Department of Genetics faculty, postdocs, students and collaborators published fifteen papers during Jan. 26 – Feb. 8, 2020.

 

HER2-enriched subtype and pathological complete response in HER2-positive breast cancer: A systematic review and meta-analysis.
Schettini F, Pascual T, Conte B, Chic N, Brasó-Maristany F, Galván P, Martínez O, Adamo B, Vidal M, Muñoz M, Fernández-Martinez A, Rognoni C, Griguolo G, Guarneri V, Conte PF, Locci M, Brase JC, Gonzalez-Farre B, Villagrasa P, De Placido S, Schiff R, Veeraraghavan J, Rimawi MF, Osborne CK, Pernas S, Perou CM, Carey LA, Prat A.
Cancer Treat Rev. 2020 Jan 17;84:101965. doi: 10.1016/j.ctrv.2020.101965. [Epub ahead of print] Review.
PMID: 32000054

 

Virus expression detection reveals RNA-sequencing contamination in TCGA.
Selitsky SR, Marron D, Hollern D, Mose LE, Hoadley KA, Jones C, Parker JS, Dittmer DP, Perou CM.
BMC Genomics. 2020 Jan 28;21(1):79. doi: 10.1186/s12864-020-6483-6.
PMID: 31992194

 

Mapping Alzheimer’s Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration.
Matoba N, Quiroga IY, Phanstiel DH, Won H.
J Vis Exp. 2020 Jan 9;(155). doi: 10.3791/60428.
PMID: 31984958

 

Open Chromatin Profiling in Adipose Tissue Marks Genomic Regions with Functional Roles in Cardiometabolic Traits.
Cannon ME, Currin KW, Young KL, Perrin HJ, Vadlamudi S, Safi A, Song L, Wu Y, Wabitsch M, Laakso M, Crawford GE, Mohlke KL.
G3 (Bethesda). 2019 Aug 8;9(8):2521-2533. doi: 10.1534/g3.119.400294.
PMID: 31186305

 

Author Correction: Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk.
Jansen IE, Savage JE, Watanabe K, Bryois J, Williams DM, Steinberg S, Sealock J, Karlsson IK, Hägg S, Athanasiu L, Voyle N, Proitsi P, Witoelar A, Stringer S, Aarsland D, Almdahl IS, Andersen F, Bergh S, Bettella F, Bjornsson S, Brækhus A, Bråthen G, de Leeuw C, Desikan RS, Djurovic S, Dumitrescu L, Fladby T, Hohman TJ, Jonsson PV, Kiddle SJ, Rongve A, Saltvedt I, Sando SB, Selbæk G, Shoai M, Skene NG, Snaedal J, Stordal E, Ulstein ID, Wang Y, White LR, Hardy J, Hjerling-Leffler J, Sullivan PF, van der Flier WM, Dobson R, Davis LK, Stefansson H, Stefansson K, Pedersen NL, Ripke S, Andreassen OA, Posthuma D.
Nat Genet. 2020 Feb 6. doi: 10.1038/s41588-019-0573-x. [Epub ahead of print]
PMID: 32029921

 

Common genetic substrates of alcohol and substance use disorder severity revealed by pleiotropy detection against GWAS catalog in two populations.
Peng Q, Wilhelmsen KC, Ehlers CL.
Addict Biol. 2020 Feb 6:e12877. doi: 10.1111/adb.12877. [Epub ahead of print]
PMID: 3202707

 

B cell-Derived IL35 Drives STAT3-Dependent CD8<sup>+</sup> T-cell Exclusion in Pancreatic Cancer.
Mirlekar B, Michaud D, Lee SJ, Kren NP, Harris C, Greene K, Goldman EC, Gupta GP, Fields RC, Hawkins WG, DeNardo DG, Rashid NU, Yeh JJ, McRee AJ, Vincent BG, Vignali DAA, Pylayeva-Gupta Y.
Cancer Immunol Res. 2020 Feb 5. doi: 10.1158/2326-6066.CIR-19-0349. [Epub ahead of print]
PMID: 32024640

 

