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UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published ten papers during November 29 – December 12, 2020.



Effect of Sickle Cell Trait and APOL1 Genotype on the Association of Soluble uPAR with Kidney Function Measures in Blacks. 

Reiner AP, Raffield LM, Franceschini N, Auer PL, Lange EM, Nickerson DA, Zakai NA, Correa A, Olson N; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine Consortium; Natinal Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine Consortium.

Clin J Am Soc Nephrol. 2020 Dec 2:CJN.12100720. doi: 10.2215/CJN.12100720. Online ahead of print.

PMID: 33268503


In silico APC/C substrate discovery reveals cell cycle-dependent degradation of UHRF1 and other chromatin regulators. 

Franks JL, Martinez-Chacin RC, Wang X, Tiedemann RL, Bonacci T, Choudhury R, Bolhuis DL, Enrico TP, Mouery RD, Damrauer JS, Yan F, Harrison JS, Major MB, Hoadley KA, Suzuki A, Rothbart SB, Brown NG, Emanuele MJ.

PLoS Biol. 2020 Dec 11;18(12):e3000975. doi: 10.1371/journal.pbio.3000975. Online ahead of print.

PMID: 33306668


Ten years of enhancing neuro-imaging genetics through meta-analysis: An overview from the ENIGMA Genetics Working Group. 

Medland SE, Grasby KL, Jahanshad N, Painter JN, Colodro-Conde L, Bralten J, Hibar DP, Lind PA, Pizzagalli F, Thomopoulos SI, Stein JL, Franke B, Martin NG, Thompson PM; ENIGMA Genetics Working Group.

Hum Brain Mapp. 2020 Dec 10. doi: 10.1002/hbm.25311. Online ahead of print.

PMID: 33300665


FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. 

Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Berg JS, Brenner SE, Holm IA, Koenig BA, Parad RB, Powell CM, Kingsmore SF.

NPJ Genom Med. 2019 Dec 10;4(1):32. doi: 10.1038/s41525-019-0105-8.

PMID: 33293547


The Evolutionary History of Common Genetic Variants Influencing Human Cortical Surface Area. 

Tilot AK, Khramtsova EA, Liang D, Grasby KL, Jahanshad N, Painter J, Colodro-Conde L, Bralten J, Hibar DP, Lind PA, Liu S, Brotman SM, Thompson PM, Medland SE, Macciardi F, Stranger BE, Davis LK, Fisher SE, Stein JL.

Cereb Cortex. 2020 Dec 9:bhaa327. doi: 10.1093/cercor/bhaa327. Online ahead of print.

PMID: 33290510


Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. 

Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Gareth Evans D, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA; ClinGen TP53 Variant Curation Expert Panel.

Hum Mutat. 2020 Dec 10. doi: 10.1002/humu.24152. Online ahead of print.

PMID: 33300245


Genomic epidemiology of Escherichia coli isolates from a tertiary referral center in Lilongwe, Malawi. 

Tegha G, Ciccone EJ, Krysiak R, Kaphatika J, Chikaonda T, Ndhlovu I, van Duin D, Hoffman I, Juliano JJ, Wang J.

Microb Genom. 2020 Dec 9. doi: 10.1099/mgen.0.000490. Online ahead of print.

PMID: 33295867


A review and definition of ‘usual care’ in genetic counseling trials to standardize use in research. 

Biesecker BB, Lillie SE, Amendola LM, Donohue KE, East KM, Foreman AKM, Gilmore MJ, Greve V, Liangolou B, O’Daniel JM, Odgis JA, Rego S, Rolf B, Scollon S, Suckiel SA, Zepp J, Joseph G.

J Genet Couns. 2020 Dec 5. doi: 10.1002/jgc4.1363. Online ahead of print.

PMID: 33278053


Prolonged Glucocorticoid Exposure Does Not Accelerate Telomere Shortening in Cultured Human Fibroblasts. 

Zannas AS, Kosyk O, Leung CS.

Genes (Basel). 2020 Nov 27;11(12):E1425. doi: 10.3390/genes11121425.

PMID: 33261163


Confidence Intervals for Sparse Penalized Regression with Random Designs. 

Yu G, Yin L, Lu S, Liu Y.

J Am Stat Assoc. 2020;115(530):794-809. doi: 10.1080/01621459.2019.1585251. Epub 2019 May 7.

PMID: 33281249