer J.
JIMD Rep. 2025 Dec 2;67(1):e70046. doi: 10.1002/jmd2.70046. eCollection 2026 Jan.
PMID: 41341569
Weingarten LS, Rosenbaum A, de Voest J, Galloway S, Giordano JL, Stover S, Westerfield LE, Bonesteele G, Gilmore KL, Tolusso L, Wong B, Wittman AT, Swarr DT, Leslie N, Johnson A, Van den Veyver IB, Vora NL, Clifton RG, Caughey AB, Wapner RJ, Chung WK.
Prenat Diagn. 2025 Dec 3. doi: 10.1002/pd.70034. Online ahead of print.
PMID: 41339121
Danilov A, Duran-Luciano P, Yuan Y, De Oliveira Gomes D, López JAG, Kent ST, Booth JN 3rd, Slipczuk L, Martinez C, Kaplan R, Sotres-Alvarez D, Thyagarajan B, Marcovina S, Sofer T, Daviglus M, Mehta A, Navar AM, Levine SR, Floyd J, Zou F, Joshi PH, Rodriguez CJ.
J Am Coll Cardiol. 2025 Dec 9;86(23):2292-2310. doi: 10.1016/j.jacc.2025.09.1605.
PMID: 41338840
Zhou H, Verma V, Li X, Li Z, Shedd N, Li TC, Yang H, Zhang A, Borsari B, Buyske S, Gerstein M, Matise T, Zody MC, Neale B, Weng Z, Sunyaev SR, Lin X.
Nucleic Acids Res. 2025 Dec 3:gkaf1217. doi: 10.1093/nar/gkaf1217. Online ahead of print.
PMID: 41335103
SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics.
Lai D, Sosicka P, Williams DJ, Bowyer ME, Ressler AK, Kohrt SE, Muron SJ, Crino PB, Freeze HH, Boland MJ, Heinzen EL.
Brain. 2025 Dec 4;148(12):4259-4274. doi: 10.1093/brain/awaf198.
PMID: 40418734
DeLuca M, Matentzoglu N, Sharp E, Li J, Hempstead C, Lim M, Kaniewski P, Carter EK, Koirala K, Ding E, Vijnck L, Brokmeier P, Toro S, Schaper K, Vergine J, Li O, Oprea TI, Fajgenbaum DC, Bizon C, Haendel M, Tropsha A.
Nucleic Acids Res. 2025 Dec 12:gkaf1312. doi: 10.1093/nar/gkaf1312. Online ahead of print.
PMID: 41385096
LinkML: An Open Data Modeling Framework.
Moxon SAT, Solbrig H, Harris NL, Kalita P, Miller MA, Patil S, Schaper K, Bizon C, Caufield JH, Cuesta SC, Cox C, Dekervel F, Dooley DM, Duncan WD, Fliss T, Gehrke S, Graefe ASL, Hegde H, Ireland AJ, Jacobsen JOB, Krishnamurthy M, Kroll C, Linke D, Ly R, Matentzoglu N, Overton JA, Saunders JL, Unni DR, Vaidya G, Vierdag WAM, Ruebel O, Chute CG, Brush MH, Haendel MA, Mungall CJ.
Gigascience. 2025 Dec 12:giaf152. doi: 10.1093/gigascience/giaf152. Online ahead of print.
PMID: 41384800
Groza T, Marcello AJ, Carlisle T, Lim WK, Haendel M, Karnani N, Robinson PN, Graessner H, Chong JX, Baynam G, Jamuar SS.
HGG Adv. 2025 Dec 10:100558. doi: 10.1016/j.xhgg.2025.100558. Online ahead of print.
PMID: 41383021
The IGVF catalog-from genetic variation to function.
Li D, Liu S, Assis PR, Li M, Dong S, Whaling I, Jolanki O, Kagda M, Zhang W, Macias-Velasco JF, Liu T, Cody S, Antonacci-Fulton L, Huang Y, Liu J, Montgomery MT, Zeiberg D, Jain S, Pejaver V, Bergquist T, Chen Y, Radivojac P, Gersbach CA, Sherpa RN, Castro CP, Boyle AP, Starita LM, Fowler DM, Ahituv N, Dey KK, Majoros WH, Reddy TE, Craven M, Sinha R, Sverchkov Y, Cai X, Nzima MZ, Calderwood MA, Rozowsky J, Gerstein M, Ma J, Yue F, Cherry JM, Love MI, Engreitz JM, Hitz BC, Wang T.
