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UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published 10 papers during January 1st – 14th, 2023.


Prognostic and Predictive Value of Immune-Related Gene Expression Signatures vs Tumor-Infiltrating Lymphocytes in Early-Stage ERBB2/HER2-Positive Breast Cancer: A Correlative Analysis of the CALGB 40601 and PAMELA Trials. 

Fernandez-Martinez A, Pascual T, Singh B, Nuciforo P, Rashid NU, Ballman KV, Campbell JD, Hoadley KA, Spears PA, Pare L, Brasó-Maristany F, Chic N, Krop I, Partridge A, Cortés J, Llombart-Cussac A, Prat A, Perou CM, Carey LA.

JAMA Oncol. 2023 Jan 5. doi: 10.1001/jamaoncol.2022.6288. Online ahead of print.

PMID: 36602784


Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines. 

Luo X, Maciaszek JL, Thompson BA, Leong HS, Dixon K, Sousa S, Anderson M, Roberts ME, Lee K, Spurdle AB, Mensenkamp AR, Brannan T, Pardo C, Zhang L, Pesaran T, Wei S, Fasaye GA, Kesserwan C, Shirts BH, Davis JL, Oliveira C, Plon SE, Schrader KA, Karam R; ClinGen CDH1 Variant Curation Expert Panel.

J Med Genet. 2022 Dec 7:jmg-2022-108807. doi: 10.1136/jmg-2022-108807. Online ahead of print.

PMID: 36600593


Depletion of HIV reservoir by activation of ISR signaling in resting CD4+T cells. 

Li D, Wong LM, Tang Y, Allard B, James KS, Thompson GR, Dandekar S, Browne EP, Li Q, Simon JM, Archin NM, Margolis DM, Jiang G.

iScience. 2022 Dec 7;26(1):105743. doi: 10.1016/j.isci.2022.105743. eCollection 2023 Jan 20.

PMID: 36590168 Free PMC article.


A network approach to compute hypervolume under receiver operating characteristic manifold for multi-class biomarkers. 

Feng Q, Liu P, Kuan PF, Zou F, Chen J, Li J.

Stat Med. 2023 Jan 3. doi: 10.1002/sim.9646. Online ahead of print.

PMID: 36597213


Understanding the experiences and perspectives of prenatal screening among a diverse cohort. 

Riches NO, Johnson EP, Subramaniam A, Vora NL, Hardisty E, LaRiviere K, Rothwell E.

Prenat Diagn. 2023 Jan 1. doi: 10.1002/pd.6297. Online ahead of print.

PMID: 36588184


MicroRNA-eQTLs in the developing human neocortex link miR-4707-3p expression to brain size. 

Lafferty MJ, Aygün N, Patel NK, Krupa O, Liang D, Wolter JM, Geschwind DH, de la Torre-Ubieta L, Stein JL.

Elife. 2023 Jan 11;12:e79488. doi: 10.7554/eLife.79488. Online ahead of print.

PMID: 36629315


Identification of collaborative cross mouse strains permissive to Salmonella enterica serovar Typhi infection. 

Alugupalli KR, Kothari S, Cravens MP, Walker JA, Dougharty DT, Dickinson GS, Gatto LA, Bäumler AJ, Wangdi T, Miller DR, Pardo-Manuel de Villena F, Siracusa LD.

Sci Rep. 2023 Jan 9;13(1):393. doi: 10.1038/s41598-023-27400-1.

PMID: 36624251 Free PMC article.


Developing a disease-specific annotation protocol for VHL gene curation using 

Salehipour D, Farncombe KM, Andric V, Ansar S, Delong S, Li E, Macpherson S, Ridd S, Ritter DI, Thaxton C, Kim RH.

Database (Oxford). 2023 Jan 6;2023:baac109. doi: 10.1093/database/baac109.

PMID: 36617168 Free PMC article.


PRC2 disruption in cerebellar progenitors produces cerebellar hypoplasia and aberrant myoid differentiation without blocking medulloblastoma growth. 

Cleveland AH, Malawsky D, Churiwal M, Rodriguez C, Reed F, Schniederjan M, Velazquez Vega JE, Davis I, Gershon TR.

Acta Neuropathol Commun. 2023 Jan 12;11(1):8. doi: 10.1186/s40478-023-01508-x.

PMID: 36635771


Sex-dependent differences in mouse placental gene expression following a maternal high fat diet. 

Grace M, Vora N, Smeester L, Dotters-Katz S, Fry R, Bae-Jump V, Boggess K.

Am J Perinatol. 2023 Jan 6. doi: 10.1055/a-2008-8286. Online ahead of print.

PMID: 36608700