Department of Genetics faculty, postdocs, students and collaborators published 17 papers during June 27 – July 10, 2021.
Franks PW, Melén E, Friedman M, Sundström J, Kockum I, Klareskog L, Almqvist C, Bergen SE, Czene K, Hägg S, Hall P, Johnell K, Malarstig A, Catrina A, Hagström H, Benson M, Gustav Smith J, Gomez MF, Orho-Melander M, Jacobsson B, Halfvarson J, Repsilber D, Oresic M, Jern C, Melin B, Ohlsson C, Fall T, Rönnblom L, Wadelius M, Nordmark G, Johansson Å, Rosenquist R, Sullivan PF.
J Intern Med. 2021 Jul 2. doi: 10.1111/joim.13330. Online ahead of print.
PMID: 34213793 Review.
Increased colonic expression of ACE2 associates with poor prognosis in Crohn’s disease.
Toyonaga T, Araba KC, Kennedy MM, Keith BP, Wolber EA, Beasley C, Steinbach EC, Schaner MR, Jain A, Long MD, Barnes EL, Herfarth HH, Isaacs KL, Hansen JJ, Kapadia MR, Guillem JG, Gulati AS, Sethupathy P, Furey TS, Ehre C, Sheikh SZ.
Sci Rep. 2021 Jun 29;11(1):13533. doi: 10.1038/s41598-021-92979-2.
PMID: 34188154
Clinical and genomic assessment of PD-L1 SP142 expression in triple-negative breast cancer.
Ahn SG, Kim SK, Shepherd JH, Cha YJ, Bae SJ, Kim C, Jeong J, Perou CM.
Breast Cancer Res Treat. 2021 Jul;188(1):165-178. doi: 10.1007/s10549-021-06193-9. Epub 2021 Mar 26.
PMID: 33770313
Regulatory landscape in brain development and disease.
Spiess K, Won H.
Curr Opin Genet Dev. 2020 Dec;65:53-60. doi: 10.1016/j.gde.2020.05.007. Epub 2020 Jun 18.
PMID: 32563855 Review.
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium, Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN.
Nat Genet. 2021 Jul 1. doi: 10.1038/s41588-021-00886-z. Online ahead of print.
PMID: 34211179
Supplemental Association of Clonal Hematopoiesis With Incident Heart Failure.
Yu B, Roberts MB, Raffield LM, Zekavat SM, Nguyen NQH, Biggs ML, Brown MR, Griffin G, Desai P, Correa A, Morrison AC, Shah AM, Niroula A, Uddin MM, Honigberg MC, Ebert BL, Psaty BM, Whitsel EA, Manson JE, Kooperberg C, Bick AG, Ballantyne CM, Reiner AP, Natarajan P, Eaton CB; National Heart, Lung, and Blood Institute TOPMed Consortium.
J Am Coll Cardiol. 2021 Jul 6;78(1):42-52. doi: 10.1016/j.jacc.2021.04.085.
PMID: 34210413
Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging.
McCartney DL, Min JL, Richmond RC, Lu AT, Sobczyk MK, Davies G, Broer L, Guo X, Jeong A, Jung J, Kasela S, Katrinli S, Kuo PL, Matias-Garcia PR, Mishra PP, Nygaard M, Palviainen T, Patki A, Raffield LM, Ratliff SM, Richardson TG, Robinson O, Soerensen M, Sun D, Tsai PC, van der Zee MD, Walker RM, Wang X, Wang Y, Xia R, Xu Z, Yao J, Zhao W, Correa A, Boerwinkle E, Dugué PA, Durda P, Elliott HR, Gieger C; Genetics of DNA Methylation Consortium, de Geus EJC, Harris SE, Hemani G, Imboden M, Kähönen M, Kardia SLR, Kresovich JK, Li S, Lunetta KL, Mangino M, Mason D, McIntosh AM, Mengel-From J, Moore AZ, Murabito JM; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Ollikainen M, Pankow JS, Pedersen NL, Peters A, Polidoro S, Porteous DJ, Raitakari O, Rich SS, Sandler DP, Sillanpää E, Smith AK, Southey MC, Strauch K, Tiwari H, Tanaka T, Tillin T, Uitterlinden AG, Van Den Berg DJ, van Dongen J, Wilson JG, Wright J, Yet I, Arnett D, Bandinelli S, Bell JT, Binder AM, Boomsma DI, Chen W, Christensen K, Conneely KN, Elliott P, Ferrucci L, Fornage M, Hägg S, Hayward C, Irvin M, Kaprio J, Lawlor DA, Lehtimäki T, Lohoff FW, Milani L, Milne RL, Probst-Hensch N, Reiner AP, Ritz B, Rotter JI, Smith JA, Taylor JA, van Meurs JBJ, Vineis P, Waldenberger M, Deary IJ, Relton CL, Horvath S, Marioni RE.