Nucleic Acids Res. 2025 Dec 8:gkaf1341. doi: 10.1093/nar/gkaf1341. Online ahead of print.
PMID: 41359121
Lai M, Kim K, Zheng Y, Castellani CA, Ratliff SM, Wang M, Liu X, Haessler J, Huan T, Bonsu K, Newcomb C, McKessy K, Bielak LF, Zhao W, Joehanes R, Ma J, Guo X, Manson JE, Grove ML, Bressler J, Taylor KD, Lappalainen T, Kasela S, Blackwell TW, Lake NJ, Faul JD, Ferrier KR, Ekker SC, Hou L, Kooperberg C, Reiner AP, Zhang K, Peyser PA, Fornage M, Boerwinkle E, Raffield LM, Carson AP, Rich SS, Liu Y, Levy D, Rotter JI, Smith JA, Arking DE, Liu C; NHLBI Trans-Omics for Precision Medicine (TOPMed) mtDNA Working Group.
Nat Commun. 2025 Dec 2;16(1):10962. doi: 10.1038/s41467-025-65845-2.
PMID: 41330919
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.
Gulrajani NB, Boscardin J, Lianoglou BR, Tick K, Santoli CMA, Miller KA, Jelin AC, Dugoff L, Giardine R, Feist C, Pilliod R, Dukhovny S, Gilmore K, Vora NL, Murphy A, Robinson PN, Norton ME, Sparks TN.
Prenat Diagn. 2025 Dec 8. doi: 10.1002/pd.70039. Online ahead of print.
PMID: 41360703
An integrated view of the structure and function of the human 4D nucleome.
Dekker J, Oksuz BA, Zhang Y, Wang Y, Minsk MK, Kuang S, Yang L, Gibcus JH, Krietenstein N, Rando OJ, Xu J, Janssens DH, Henikoff S, Kukalev A, Andréa W, Winick-Ng W, Kempfer R, Pombo A, Yu M, Kumar P, Zhang L, Belmont AS, Sasaki T, van Schaik T, Brueckner L, Peric-Hupkes D, van Steensel B, Wang P, Chai H, Kim M, Ruan Y, Zhang R, Quinodoz SA, Bhat P, Guttman M, Zhao W, Chien S, Liu Y, Venev SV, Plewczynski D, Azcarate II, Szabó D, Thieme CJ, Szczepińska T, Chiliński M, Sengupta K, Conte M, Esposito A, Abraham A, Zhang R, Wang Y, Wen X, Wu Q, Yang Y, Liu J, Boninsegna L, Yildirim A, Zhan Y, Chiariello AM, Bianco S, Lee L, Hu M, Li Y, Barnett RJ, Cook AL, Emerson DJ, Marchal C, Zhao P, Park PJ, Alver BH, Schroeder AJ, Navelkar R, Bakker C, Ronchetti W, Ehmsen S, Veit AD, Gehlenborg N, Wang T, Li D, Wang X, Nicodemi M, Ren B, Zhong S, Phillips-Cremins JE, Gilbert DM, Pollard KS, Alber F, Ma J, Noble WS, Yue F.
Nature. 2025 Dec 17. doi: 10.1038/s41586-025-09890-3. Online ahead of print.
PMID: 41407856
A practical introduction to wavelet analysis in electroretinography.
Shwetar YJ, Lalush DS, Zhang AY, McAnany JJ, Jeffrey BG, Haendel MA.
Doc Ophthalmol. 2025 Dec 15. doi: 10.1007/s10633-025-10070-x. Online ahead of print.
PMID: 41398515
APOBEC3 promotes squamous differentiation via IL-1A/AP-1 signaling.
Sturdivant MS, Truong AS, Zhou M, Toomer ED, Beckabir W, Raupp J, Manocha U, Zambrano IA, Tan HJ, Bjurlin MA, Smith AB, Rose TL, Milowsky MI, Wobker SE, Gessner KH, Damrauer JS, Kim WY.