Interleukin-23 engineering improves CAR T cell function in solid tumors.
Ma X, Shou P, Smith C, Chen Y, Du H, Sun C, Porterfield Kren N, Michaud D, Ahn S, Vincent B, Savoldo B, Pylayeva-Gupta Y, Zhang S, Dotti G, Xu Y.
Nat Biotechnol. 2020 Feb 3. doi: 10.1038/s41587-019-0398-2. [Epub ahead of print]
PMID: 32015548

 

PHF19 promotes multiple myeloma tumorigenicity through PRC2 activation and broad H3K27me3 domain formation.
Ren Z, Ahn JH, Liu H, Tsai YH, Bhanu NV, Koss B, Allison DF, Ma A, Storey AJ, Wang P, Mackintosh SG, Edmondson RD, Groen RWJ, Martens AC, Garcia BA, Tackett AJ, Jin J, Cai L, Zheng D, Wang GG.
Blood. 2019 Oct 3;134(14):1176-1189. doi: 10.1182/blood.2019000578. Epub 2019 Aug 5.
PMID: 31383640

 

A myelin-related transcriptomic profile is shared by Pitt-Hopkins syndrome models and human autism spectrum disorder.
Phan BN, Bohlen JF, Davis BA, Ye Z, Chen HY, Mayfield B, Sripathy SR, Cerceo Page S, Campbell MN, Smith HL, Gallop D, Kim H, Thaxton CL, Simon JM, Burke EE, Shin JH, Kennedy AJ, Sweatt JD, Philpot BD, Jaffe AE, Maher BJ.
Nat Neurosci. 2020 Feb 3. doi: 10.1038/s41593-019-0578-x. [Epub ahead of print]
PMID: 32015540

 

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
Wagner M, Skorobogatko Y, Pode-Shakked B, Powell CM, Alhaddad B, Seibt A, Barel O, Heimer G, Hoffmann C, Demmer LA, Perilla-Young Y, Remke M, Wieczorek D, Navaratnarajah T, Lichtner P, Klee D, Shamseldin HE, Al Mutairi F, Mayatepek E, Strom T, Meitinger T, Alkuraya FS, Anikster Y, Saltiel AR, Distelmaier F.
Am J Hum Genet. 2020 Jan 25. pii: S0002-9297(20)30002-1. doi: 10.1016/j.ajhg.2020.01.002. [Epub ahead of print]
PMID: 32004447

 

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.
Lee S, Clinard K, Young SP, Rehder CW, Fan Z, Calikoglu AS, Bali DS, Bailey DB Jr, Gehtland LM, Millington DS, Patel HS, Beckloff SE, Zimmerman SJ, Powell CM, Taylor JL.
JAMA Netw Open. 2020 Jan 3;3(1):e1920356. doi: 10.1001/jamanetworkopen.2019.20356.
PMID: 32003821

 

Author Correction: Notch signaling pathway is a potential therapeutic target for extracranial vascular malformations.
Davis RB, Pahl K, Datto NC, Smith SV, Shawber C, Caron KM, Blatt J.
Sci Rep. 2020 Jan 30;10(1):1847. doi: 10.1038/s41598-020-58751-8.
PMID: 31996757

 

Proficiency Testing of Standardized Samples Shows High Interlaboratory Agreement for Clinical Next Generation Sequencing-Based Hematologic Malignancy Assays With Survey Material-Specific Differences in Variant Frequencies.
Keegan A, Bridge JA, Lindeman NI, Long TA, Merker JD, Moncur JT, Montgomery ND, Nagarajan R, Rothberg PG, Routbort MJ, Vasalos P, Xian R, Kim AS.
Arch Pathol Lab Med. 2020 Jan 27. doi: 10.5858/arpa.2019-0352-CP. [Epub ahead of print]
PMID: 31986076

 

Genome-wide Screening Identifies SFMBT1 as an Oncogenic Driver in Cancer with VHL Loss.
Liu X, Simon JM, Xie H, Hu L, Wang J, Zurlo G, Fan C, Ptacek TS, Herring L, Tan X, Li M, Baldwin AS, Kim WY, Wu T, Kirschner MW, Gong K, Zhang Q.
Mol Cell. 2020 Jan 29. pii: S1097-2765(20)30009-5. doi: 10.1016/j.molcel.2020.01.009. [Epub ahead of print]
PMID: 32023483