Department of Genetics Publications for April 2026

Multi-ancestry transcriptome prediction with functionally informed variants in TOPMed MESA improves performance of transcriptome-wide association studies. 

Hu X, Araujo DS, Khunsriraksakul C, Wang L, Sun Q, Wen J, Zhou L, Ekunwe L, Lange LA, Lange EM, Montgomery SB, Reiner AP, Aguet F, Ardlie KG, Lappalainen T, Gignoux CR, Burchard EG, Taylor KD, Guo X, Rotter JI, Rich SS, Cornell E, Durda P, Tracy RP, Liu Y, Johnson WC, Papanicolaou GP, Perera MA, Cho MH, Liu DJ, Raffield LM, Li Y; TOPMed Multi-Omics Working Group; Wheeler HE, Im HK, Manichaikul A.

Am J Hum Genet. 2026 Apr 2;113(4):828-841. doi: 10.1016/j.ajhg.2026.03.008.

PMID: 41932314

Irgm1 Restrains CD8⁺ T Cell Cytokine Production and Apoptosis via Cell-Extrinsic Regulation of Type I Interferon Signaling. 

Molloy CT, Alwarawrah Y, Cohen JA, Fee BE, Whitmire JK, Taylor GA, MacIver NJ.

Eur J Immunol. 2026 Apr;56(4):e70113. doi: 10.1002/eji.70113.

PMID: 41906618

LocusPackRat: An R Package to Support Prioritizing Candidate Genes from Large GWAS Intervals with Standardized Evidence Aggregation. 

Gural B, Kimball T, Luu AN, Rau CD.

G3 (Bethesda). 2026 Mar 28:jkag081. doi: 10.1093/g3journal/jkag081. Online ahead of print.

PMID: 41902696

Editorial: Neuroglycobiology. 

Hanus C, Mealer RG, Zhao L, Klarić TS.

Front Mol Neurosci. 2026 Mar 18;19:1814339. doi: 10.3389/fnmol.2026.1814339. eCollection 2026.

PMID: 41928910      Free PMC article.

Expanding access to genomic analysis and reporting in research studies: The GENYSIS research core. 

Foss KS, Sneddon TP, Fensterle EP, Melville SA, Xiong M, Gregory CW, Greenwood P, Rafferty KA, Hutchins EK, Vora NL, Gilmore KL, Hunter SE, Weck KE, Berg JS, Powell BC.

J Clin Transl Sci. 2026 Feb 9;10(1):e54. doi: 10.1017/cts.2026.10696. eCollection 2026.

PMID: 41960595      Free PMC article.

Transcriptomic classification and clinicopathologic correlation of hepatocellular neoplasms with steatotic features in non-cirrhotic livers. 

Zhu LC, Patil SA, Kuhlers PC, Moon AM, Raab JR, Pfefferle AD, Hayward MC, Wielgus A, De la Cruz GE, Bantumilli S, Hoadley KA, Merker JD.

Pathology. 2026 Mar 6:S0031-3025(26)00432-0. doi: 10.1016/j.pathol.2025.12.006. Online ahead of print.

PMID: 41956937

African-specific genetic loci determine iron status and risk of severe malaria and bacteremia in African children. 

Muriuki JM, Mentzer AJ, Band G, Chong AY, Macharia AW, Mogire RM, Abuga KM, Mitchell R, Gilchrist JJ, Webb EL, Ndungu FM, Raffield LM, Ekunwe L, Bentley AR, Sirima SB, Madhi SA, Hill AVS, Prentice AM, Bejon P, Hemani G, Smith GD, Sandhu MS, Elliott AM, Williams TN, Adeyemo A, Atkinson SH.

Nat Commun. 2026 Apr 7. doi: 10.1038/s41467-026-71567-w. Online ahead of print.

PMID: 41946712

Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey? 

Roman TS, Gray S, Sneddon TP, Foreman AKM, Lee K, Powell CM, Weck KE, Berg JS, Powell BC.

HGG Adv. 2026 Apr 3:100605. doi: 10.1016/j.xhgg.2026.100605. Online ahead of print.

PMID: 41935954

Assessing molecular gene by treatment interactions using a population of neural progenitors exposed to valproic acid and lithium. 

Valone JM, Le BD, Matoba N, Mory JT, Wolter JM, Love MI, Stein JL.

Mol Psychiatry. 2026 Apr 4. doi: 10.1038/s41380-026-03578-4. Online ahead of print.

PMID: 41935183

Methylome-Wide Association Study of Obsessive-Compulsive Disorder. 

Höffler KD, Stavrum AK, Halvorsen MW, Eide TO, Hagen K, Høberg A; Nordic OCD and Related Disorders Consortium (NORDiC); Kvale G, Crowley JJ, Haavik J, Ressler KJ, Hansen B, Klengel T, Le Hellard S.

Biol Psychiatry. 2026 Apr 7:S0006-3223(26)01133-9. doi: 10.1016/j.biopsych.2026.03.1003. Online ahead of print.

