{"id":12345,"date":"2023-01-02T14:06:42","date_gmt":"2023-01-02T19:06:42","guid":{"rendered":"https:\/\/www.med.unc.edu\/genetics\/?p=12345"},"modified":"2023-01-02T14:06:42","modified_gmt":"2023-01-02T19:06:42","slug":"department-of-genetics-publications-for-december-18th-31st-2022","status":"publish","type":"post","link":"https:\/\/www.med.unc.edu\/genetics\/department-of-genetics-publications-for-december-18th-31st-2022\/","title":{"rendered":"Department of Genetics Publications for December 18th \u2013 31st, 2022"},"content":{"rendered":"

\"黑料网Department of Genetics faculty, postdocs, students and collaborators published 10 papers during December 18th<\/sup>\u00a0\u2013 31st<\/sup> 2022.<\/p>\n

 <\/p>\n

Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.\u00a0<\/a><\/p>\n

Li X, Quick C, Zhou H, Gaynor SM, Liu Y, Chen H, Selvaraj MS, Sun R, Dey R, Arnett DK, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Correa A, Cupples LA, Curran JE, de Vries PS, Duggirala R, Freedman BI, G\u00f6ring HHH, Guo X, Haessler J, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Manichaikul A, Martin LW, McGarvey ST, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O’Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM<\/strong>, Redline S, Reiner AP, Reupena MS, Rice KM, Rich SS, Sitlani CM, Smith JA, Taylor KD, Vasan RS, Willer CJ, Wilson JG, Yanek LR, Zhao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Lipids Working Group, Rotter JI, Natarajan P, Peloso GM, Li Z, Lin X.<\/p>\n

Nat Genet. 2022 Dec 23. doi: 10.1038\/s41588-022-01225-6. Online ahead of print.<\/p>\n

PMID:\u00a036564505<\/p>\n

 <\/p>\n

An epithelial-immune circuit amplifies inflammasome and IL-6 responses to SARS-CoV-2.\u00a0<\/a><\/p>\n

Barnett KC<\/strong>, Xie Y, Asakura T, Song D, Liang K, Taft-Benz SA, Guo H<\/strong>, Yang S<\/strong>, Okuda K, Gilmore RC, Loome JF, Oguin Iii TH, Sempowski GD, Randell SH, Heise MT<\/strong>, Lei YL, Boucher RC, Ting JP<\/strong>.<\/p>\n

Cell Host Microbe. 2022 Dec 9:S1931-3128(22)00577-7. doi: 10.1016\/j.chom.2022.12.005. Online ahead of print.<\/p>\n

PMID:\u00a036563691<\/p>\n

 <\/p>\n

HIV integration in the human brain is linked to microglial activation and 3D genome remodeling.\u00a0<\/a><\/p>\n

Plaza-Jennings AL, Valada A, O’Shea C, Iskhakova M, Hu B<\/strong>, Javidfar B, Ben Hutta G, Lambert TY, Murray J, Kassim B, Chandrasekaran S, Chen BK, Morgello S, Won H<\/strong>, Akbarian S.<\/p>\n

Mol Cell. 2022 Dec 15;82(24):4647-4663.e8. doi: 10.1016\/j.molcel.2022.11.016.<\/p>\n

PMID:\u00a036525955<\/p>\n

 <\/p>\n

The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).\u00a0<\/a><\/p>\n

Tayeh MK, Chen M, Fullerton SM, Gonzales PR, Huang SJ, Massingham LJ, O’Daniel JM<\/strong>, Stewart DR, Stiles AR, Evans BJ; ACMG Laboratory Quality Assurance Committee and the ACMG Social, Ethical and Legal Issues Committee. Electronic address:\u00a0documents@acmg.net<\/a>.<\/p>\n

Genet Med. 2022 Dec 20:100342. doi: 10.1016\/j.gim.2022.11.010. Online ahead of print.<\/p>\n

PMID:\u00a036547466\u00a0No abstract available.<\/p>\n

 <\/p>\n

Characterization of Antibodies against Receptor Activity-Modifying Protein 1 (RAMP1): A Cautionary Tale.\u00a0<\/a><\/p>\n

Hendrikse ER, Rees TA, Tasma Z, Garelja ML, Siow A, Harris PWR, Pawlak JB, Caron KM<\/strong>, Blakeney ES, Russo AF, Sowers LP, Lutz TA, Le Foll C, Walker CS, Hay DL.<\/p>\n

