Publications
The Bioinformatics Lab works closely with researchers on a range of projects that utilize bioinformatics and biostatistics. Our partnerships have resulted in numerous publications in prominent journals.
Zhou Z, Ku HC, Manning SE, Zhang M, Xing C. A Varying Coefficient Model to Jointly Test Genetic and Gene-Environment Interaction Effects. Behav Genet. 2023 Jan 9. doi: 10.1007/s10519-022-10131-w. Online ahead of print.; PubMed PMID: 36622576
Gillings M, Mastro A, Zhang X, Kiser K, Gu J, Xing C, Robertson DM, Petroll WM, Mootha VV. Loss of Corneal Nerves and Corneal Haze in Patients with Fuchs' Endothelial Corneal Dystrophy with the Transcription Factor 4 Gene Trinucleotide Repeat Expansion. Ophthalmol Sci. 2023 Mar; 3(1):100214. doi: 10.1016/j.xops.2022.100214. eCollection 2023 Mar.; PubMed PMID: 36275201; PubMed Central PMCID: PMC9563205
Bhalla P, Du Q, Kumar A, Xing C, Moses A, Dozmorov I, Wysocki CA, Cleaver OB, Pirolli TJ, Markert ML, de la Morena MT, Baldini A, van Oers NS. Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome. J Clin Invest. 2022 Nov 15;132(22):e160101. doi: 10.1172/JCI160101.; PubMed PMID: 36136514; PubMed Central PMCID: PMC9663160
Carroll DJ, Burns MWN, Mottram L, Propheter DC, Boucher A, Lessen GM, Kumar A, Malaker SA, Xing C, Hooper LV, Yrlid U, Kohler JJ. Interleukin-22 regulates B3GNT7 expression to induce fucosylation of glycoproteins in intestinal epithelial cells. J Biol Chem. 2022 Feb;298(2):101463. doi: 10.1016/j.jbc.2021.101463. Epub 2021 Dec 2.; PubMed PMID: 34864058; PubMed Central PMCID: PMC8808068
Cheng N, Li G, Kanchwala M, Evers BM, Xing C, Yu H. STAG2 promotes the myelination transcriptional program in oligodendrocytes. Elife. 2022 Aug 12;11:e77848. doi: 10.7554/eLife.77848.; PubMed PMID: 35959892; PubMed Central PMCID: PMC9439679
Clark AE, Wang Z, Ostman E, Zheng H, Yao H, Cantarel B, Kanchwala M, Xing C, Chen L, Irwin P, Xu Y, Oliver D, Lee FM, Gagan JR, Filkins L, Muthukumar A, Park JY, Sarode R, SoRelle JA. Multiplex Fragment Analysis for Flexible Detection of All SARS-CoV-2 Variants of Concern. Clin Chem. 2022 Jul 27;68(8):1042-1052. doi: 10.1093/clinchem/hvac081.; PubMed PMID: 35616102; PubMed Central PMCID: PMC9384161
Costa S, Sampaio L, Berta Sousa A, Xing C, Agarwal AK, Garg A. Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2022 Aug 18;107(9):2433-2438. doi: 10.1210/clinem/dgac406.; PubMed PMID: 35857714; PubMed Central PMCID: PMC9387702
Galal MW, Ahmed M, Shao Y, Xing C, Ali W, Baly AE, Elfiky A, Amer K, Schoggins J, Sadek HA, Gobara ZN. The Use of Mebendazole in COVID-19 Patients: An Observational Retrospective Single Center Study. Adv Virol. 2022 Dec 10;2022:3014686. doi: 10.1155/2022/3014686. eCollection 2022.; PubMed PMID: 36536779; PubMed Central PMCID: PMC9759380
Garg A, Keng WT, Chen Z, Sathe AA, Xing C, Kailasam PD, Shao Y, Lesner NP, Llamas CB, Agarwal AK, Mishra P. Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant. J Clin Invest. 2022 Dec 1;132(23):e156864. doi: 10.1172/JCI156864.; PubMed PMID: 36282599; PubMed Central PMCID: PMC9711873
Guo G, Gong K, Beckley N, Zhang Y, Yang X, Chkheidze R, Hatanpaa KJ, Garzon-Muvdi T, Koduru P, Nayab A, Jenks J, Sathe AA, Liu Y, Xing C, Wu SY, Chiang CM, Mukherjee B, Burma S, Wohlfeld B, Patel T, Mickey B, Abdullah K, Youssef M, Pan E, Gerber DE, Tian S, Sarkaria JN, McBrayer SK, Zhao D, Habib AA. EGFR ligand shifts the role of EGFR from oncogene to tumour suppressor in EGFR-amplified glioblastoma by suppressing invasion through BIN3 upregulation. Nat Cell Biol. 2022 Aug;24(8):1291-1305. doi: 10.1038/s41556-022-00962-4. Epub 2022 Aug 1.; PubMed PMID: 35915159; PubMed Central PMCID: PMC9389625; NIHMSID: NIHMS1824714