Nat Commun. 2025 Dec 14. doi: 10.1038/s41467-025-67033-8. Online ahead of print.
PMID: 41390483
Cao S, Shrivastav A, Bleecker ER, Madapoosi S, Erb-Downward J, Zein J, Chen X, Howard TD, Hawkins GA, Barjaktarevic IZ, Bowler R, Barr RG, Comellas A, Cooper CB, Couper D, Han M, Hansel NN, Hastie AT, Kaner R, Kanner RE, Kim V, Martinez FJ, Moore WC, O’Neal WK, Paine R, Smith B, Hoffman EA, Meyers DA, Woodruff PG, Christenson S, Curtis JL, Huang YJ, Ortega VE.
BMJ Open Respir Res. 2025 Dec 18;12(1):e003572. doi: 10.1136/bmjresp-2025-003572.
PMID: 41419234
Sharma S, Kim SH, Hong T, Johnson AM, Jones A, Smith KN, Haynes KA.
Cell Syst. 2025 Dec 17;16(12):101478. doi: 10.1016/j.cels.2025.101478.
PMID: 41412114
Effects of rescaling forward-in-time population genetic simulations.
Marsh JI, Kaushik S, Johri P.
Genetics. 2025 Dec 16:iyaf263. doi: 10.1093/genetics/iyaf263. Online ahead of print.
PMID: 41400295
Klockner I, Yeturi M, Rust TE, Stein JL, Zylka MJ.
Sci Rep. 2025 Dec 24;15(1):44450. doi: 10.1038/s41598-025-28162-8.
PMID: 41444788
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L, Danis D, Rehburg F, Graefe ASL, Bily V, Caballero-Oteyza A, Cacheiro P, Chimirri L, Chong JX, Connelly E, de Vries BBA, Dingemans AJM, Duyzend MH, Freiberger T, Gehle P, Groza T, Hansen P, Jacobsen JOB, Klocperk A, Ladewig MS, Love MI, Marcello AJ, Mordhorst A, Munoz-Torres MC, Reese J, Schuetz C, Smedley D, Strauss T, Vladyka O, Zocche D, Thun S, Mungall CJ, Haendel MA, Robinson PN.
Am J Hum Genet. 2025 Dec 23:S0002-9297(25)00472-0. doi: 10.1016/j.ajhg.2025.12.001. Online ahead of print.
PMID: 41443197
Designing synthetic regulatory elements using the generative AI framework DNA-Diffusion.
DaSilva LF, Senan S, Kribelbauer-Swietek JF, Patel ZM, Louis LK, Reddy AJ, Gabbita S, Rosen JD, Nussbaum Z, Córdova CMV, Wenteler A, Weber N, Tunjic TM, Mansoldo M, Khan TA, Hwang GH, Gardeux V, Humphreys DT, Smith C, Bejan M, Bromley P, Connell W, Deplancke B, Love MI, Wong ES, Meuleman W, Pinello L.
Nat Genet. 2025 Dec 23. doi: 10.1038/s41588-025-02441-6. Online ahead of print.
PMID: 41437153
Mapping rare protein-coding variants on multi-organ imaging traits.
Fan Y, Chen J, Fan Z, Chirinos J, Stein JL, Sullivan PF, Wang R, Nadig A, Zhang DY, Huang S, Jiang Z, Guan PY, Qian X, Li T, Li H, Sun Z, Ritchie MD, O’Brien JM, Witschey W, Rader DJ, Li T, Zhu H, Zhao B.
Nat Commun. 2025 Dec 23. doi: 10.1038/s41467-025-67431-y. Online ahead of print.
PMID: 41436735
Dagli C, Armstrong ND, Kim D, Raffield LM, Tiwari HK, Cushman M, Judd SE, Crowe M, Howard VJ, Irvin MR.
J Stroke Cerebrovasc Dis. 2025 Dec 21:108535. doi: 10.1016/j.jstrokecerebrovasdis.2025.108535. Online ahead of print.