Int J Mol Sci. 2022 Dec 16;23(24):16035. doi: 10.3390\/ijms232416035.<\/p>\n

PMID:\u00a036555690<\/p>\n

 <\/p>\n

Rare genetic variation and outcome of surgery for mesial temporal lobe epilepsy.\u00a0<\/a><\/p>\n

Perucca P, Stanley K, Harris N, McIntosh AM, Asadi-Pooya AA, Mikati MA, Andrade DM, Dugan P, Depondt C, Choi H, Heinzen EL<\/strong>, Cavalleri GL, Buono RJ, Devinsky O, Sperling MR, Berkovic SF, Delanty N, Goldstein DB, O’Brien TJ; EPIGEN Consortium.<\/p>\n

Ann Neurol. 2022 Dec 19. doi: 10.1002\/ana.26581. Online ahead of print.<\/p>\n

PMID:\u00a036534060<\/p>\n

 <\/p>\n

An open access, machine learning pipeline for high-throughput quantification of cell morphology.\u00a0<\/a><\/p>\n

Welter EM, Kosyk O, Zannas AS.<\/strong><\/p>\n

STAR Protoc. 2022 Dec 15;4(1):101947. doi: 10.1016\/j.xpro.2022.101947. Online ahead of print.<\/p>\n

PMID:\u00a036527712<\/p>\n

 <\/p>\n

HER2DX ERBB2 mRNA expression in advanced HER2-positive breast cancer treated with T-DM1.\u00a0<\/a><\/p>\n

Bras\u00f3-Maristany F, Griguolo G, Chic N, Pascual T, Par\u00e9 L, Maues J, Galv\u00e1n P, Dieci MV, Miglietta F, Giarratano T, Mart\u00ednez-S\u00e1ez O, Mar\u00edn-Aguilera M, Schettini F, Conte B, Angelats L, Vidal M, Adamo B, Mu\u00f1oz M, Sanfeliu E, Gonz\u00e1lez B, Vivancos A, Villagrasa P, Parker JS, Perou CM<\/strong>, Conte P, Prat A, Guarneri V.<\/p>\n

J Natl Cancer Inst. 2022 Dec 28:djac227. doi: 10.1093\/jnci\/djac227. Online ahead of print.<\/p>\n

