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UNC Genetics Publications

Department of Genetics faculty, postdocs, students and collaborators published twelve papers during May 2-15, 2021.

 

β-D-N 4-hydroxycytidine (NHC) Inhibits SARS-CoV-2 Through Lethal Mutagenesis But Is Also Mutagenic To Mammalian Cells. 

Zhou S, Hill CS, Sarkar S, Tse LV, Woodburn BMD, Schinazi RF, Sheahan TP, Baric RS, Heise MT, Swanstrom R.

J Infect Dis. 2021 May 7:jiab247. doi: 10.1093/infdis/jiab247. Online ahead of print.

PMID: 33961695

 

The Eating Disorders Genetics Initiative (EDGI): study protocol. 

Bulik CM, Thornton LM, Parker R, Kennedy H, Baker JH, MacDermod C, Guintivano J, Cleland L, Miller AL, Harper L, Larsen JT, Yilmaz Z, Grove J, Sullivan PF, Petersen LV, Jordan J, Kennedy MA, Martin NG.

BMC Psychiatry. 2021 May 4;21(1):234. doi: 10.1186/s12888-021-03212-3.

PMID: 33947359

 

An Evidence-Based Assessment of Genes in Dilated Cardiomyopathy. 

Jordan E, Peterson L, Ai T, Asatryan B, Bronicki L, Brown E, Celeghin R, Edwards M, Fan J, Ingles J, James CA, Jarinova O, Johnson R, Judge DP, Lahrouchi N, Lekanne Deprez RH, Lumbers RT, Mazzarotto F, Medeiros Domingo A, Miller RL, Morales A, Murray B, Peters S, Pilichou K, Protonotarios A, Semsarian C, Shah P, Syrris P, Thaxton C, van Tintelen JP, Walsh R, Wang J, Ware J, Hershberger RE.

Circulation. 2021 May 5. doi: 10.1161/CIRCULATIONAHA.120.053033. Online ahead of print.

PMID: 33947203

 

ACTOR: a latent Dirichlet model to compare expressed isoform proportions to a reference panel. 

McCabe SD, Nobel AB, Love MI.

Biostatistics. 2021 May 5:kxab013. doi: 10.1093/biostatistics/kxab013. Online ahead of print.

PMID: 33948626

 

Klinefelter Syndrome and Turner Syndrome. 

Samango-Sprouse C, Song SQ, Lin AE, Powell CM, Gropman AL.

Pediatr Rev. 2021 May;42(5):272-274. doi: 10.1542/pir.2020-004028.

PMID: 33931514

 

Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci. 

Breeze CE, Batorsky A, Lee MK, Szeto MD, Xu X, McCartney DL, Jiang R, Patki A, Kramer HJ, Eales JM, Raffield L, Lange L, Lange E, Durda P, Liu Y, Tracy RP, Van Den Berg D; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed MESA Multi-Omics Working Group, Evans KL, Kraus WE, Shah S, Tiwari HK, Hou L, Whitsel EA, Jiang X, Charchar FJ, Baccarelli AA, Rich SS, Morris AP, Irvin MR, Arnett DK, Hauser ER, Rotter JI, Correa A, Hayward C, Horvath S, Marioni RE, Tomaszewski M, Beck S, Berndt SI, London SJ, Mychaleckyj JC, Franceschini N.

Genome Med. 2021 Apr 30;13(1):74. doi: 10.1186/s13073-021-00877-z.

PMID: 33931109

 

Lack of Support for the Genes by Early Environment Interaction Hypothesis in the Pathogenesis of Schizophrenia. 

Vassos E, Kou J, Tosato S, Maxwell J, Dennison CA, Legge SE, Walters JTR, Owen MJ, O’Donovan MC, Breen G, Lewis CM, Sullivan PF, Hultman C, Ruggeri M, Walshe M, Bramon E, Bergen SE, Murray RM.

Schizophr Bull. 2021 May 14:sbab052. doi: 10.1093/schbul/sbab052. Online ahead of print.

PMID: 33987677

 

Dual vaccination against IL-4 and IL-13 protects against chronic allergic asthma in mice. 

Conde E, Bertrand R, Balbino B, Bonnefoy J, Stackowicz J, Caillot N, Colaone F, Hamdi S, Houmadi R, Loste A, Kamphuis JBJ, Huetz F, Guilleminault L, Gaudenzio N, Mougel A, Hardy D, Snouwaert JN, Koller BH, Serra V, Bruhns P, Grouard-Vogel G, Reber LL.

Nat Commun. 2021 May 11;12(1):2574. doi: 10.1038/s41467-021-22834-5.

PMID: 33976140

 

Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial. 

Rini C, Roche MI, Lin FC, Foreman AKM, Khan CM, Griesemer I, Waltz M, Lee K, O’Daniel JM, Evans JP, Berg JS, Henderson GE.

Patient Educ Couns. 2021 Apr 29:S0738-3991(21)00291-3. doi: 10.1016/j.pec.2021.04.026. Online ahead of print.

PMID: 33966955

 

A Validated Functional Analysis of PALB2 (Partner and Localizer of BRCA2) Missense Variants for Use in Clinical Variant Interpretation. 

Brnich SE, Arteaga EC, Wang Y, Tan X, Berg JS.

J Mol Diagn. 2021 May 5:S1525-1578(21)00119-7. doi: 10.1016/j.jmoldx.2021.04.010. Online ahead of print.

PMID: 33964450

 

Correction to: Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life. 

Jiménez JA, Ptacek TS, Tuttle AH, Schmid RS, Moy SS, Simon JM, Zylka MJ.

Mol Autism. 2021 May 8;12(1):33. doi: 10.1186/s13229-021-00438-6.

PMID: 33964984

 

Spinal macrophages resolve nociceptive hypersensitivity after peripheral injury. 

Niehaus JK, Taylor-Blake B, Loo L, Simon JM, Zylka MJ.

Neuron. 2021 Apr 21;109(8):1274-1282.e6. doi: 10.1016/j.neuron.2021.02.018. Epub 2021 Mar 4.

PMID: 33667343