Genome Biol. 2021 Jun 29;22(1):194. doi: 10.1186/s13059-021-02398-9.
PMID: 34187551 Free PMC article.
Exome sequencing in obsessive-compulsive disorder reveals a burden of rare damaging coding variants.
Halvorsen M, Samuels J, Wang Y, Greenberg BD, Fyer AJ, McCracken JT, Geller DA, Knowles JA, Zoghbi AW, Pottinger TD, Grados MA, Riddle MA, Bienvenu OJ, Nestadt PS, Krasnow J, Goes FS, Maher B, Nestadt G, Goldstein DB.
Nat Neurosci. 2021 Jun 28. doi: 10.1038/s41593-021-00876-8. Online ahead of print.
PMID: 34183866
Hieronymus K, Dorschner B, Schulze F, Vora NL, Parker JS, Winkler JL, Rösen-Wolff A, Winkler S.
BMC Genomics. 2021 Jun 30;22(1):489. doi: 10.1186/s12864-021-07801-0.
PMID: 34193041
Somatic variants in epilepsy – advancing gene discovery and disease mechanisms.
Heinzen EL.
Curr Opin Genet Dev. 2020 Dec;65:1-7. doi: 10.1016/j.gde.2020.04.004. Epub 2020 May 15.
PMID: 32422520 Review.
Do WL, Whitsel EA, Costeira R, Masachs OM, Le Roy CI, Bell JT, Staimez LR, Stein AD, Smith AK, Horvath S, Assimes TL, Liu S, Manson JE, Shadyab AH, Li Y, Hou L, Bhatti P, Jordahl K, Narayan KMV, Conneely KN.
Int J Epidemiol. 2021 May 17;50(2):675-684. doi: 10.1093/ije/dyaa215.
PMID: 33354722
Lu Y, Dimitrov L, Chen SH, Bielak LF, Bis JC, Feitosa MF, Lu L, Kavousi M, Raffield LM, Smith AV, Wang L, Weiss S, Yao J, Zhu J, Gudmundsson EF, Gudmundsdottir V, Bos D, Ghanbari M, Ikram MA, Hwang SJ, Taylor KD, Budoff MJ, Gíslason GK, O’Donnell CJ, An P, Franceschini N, Freedman BI, Fu YP, Guo X, Heiss G, Kardia SLR, Wilson JG, Langefeld CD, Schminke U, Uitterlinden AG, Lange LA, Peyser PA, Gudnason VG, Psaty BM, Rotter JI, Bowden DW, Ng MCY.
Circ Genom Precis Med. 2021 Jul 9. doi: 10.1161/CIRCGEN.120.003258. Online ahead of print.
PMID: 34241534
Evolution of Polymyxin Resistance Regulates Colibactin Production in Escherichia coli.
Sadecki PW, Balboa SJ, Lopez LR, Kedziora KM, Arthur JC, Hicks LM.
ACS Chem Biol. 2021 Jul 7. doi: 10.1021/acschembio.1c00322. Online ahead of print.
PMID: 34232632
Large trans-ethnic meta-analysis identifies AKR1C4 as a novel gene associated with age at menarche.
Sarnowski C, Cousminer DL, Franceschini N, Raffield LM, Jia G, Fernández-Rhodes L, Grant SFA, Hakonarson H, Lange LA, Long J, Sofer T, Tao R, Wallace RB, Wong Q, Zirpoli G, Boerwinkle E, Bradfield JP, Correa A, Kooperberg CL, North KE, Palmer JR, Zemel BS, Zheng W, Murabito JM, Lunetta KL.
Hum Reprod. 2021 Jun 18;36(7):1999-2010. doi: 10.1093/humrep/deab086.
PMID: 34021356
Xu C, Tsai YH, Galbo PM, Gong W, Storey AJ, Xu Y, Byrum SD, Xu L, Whang YE, Parker JS, Mackintosh SG, Edmondson RD, Tackett AJ, Huang J, Zheng D, Earp HS, Wang GG, Cai L.
Nucleic Acids Res. 2021 May 21;49(9):4971-4988. doi: 10.1093/nar/gkab252.
PMID: 33849067 Free PMC article.
Bean LJH, Scheuner MT, Murray MF, Biesecker LG, Green RC, Monaghan KG, Palomaki GE, Sharp RR, Trotter TL, Watson MS, Powell CM; ACMG Board of Directors.
Genet Med. 2021 Jun;23(6):979-988. doi: 10.1038/s41436-020-01083-9. Epub 2021 Mar 31.
PMID: 33790423 No abstract available.
Miller BR, Morse AM, Borgert JE, Liu Z, Sinclair K, Gamble G, Zou F, Newman JRB, León-Novelo LG, Marroni F, McIntyre LM.
G3 (Bethesda). 2021 May 7;11(5):jkab096. doi: 10.1093/g3journal/jkab096.
PMID: 33772539 Free PMC article.