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UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published 11 papers during August 13th – 26th, 2023.

Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes. 

Warrier V, Stauffer EM, Huang QQ, Wigdor EM, Slob EAW, Seidlitz J, Ronan L, Valk SL, Mallard TT, Grotzinger AD, Romero-Garcia R, Baron-Cohen S, Geschwind DH, Lancaster MA, Murray GK, Gandal MJ, Alexander-Bloch A, Won H, Martin HC, Bullmore ET, Bethlehem RAI.

Nat Genet. 2023 Aug 17. doi: 10.1038/s41588-023-01475-y. Online ahead of print.

PMID: 37592024


Integrated Multimodal Analyses of DNA Damage Response and Immune Markers as Predictors of Response in Metastatic Triple-Negative Breast Cancer in the TNT Trial (NCT00532727). 

Tovey H, Sipos O, Parker JS, Hoadley KA, Quist J, Kernaghan S, Kilburn L, Salgado R, Loi S, Kennedy RD, Roxanis I, Gazinska P, Pinder SE, Bliss J, Perou CM, Haider S, Grigoriadis A, Tutt A, Cheang MCU.

Clin Cancer Res. 2023 Aug 14:OF1-OF15. doi: 10.1158/1078-0432.CCR-23-0370. Online ahead of print.

PMID: 37574209


SnapFISH: a computational pipeline to identify chromatin loops from multiplexed DNA FISH data. 

Lee L, Yu H, Jia BB, Jussila A, Zhu C, Chen J, Xie L, Hafner A, Mishra S, Wang DD, Strambio-De-Castillia C, Boettiger A, Ren B, Li Y, Hu M.

Nat Commun. 2023 Aug 12;14(1):4873. doi: 10.1038/s41467-023-40658-3.

PMID: 37573342 Free PMC article.


Large differences in collateral blood vessel abundance among individuals arise from multiple genetic variants. 

Faber JE, Zhang H, Xenakis JG, Bell TA, Hock P, Pardo-Manuel de Villena F, Ferris MT, Rzechorzek W.

J Cereb Blood Flow Metab. 2023 Aug 12:271678X231194956. doi: 10.1177/0271678X231194956. Online ahead of print.

PMID: 37572089


The relationship of neighborhood disadvantage, biological aging, and psychosocial risk and resilience factors in heart failure incidence among Black persons: A moderated mediation analysis. 

Bey GS, Pike JR, Zannas AS, Xiao Q, Yu B, Shah AM, Palta P.

J Gerontol B Psychol Sci Soc Sci. 2023 Aug 18:gbad121. doi: 10.1093/geronb/gbad121. Online ahead of print.

PMID: 37591789


Learning Optimal Group-structured Individualized Treatment Rules with Many Treatments. 

Ma H, Zeng D, Liu Y.

J Mach Learn Res. 2023;24:102.

PMID: 37588020


Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma. 

Green TE, Fujita A, Ghaderi N, Heinzen EL, Matsumoto N, Klein KM, Berkovic SF, Hildebrand MS.

Neurobiol Dis. 2023 Aug 12:106261. doi: 10.1016/j.nbd.2023.106261. Online ahead of print.

PMID: 37579995 Review.


Sex-specific transgenerational effects of preconception exposure to arsenite: metabolic phenotypes of C57BL/6 offspring. 

Shang B, Venkatratnam A, Liu T, Douillet C, Shi Q, Miller M, Cable P, Zou F, Ideraabdullah FY, Fry RC, Stýblo M.

Arch Toxicol. 2023 Aug 24. doi: 10.1007/s00204-023-03582-5. Online ahead of print.

PMID: 37615676


Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions. 

Maury EA, Sherman MA, Genovese G, Gilgenast TG, Kamath T, Burris SJ, Rajarajan P, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Macosko EZ, Walters JTR, O’Donovan M, Sullivan P; Psychiatric Genomic Consortium Schizophrenia and CNV workgroup (Collaborators include: Crowley J, Szatkiewicz J); Brain Somatic Mosaicism Network; Sebat J, Lee EA, Walsh CA.

Cell Genom. 2023 Jul 6;3(8):100356. doi: 10.1016/j.xgen.2023.100356. eCollection 2023 Aug 9.

PMID: 37601975 Free PMC article.


Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. 

Lowther C, Valkanas E, Giordano JL, Wang HZ, Currall BB, O’Keefe K, Pierce-Hoffman E, Kurtas NE, Whelan CW, Hao SP, Weisburd B, Jalili V, Fu J, Wong I, Collins RL, Zhao X, Austin-Tse CA, Evangelista E, Lemire G, Aggarwal VS, Lucente D, Gauthier LD, Tolonen C, Sahakian N, Stevens C, An JY, Dong S, Norton ME, MacKenzie TC, Devlin B, Gilmore K, Powell BC, Brandt A, Vetrini F, DiVito M, Sanders SJ, MacArthur DG, Hodge JC, O’Donnell-Luria A, Rehm HL, Vora NL, Levy B, Brand H, Wapner RJ, Talkowski ME.

Am J Hum Genet. 2023 Aug 16:S0002-9297(23)00250-1. doi: 10.1016/j.ajhg.2023.07.010. Online ahead of print.

PMID: 37595579


Repurposing of antiangiogenic agents for treatment of vascular anomalies. 

Blatt J, Brondon JE, Nieman EL, Phillips K, Pandya A.

Pharmacol Ther. 2023 Aug 23:108520. doi: 10.1016/j.pharmthera.2023.108520. Online ahead of print.

PMID: 37625520 Review.