PMID: 41435906
Glass MR, Matoba N, Beltran AA, Patel NK, Farah TM, Eswar K, Bhargava S, Huang K, Curtin I, Ahmed S, Srivastava M, Drake E, Davis LT, Yeturi M, Sun K, Love MI, Simon JM, John TS, Marrus N, Pandey J, Estes A, Dager S, Schultz RT, Botteron K, Evans A, Kim SH, Styner M, McKinstry RC, Collins DL, Volk H, Benke K, Zwaigenbaum L, Hazlett H, Beltran AS, Girault JB, Shen MD, Piven J, Stein JL; Infant Brain Imaging Study Network.
Cell Stem Cell. 2025 Dec 22:S1934-5909(25)00435-7. doi: 10.1016/j.stem.2025.12.001. Online ahead of print.
PMID: 41435817
Bikas DV, Vardabasso S, Quickstad G, Wyper AN, Shpargel KB.
J Bone Miner Res. 2025 Dec 22:zjaf199. doi: 10.1093/jbmr/zjaf199. Online ahead of print.
PMID: 41427853
Van Buren E, Zhang Y, Li X, Selvaraj MS, Li Z, Zhou H, Palmer ND, Arnett DK, Blangero J, Boerwinkle E, Cade BE, Carlson JC, Carson AP, Chen YI, Curran J, Duggirala R, Fornage M, Franceschini N, Graff M, Gu C, Guo X, He J, Heard-Cosa N, Hou L, Hung YJ, Kalyani RR, Kardia SLR, Kenny E, Kooperberg C, Kral BG, Lange L, Levy D, Li C, Liu S, Lloyd-Jones D, Loos RJF, Manichaikul AW, Martin LW, Mathias R, Minster RL, Mitchell BD, Mychaleckyj JC, Naseri T, North K, O’Connell J, Perry JA, Peyser PA, Psaty BM, Raffield LM, Vasan RS, Redline S, Reiner AP, Rich SS, Smith JA, Spitzer B, Tang H, Taylor KD, Tracy R, Viali S, Yanek L, Zhao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Rotter JI, Peloso GM, Natarajan P, Lin X.
Nat Methods. 2025 Dec 31. doi: 10.1038/s41592-025-02919-5. Online ahead of print.
PMID: 41476111
Latham BD, Montazeri P, Lanphier RM, Gerringer AJ, Interrante T, Jones CD, De Busysscher T, Fallon JK, Jackson KD.
Drug Metab Dispos. 2025 Nov 3;53(12):100196. doi: 10.1016/j.dmd.2025.100196. Online ahead of print.
PMID: 41455147
Clissold KA, Gregory CW.
J Biomol Tech. 2025 Dec 22;36(4):15-24. eCollection 2025.
PMID: 41502860
Storch EA, McCarty RJ, Zehavi M, Ahmad M, Cruz VZ, Berrones D, Muñoz JS, Obando D, Rodriguez Barajas S, Frederick RM, Anderberg JL, Moore HC, Ochoa-Panaifo ME, Martinez Mallen MC, Onyeka OC, Wiese AD, Sagarnaga MN, McGuire JF, Ferrão YA; Latin American Trans-Ancestry INitiative for OCD genomics (LATINO); Brazilian Obsessive-Compulsive Spectrum Disorder Working Group (GTTOC); Goodman WK, Crowley JJ.
J Psychiatr Res. 2025 Dec 13:S0022-3956(25)00757-5. doi: 10.1016/j.jpsychires.2025.12.011. Online ahead of print.
PMID: 41483998
Ultrasound and SNP-based cell-free DNA zygosity testing in twin pregnancies.
Quintero R, Hurt KJ, Vora NL, Seligman NS, Reilly GP, Wick MJ, Wolf SB, Hopkins M, Westover T, Ahmadzia HK, Kanaan C, Rebarber A, Kontopoulos EV, Zhang J, Egbert M, Vourthis S, Cantu-Weinstein A, Saben JL, Jelsema R, Souter V, Johnson CT, Benn P.
J Matern Fetal Neonatal Med. 2026 Dec;39(1):2614840. doi: 10.1080/14767058.2026.2614840. Epub 2026 Jan 19.
PMID: 41555214