PMID: 41956236

Egalitarian Justice and the Prevalence Principle in Human Genome Editing. 

MacKay D, Cadigan RJ, Juengst E, Robinson A, Walker RL.

J Med Philos. 2026 Apr 7:jhag008. doi: 10.1093/jmp/jhag008. Online ahead of print.

PMID: 41955300

An interpretable deep learning framework for predictive modeling of postoperative infections in ICU patients. 

Wu X, Luria I, Xiao M, Tighe P, Zou F, Zou B.

PLoS One. 2026 Apr 9;21(4):e0346896. doi: 10.1371/journal.pone.0346896. eCollection 2026.

PMID: 41955272      Free PMC article.

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges. 

Muenzer J, Dant M, Dickson PI, Ellinwood NM, Fuller M, Giugliani R, Hemsley K, Jones S, Klein T, Lampe C, Mitchell J, Muschol N, O’Neill C, Okuyama T, Scarpa M, Stewart F, Stevens B, Stephens K.

Mol Genet Metab. 2026 Mar 31;148(2):109911. doi: 10.1016/j.ymgme.2026.109911. Online ahead of print.

PMID: 41935419

Deep Learning Reveals Genomic Regions Introgressed between Two Recurrently Hybridizing Lynx Species. 

Bazzicalupo E, Lorenzo-Fernández L, Mayor-Fidalgo L, Soriano L, Schrider DR, Godoy JA.

Mol Biol Evol. 2026 Apr 8:msag086. doi: 10.1093/molbev/msag086. Online ahead of print.

PMID: 41964531

Safety of Pre-Operative Radiotherapy Combined With Intraoperative Radiotherapy for Retroperitoneal Sarcoma. 

MacDonald M, Dougherty K, Pham V, Yanagihara TK, Kim HJ, Spanheimer PM.

J Surg Oncol. 2026 Apr 14. doi: 10.1002/jso.70262. Online ahead of print.

PMID: 41981778

A single-cell multiomic analysis identifies molecular and gene-regulatory mechanisms dysregulated in developing Down syndrome neocortex. 

Vuong CK, Weber A, Seong P, Matoba N, Chen YJ, Peyer J, Younesi S, Salinda A, Gomez D, Rivas G, Morales A, Shafie B, Zhang P, Nichterwitz S, Qi L, Fernandez NT, Friedman E, Love MI, Gandal MJ, Geschwind DH, Lowry WE, Stein JL, de la Torre-Ubieta L.

Science. 2026 Apr 23;392(6796):eaea1259. doi: 10.1126/science.aea1259. Epub 2026 Apr 23.

PMID: 42024758

T cell receptor signaling induces expression of lysine demethylase KDM6B to maintainTreg homeostasis. 

He M, Xu B, Bose PG, McCullough MJ, Sellers RS, Zong X, Qi W, Banten BL, Tune MK, Zimmerman MP, Mullins GN, Miller BC, Milner JJ, Whitmire JK, Tsagaratou A, Shpargel KB, Doerschuk CM, Wang YD, Steele JA, Pruett-Miller SM, Feng Y, Mock JR.

J Clin Invest. 2026 Apr 23:e196022. doi: 10.1172/JCI196022. Online ahead of print.

PMID: 42024441

Heterogeneity in microbial antibiotic responses: genetic basis and within-host evolution. 

Liu Q, Lyu LD.

Trends Genet. 2026 Apr 17:S0168-9525(26)00085-5. doi: 10.1016/j.tig.2026.03.008. Online ahead of print.

PMID: 42000255      Free PMC article.

Leveraging long-read assemblies and machine learning to enhance short-read transposable element detection and genotyping. 

Daigle A, Whitehouse LS, Zhao R, Emerson JJ, Schrider DR.

Genetics. 2026 Apr 17:iyag101. doi: 10.1093/genetics/iyag101. Online ahead of print.

PMID: 41996583

Integrating common and rare variants improves polygenic risk prediction across diverse populations. 

Williams J, Chen T, Hua X, Wong W, Yu K, Kraft P, Li X, Zhang H.

Nat Commun. 2026 Apr 24. doi: 10.1038/s41467-026-72185-2. Online ahead of print.

PMID: 42031785

A North Carolina Newborn Screening Pilot for Mucopolysaccharidosis II: Evaluating Endogenous Non-Reducing End Glycosaminoglycan Analysis and IDS Sequencing as Higher-Tier Testing Options. 

Kucera KS, Clinard K, Blake SL, Copeland VR, Migliore B, Torrice L, Carter JK, Apoian JN, Tober KA, Thorp E, Gehtland LM, Shone SM, Jalazo ER, Bali D, Young SP, Rehder CW, Raspa M, Muenzer J.

Genet Med. 2026 Apr 21:102586. doi: 10.1016/j.gim.2026.102586. Online ahead of print.

PMID: 42017346

PCBP1 regulates alternative splicing of AARS2 in congenital cardiomyopathy. 