Hernandez PA, Moreno M, Barati Z, Hutcherson C, Sathe AA, Xing C, Wright J, Welch T, Dhaher Y. Sexual Dimorphism in the Extracellular and Pericellular Matrix of Articular Cartilage. Cartilage. 2022 Jul-Sep;13(3):19476035221121792. doi: 10.1177/19476035221121792.; PubMed PMID: 36069595; PubMed Central PMCID: PMC9459468
Jain MK, De Lemos JA, McGuire DK, Ayers C, Eitson JL, Sanchez CL, Kamel D, Meisner JA, Thomas EV, Hegde AA, Mocherla S, Strebe JK, Li X, Williams NS, Xing C, Ahmed MS, Wang P, Sadek HA, Schoggins JW. Atovaquone for treatment of COVID-19: A prospective randomized, double-blind, placebo-controlled clinical trial. Front Pharmacol. 2022 Sep 30;13:1020123. doi: 10.3389/fphar.2022.1020123. eCollection 2022.; PubMed PMID: 36249792; PubMed Central PMCID: PMC9561237
Li H, Wu BK, Kanchwala M, Cai J, Wang L, Xing C, Zheng Y, Pan D. YAP/TAZ drives cell proliferation and tumour growth via a polyamine-eIF5A hypusination-LSD1 axis. Nat Cell Biol. 2022 Mar;24(3):373-383. doi: 10.1038/s41556-022-00848-5. Epub 2022 Feb 17.; PubMed PMID: 35177822; PubMed Central PMCID: PMC8930503; NIHMSID: NIHMS1771507
Liu Y, Sathe AA, Abdullah KG, McBrayer SK, Adams SH, Brenner AJ, Hatanpaa KJ, Viapiano MS, Xing C, Walker JM, Richardson TE. Global DNA methylation profiling reveals chromosomal instability in IDH-mutant astrocytomas. Acta Neuropathol Commun. 2022 Mar 9;10(1):32. doi: 10.1186/s40478-022-01339-2.; PubMed PMID: 35264242; PubMed Central PMCID: PMC8908645
Luo M, Bao L, Chen Y, Xue Y, Wang Y, Zhang B, Wang C, Corley CD, McDonald JG, Kumar A, Xing C, Fang Y, Nelson ER, Wang JE, Wang Y, Luo W. ZMYND8 is a master regulator of 27-hydroxycholesterol that promotes tumorigenicity of breast cancer stem cells. Sci Adv. 2022 Jul 15;8(28):eabn5295. doi: 10.1126/sciadv.abn5295. Epub 2022 Jul 15.; PubMed PMID: 35857506; PubMed Central PMCID: PMC9286501
Mancina RM, Sasidharan K, Lindblom A, Wei Y, Ciociola E, Jamialahmadi O, Pingitore P, Andréasson AC, Pellegrini G, Baselli G, Männistö V, Pihlajamäki J, Kärjä V, Grimaudo S, Marini I, Maggioni M, Becattini B, Tavaglione F, Dix C, Castaldo M, Klein S, Perelis M, Pattou F, Thuillier D, Raverdy V, Dongiovanni P, Fracanzani AL, Stickel F, Hampe J, Buch S, Luukkonen PK, Prati D, Yki-Järvinen H, Petta S, Xing C, Schafmayer C, Aigner E, Datz C, Lee RG, Valenti L, Lindén D, Romeo S. PSD3 downregulation confers protection against fatty liver disease. Nat Metab. 2022 Jan;4(1):60-75. doi: 10.1038/s42255-021-00518-0. Epub 2022 Jan 31.; PubMed PMID: 35102341; PubMed Central PMCID: PMC8803605
Neugent ML, Kumar A, Hulyalkar NV, Lutz KC, Nguyen VH, Fuentes JL, Zhang C, Nguyen A, Sharon BM, Kuprasertkul A, Arute AP, Ebrahimzadeh T, Natesan N, Xing C, Shulaev V, Li Q, Zimmern PE, Palmer KL, De Nisco NJ. Recurrent urinary tract infection and estrogen shape the taxonomic ecology and function of the postmenopausal urogenital microbiome. Cell Rep Med. 2022 Oct 18;3(10):100753. doi: 10.1016/j.xcrm.2022.100753. Epub 2022 Sep 30.; PubMed PMID: 36182683; PubMed Central PMCID: PMC9588997
Pana TA, Savla J, Kepinski I, Fairbourn A, Afzal A, Mammen P, Drazner M, Subramaniam RM, Xing C, Morton KA, Drakos SG, Zaha VG, Sadek HA. Bidirectional Changes in Myocardial (18)F-Fluorodeoxyglucose Uptake After Human Ventricular Unloading. Circulation. 2022 Jan 11;145(2):151-154. doi: 10.1161/CIRCULATIONAHA.121.056278. Epub 2022 Jan 10.; PubMed PMID: 35007159
Phillips JE, Santos M, Konchwala M, Xing C, Pan D. Genome editing in the unicellular holozoan Capsaspora owczarzaki suggests a premetazoan role for the Hippo pathway in multicellular morphogenesis. Elife. 2022 Jun 6;11:e77598. doi: 10.7554/eLife.77598.; PubMed PMID: 35659869; PubMed Central PMCID: PMC9170242
Sahoo SS, Ramanand SG, Gao Y, Abbas A, Kumar A, Cuevas IC, