Department of Genetics Publications December 12th, 2021 – January 1st, 2022

Department of Genetics faculty, postdocs, students and collaborators published 14 papers during December 12^th, 2021 – January 1^st, 2022.

 

Integrated Metabolic Profiling and Transcriptional Analysis Reveals Therapeutic Modalities for Targeting Rapidly Proliferating Breast Cancers. 

Liao C, Glodowski CR, Fan C, Liu J, Mott KR, Kaushik A, Vu H, Locasale JW, McBrayer SK, DeBerardinis RJ, Perou CM, Zhang Q.

Cancer Res. 2021 Dec 15:canres.CAN-21-2745-E.2021. doi: 10.1158/0008-5472.CAN-21-2745. Online ahead of print.

PMID: 34911787

 

A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders. 

Johnson K, Saylor K, Guynn I, Hicklin K, Berg JS, Lich KH.

Genet Med. 2021 Dec 6:S1098-3600(21)05358-2. doi: 10.1016/j.gim.2021.10.008. Online ahead of print.

PMID: 34906467 Review.

 

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification. 

Chora JR, Iacocca MA, Tichý L, Wand H, Kurtz CL, Zimmermann H, Leon A, Williams M, Humphries SE, Hooper AJ, Trinder M, Brunham LR, Costa Pereira A, Jannes CE, Chen M, Chonis J, Wang J, Kim S, Johnston T, Soucek P, Kramarek M, Leigh SE, Carrié A, Sijbrands EJ, Hegele RA, Freiberger T, Knowles JW, Bourbon M; ClinGen Familial Hypercholesterolemia Expert Panel.

Genet Med. 2021 Nov 18:S1098-3600(21)04140-X. doi: 10.1016/j.gim.2021.09.012. Online ahead of print.

PMID: 34906454

 

A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis. 

Hannah WB, Nizialek G, Dempsey KJ, Armitage KB, McCandless SE, Konczal LL.

Mol Genet Metab Rep. 2021 Nov 25;29:100825. doi: 10.1016/j.ymgmr.2021.100825. eCollection 2021 Dec.

PMID: 34900596 Free PMC article.

 

A Prognostic Model Based on PAM50 and Clinical Variables (PAM50MET) for Metastatic Hormone Receptor-positive HER2-negative Breast Cancer. 

Prat A, Tsai YH, Pascual T, Paré L, Adamo B, Vidal M, Brasó-Maristany F, Galván P, Brase JC, Rodrik-Outmezguine V, Johnston S, Ciruelos E, Parker JS.

Clin Cancer Res. 2020 Dec 1;26(23):6141-6148. doi: 10.1158/1078-0432.CCR-20-2793. Epub 2020 Sep 22.

PMID: 32962980 Clinical Trial.

 

Specific modulation of the root immune system by a community of commensal bacteria. 

Teixeira PJPL, Colaianni NR, Law TF, Conway JM, Gilbert S, Li H, Salas-González I, Panda D, Del Risco NM, Finkel OM, Castrillo G, Mieczkowski P, Jones CD, Dangl JL.

Proc Natl Acad Sci U S A. 2021 Apr 20;118(16):e2100678118. doi: 10.1073/pnas.2100678118.

PMID: 33879573 Free PMC article.

 

International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies. 

Palomaki GE, Chiu RWK, Pertile MD, Sistermans EA, Yaron Y, Vermeesch JR, Vora NL, Best RG, Wilkins-Haug L.

Prenat Diagn. 2021 Sep;41(10):1222-1232. doi: 10.1002/pd.5832. Epub 2020 Nov 15.

PMID: 33016373 No abstract available.

 

Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. 

Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MS, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, Ardissino D, Arnett DK, Aslibekyan S, Atzmon G, Ballantyne CM, Barajas-Olmos F, Barzilai N, Becker LC, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Bown MJ, Brody JA, Broome JG, Burtt NP, Cade BE, Centeno-Cruz F, Chan E, Chang YC, Chen YI, Cheng CY, Choi WJ, Chowdhury R, Contreras-Cubas C, Córdova EJ, Correa A, Cupples LA, Curran JE, Danesh J, de Vries PS, DeFronzo RA, Doddapaneni H, Duggirala R, Dutcher SK, Ellinor PT, Emery LS, Florez JC, Fornage M, Freedman BI, Fuster V, Garay-Sevilla ME, García-Ortiz H, Germer S, Gibbs RA, Gieger C, Glaser B, Gonzalez C, Gonzalez-Villalpando ME, Graff M, Graham SE, Grarup N, Groop LC, Guo X, Gupta N, Han S, Hanis CL, Hansen T, He J, Heard-Costa NL, Hung YJ, Hwang MY, Irvin MR, Islas-Andrade S, Jarvik GP, Kang HM, Kardia SLR, Kelly T, Kenny EE, Khan AT, Kim BJ, Kim RW, Kim YJ, Koistinen HA, Kooperberg C, Kuusisto J, Kwak SH, Laakso M, Lange LA, Lee J, Lee J, Lee S, Lehman DM, Lemaitre RN, Linneberg A, Liu J, Loos RJF, Lubitz SA, Lyssenko V, Ma RCW, Martin LW, Martínez-Hernández A, Mathias RA, McGarvey ST, McPherson R, Meigs JB, Meitinger T, Melander O, Mendoza-Caamal E, Metcalf GA, Mi X, Mohlke KL, Montasser ME, Moon JY, Moreno-Macías H, Morrison AC, Muzny DM, Nelson SC, Nilsson PM, O’Connell JR, Orho-Melander M, Orozco L, Palmer CNA, Palmer ND, Park CJ, Park KS, Pedersen O, Peralta JM, Peyser PA, Post WS, Preuss M, Psaty BM, Qi Q, Rao DC, Redline S, Reiner AP, Revilla-Monsalve C, Rich SS, Samani N, Schunkert H, Schurmann C, Seo D, Seo JS, Sim X, Sladek R, Small KS, So WY, Stilp AM, Tai ES, Tam CHT, Taylor KD, Teo YY, Thameem F, Tomlinson B, Tsai MY, Tuomi T, Tuomilehto J, Tusié-Luna T, Udler MS, van Dam RM, Vasan RS, Viaud Martinez KA, Wang FF, Wang X, Watkins H, Weeks DE, Wilson JG, Witte DR, Wong TY, Yanek LR; AMP-T2D-GENES, Myocardial Infarction Genetics Consortium; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; NHLBI TOPMed Lipids Working Group, Kathiresan S, Rader DJ, Rotter JI, Boehnke M, McCarthy MI, Willer CJ, Natarajan P, Flannick JA, Khera AV, Peloso GM.

Am J Hum Genet. 2021 Dec 16:S0002-9297(21)00452-3. doi: 10.1016/j.ajhg.2021.11.021. Online ahead of print.

PMID: 34932938

 

Human-relevant mechanisms and risk factors for TAK-875-Induced liver injury identified via a gene pathway-based approach in Collaborative Cross mice. 

Mosedale M, Cai Y, Eaddy JS, Kirby PJ, Wolenski FS, Dragan Y, Valdar W.

Toxicology. 2021 Sep;461:152902. doi: 10.1016/j.tox.2021.152902. Epub 2021 Aug 18.

PMID: 34418498

 

Multi-ethnic GWAS and fine-mapping of glycaemic traits identify novel loci in the PAGE Study. 

Downie CG, Dimos SF, Bien SA, Hu Y, Darst BF, Polfus LM, Wang Y, Wojcik GL, Tao R, Raffield LM, Armstrong ND, Polikowsky HG, Below JE, Correa A, Irvin MR, Rasmussen-Torvik LJF, Carlson CS, Phillips LS, Liu S, Pankow JS, Rich SS, Rotter JI, Buyske S, Matise TC, North KE, Avery CL, Haiman CA, Loos RJF, Kooperberg C, Graff M, Highland HM.

Diabetologia. 2021 Dec 24. doi: 10.1007/s00125-021-05635-9. Online ahead of print.

PMID: 34951656

 

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca²⁺regulation. 

Halvorsen M, Gould L, Wang X, Grant G, Moya R, Rabin R, Ackerman MJ, Tester DJ, Lin PT, Pappas JG, Maurano MT, Goldstein DB, Tsien RW, Devinsky O.

Proc Natl Acad Sci U S A. 2021 Dec 28;118(52):e2115140118. doi: 10.1073/pnas.2115140118.

PMID: 34930847

 

Optimism and telomere length among African American adults in the Jackson Heart Study. 

Lee HH, Okuzono SS, Kim ES, De Vivo I, Raffield LM, Glover L, Sims M, Grodstein F, Kubzansky LD.

Psychoneuroendocrinology. 2021 Mar;125:105124. doi: 10.1016/j.psyneuen.2020.105124. Epub 2020 Dec 29.

PMID: 33434830

 

Immunogenicity of a DNA-Based Sindbis Replicon Expressing Crimean-Congo Hemorrhagic Fever Virus Nucleoprotein. 

Tipih T, Heise M, Burt FJ.

Vaccines (Basel). 2021 Dec 16;9(12):1491. doi: 10.3390/vaccines9121491.

PMID: 34960237 Free PMC article.

 

Natural rodent model of viral transmission reveals biological features of virus population dynamics. 

Fay EJ, Balla KM, Roach SN, Shepherd FK, Putri DS, Wiggen TD, Goldstein SA, Pierson MJ, Ferris MT, Thefaine CE, Tucker A, Salnikov M, Cortez V, Compton SR, Kotenko SV, Hunter RC, Masopust D, Elde NC, Langlois RA.

J Exp Med. 2022 Feb 7;219(2):e20211220. doi: 10.1084/jem.20211220. Epub 2021 Dec 27.

PMID: 34958350