Lu YW, Liang Z, Dorr K, Ruiz S, Huang X, Fangnibo Hanvi D, Juntilla SM, Beutner G, Lyu S, Guo H, Fernandes T, Espinoza-Lewis RA, Wang T, Li K, Li X, Bir Singh G, Wang Y, Deng R, Cowan D, Mably JD, Pu WT, Huang J, Porter GA Jr, Conlon F, Chen H, Wang DZ.

Nat Cardiovasc Res. 2026 Apr;5(4):328-350. doi: 10.1038/s44161-026-00798-3. Epub 2026 Apr 20.

PMID: 42010330      Free PMC article.

Admixture-informed polygenic risk reporting using the ePRS framework. 

Huang YJ, Kurniansyah N, Goodman MO, Spitzer BW, Wang J, Stilp A, Laurie C, de Vries PS, Chen H, Min YI, Sims M, Peloso GM, Guo X, Bis JC, Brody JA, Raffield LM, Smith JA, Zhao W, Rotter JI, Rich SS, Redline S, Fornage M, Kaplan R, Franceschini N, Levy D, Morrison AC, Boerwinkle E, Smith NL, Kooperberg C, Psaty BM, Zöllner S; Trans-Omics for Precision Medicine Consortium; Sofer T.

Nat Commun. 2026 Apr 30. doi: 10.1038/s41467-026-72457-x. Online ahead of print.

PMID: 42062286

Integrated Genomic and Transcriptomic Study Reveals MAPK11 and PER1 as Important Obesity Susceptibility Genes in a High-Risk Hispanic/Latino Population. 

Kim D, Polikowsky HG, Highland HM, Chen HH, Zhu W, Zhang X, Gillman MG, Frankel EG, Roshani R, Landman JM, Wang Y, Young KL, Anwar MY, Krishnan M, Buchanan VL, Berndt SI, Arias JD, Raffield LM, Gutierrez AD, Bishehsari F, Lee M, McCormick JB, Fisher-Hoch SP, Below JE, North KE, Graff M.

Circ Genom Precis Med. 2026 Apr 27:e005298. doi: 10.1161/CIRCGEN.125.005298. Online ahead of print.

PMID: 42037308      Free PMC article.

Current Status of Per- and Poly-Fluoroalkyl Substances (PFAS) Exposure on Lung Cell Biology and Pulmonary Outcomes along Human Health Risk Assessment Steps. 

Dameris L, Carberry V, Seifert C, Sherman J, Hu Y, Rebuli ME, Turpin BJ, Surratt JD, Smith G, Rager JE.

Curr Allergy Asthma Rep. 2026 Apr 25;26(1):30. doi: 10.1007/s11882-026-01273-6.

PMID: 42033635      Free PMC article.

Mental health stigma in Latin American youth with obsessive-compulsive disorder. 

McCarty RJ, Jensen M, Cruz EPJS, Sagarnaga MN, Quiroz PC, Miño T, Giusti-Rodriguez P, Mallen MCM, Moyano MB, Berrones D, Anderberg JL, Frederick RM, Moore HC, Muñoz JS, Cruz VZ; Latin American Trans-ancestry INitiative for OCD genomics (LATINO); Brazilian Obsessive-Compulsive Spectrum Working Group (GTTOC); Onyeka OC, Wiese AD, Crowley JJ, Storch EA.

Psychiatry Res. 2026 Jul;361:117113. doi: 10.1016/j.psychres.2026.117113. Epub 2026 Mar 22.

PMID: 41933536

DDX3X-mediated translation of structured cardiac mRNAs is essential for female heart development. 

Mason KK, Park SK, Emerson JI, Lu YW, Wang DZ, Marzluff WF, Conlon FL.

Genes Dev. 2026 Apr 27. doi: 10.1101/gad.353320.125. Online ahead of print.

PMID: 42044994

Access alone does not define equity in reproductive genetics. 

Talati AN, Mottola A, Vora NL.

Eur J Hum Genet. 2026 Apr 27. doi: 10.1038/s41431-026-02115-9. Online ahead of print.

PMID: 42036472

Neighborhood disadvantage and accelerated epigenetic aging in the early aftermath of trauma: The moderating role of individual psychological resources. 

Webb EK, Zannas AS, Linnstaedt SD, House SL, Beaudoin FL, An X, Stevens JS, Neylan TC, Clifford GD, Jovanovic T, Rauch SL, Haran JP, Storrow AB, Lewandowski C, Musey PI Jr, Hendry PL, Sheikh S, Jones CW, Pascual JL, Seamon MJ, Harris E, Pearson C, Peak DA, Merchant RC, Domeier RM, Rathlev NK, O’Neil BJ, Sergot P, Sanchez LD, Bruce SE, Harte SE, Koenen KC, Ressler KJ, McLean SA, Harnett NG.

J Psychiatr Res. 2026 Apr 2;199:78-89. doi: 10.1016/j.jpsychires.2026.03.045. Online ahead of print.

PMID: 42033878