PMID:\u00a036576009<\/p>\n

 <\/p>\n

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.\u00a0<\/a><\/p>\n

Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Wood AR, Ji Y, Gao Z, Haworth S, Yousri NA, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Hwu CM, Hung YJ, Warren HR, Ramirez J, Bork-Jensen J, K\u00e5rhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, M\u00f8llehave LT, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesloot TE, Bradfield JP, Ruotsalainen SE, Daw E, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Vazquez-Moreno M, Feitosa MF, Wojczynski MK, Wang Z, Preuss MH, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Tsao NL, Verma A, Slieker RC, Lo KS, Zilhao NR, Le P, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Demirkan A, Leonard HL, Marten J, Frank M, Schmidt B, Smyth LJ, Ca\u00f1adas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-K\u00e4h\u00f6nen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Nongmaithem SS, Bayyana S, Stringham HM, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Prasad G, Lor\u00e9s-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Chen S, Liu F, Yang J, Kentistou KA, Banas B, Nardone GG, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Concas MP, Vaccargiu S, van der Most PJ, Pitk\u00e4nen N, Cade BE, van der Laan SW, Chitrala KN, Weiss S, Bentley AR, Doumatey AP, Adeyemo AA, Lee JY, Petersen ERB, Nielsen AA, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytik\u00e4inen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hidalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, Li X, Liang J, Tang H, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Kawaguchi T, Thiery J, Bis JC, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, J\u00e4ger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, K\u00e4h\u00f6nen M, P\u00e9russe L, Bouchard C, T\u00f6njes A, Chen YI, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellstr\u00f6m D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Zimmermann ME, V\u00f6lzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Bandinelli S, Dedoussis G, Thanaraj TA, Kardia SLR, Peyser PA, Kato N, Schulze MB, Girotto G, B\u00f6ger CA, Jung B, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Tusi\u00e9-Luna T, Aguilar-Salinas CA, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, Nelson AE, Golightly YM, Wilson JF, Penninx B, Kim HL, Attia J, Scott RJ, Rao DC, Arnett DK, Hunt SC, Walker M, Koistinen HA, Chandak GR, Mercader JM, Costanzo MC, Jang D, Burtt NP, Villalpando CG, Orozco L, Fornage M, Tai E, van Dam RM, Lehtim\u00e4ki T, Chaturvedi N, Yokota M, Liu J, Reilly DF, McKnight AJ, Kee F, J\u00f6ckel KH, McCarthy MI, Palmer CNA, Vitart V, Hayward C, Simonsick E, van Duijn CM, Jin ZB, Qu J, Hishigaki H, Lin X, M\u00e4rz W, Gudnason V, Tardif JC, Lettre G, Hart LM’, Elders PJM, Damrauer SM, Kumari M, Kivimaki M, van der Harst P, Spector TD, Loos RJF, Province MA, Parra EJ, Cruz M, Psaty BM, Brandslund I, Pramstaller PP, Rotimi CN, Christensen K, Ripatti S, Wid\u00e9n E, Hakonarson H, Grant SFA, Kiemeney LALM, de Graaf J, Loeffler M, Kronenberg F, Gu D, Erdmann J, Schunkert H, Franks PW, Linneberg A, Jukema JW, Khera AV, M\u00e4nnikk\u00f6 M, Jarvelin MR, Kutalik Z, Francesco C, Mook-Kanamori DO, van Dijk KW, Watkins H, Strachan DP, Grarup N, Sever P, Poulter N, Chuang LM, Rotter JI, Dantoft TM, Karpe F, Neville MJ, Timpson NJ, Cheng CY, Wong TY, Khor CC, Li H, Sabanayagam C, Peters A, Gieger C, Hattersley AT, Pedersen NL, Magnusson PKE, Boomsma DI, Willemsen AHM, Cupples L, van Meurs JBJ, Ghanbari M, Gordon-Larsen P, Huang W, Kim YJ, Tabara Y, Wareham NJ, Langenberg C, Zeggini E, Kuusisto J, Laakso M, Ingelsson E, Abecasis G, Chambers JC, Kooner JS, de Vries PS, Morrison AC, Hazelhurst S, Ramsay M, North KE, Daviglus M, Kraft P, Martin NG, Whitfield JB, Abbas S, Saleheen D, Walters RG, Holmes MV, Black C, Smith BH, Baras A, Justice AE, Buring JE, Ridker PM, Chasman DI, Kooperberg C, Tamiya G, Yamamoto M, van Heel DA, Trembath RC, Wei WQ, Jarvik GP, Namjou B, Hayes MG, Ritchie MD, Jousilahti P, Salomaa V, Hveem K, \u00c5svold BO, Kubo M, Kamatani Y, Okada Y, Murakami Y, Kim BJ, Thorsteinsdottir U, Stefansson K, Zhang J, Chen Y, Ho YL, Lynch JA, Rader DJ, Tsao PS, Chang KM, Cho K, O’Donnell CJ, Gaziano JM, Wilson PWF, Frayling TM, Hirschhorn JN, Kathiresan S, Mohlke KL<\/strong>, Sun YV, Morris AP, Boehnke M, Brown CD, Natarajan P, Deloukas P, Willer CJ, Assimes TL, Peloso GM.<\/p>\n

Genome Biol. 2022 Dec 27;23(1):268. doi: 10.1186\/s13059-022-02837-1.<\/p>\n

PMID:\u00a036575460\u00a0Free PMC article.<\/strong><\/p>\n

 <\/p>\n

Forward genetic screen of homeostatic antibody levels in the Collaborative Cross identifies MBD1 as a novel regulator of B cell homeostasis.\u00a0<\/a><\/p>\n

Hampton BK, Plante KS, Whitmore AC, Linnertz CL, Madden EA, Noll KE, Boyson SP, Parotti B, Xenakis JG, Bell TA, Hock P, Shaw GD, de Villena FP, Ferris MT, Heise MT.<\/strong><\/p>\n

PLoS Genet. 2022 Dec 27;18(12):e1010548. doi: 10.1371\/journal.pgen.1010548. Online ahead of print.<\/p>\n

PMID:\u00a036574452<\/p>\n","protected":false},"excerpt":{"rendered":"

Department of Genetics faculty, postdocs, students and collaborators published 10 papers during December 18th\u00a0\u2013 31st, 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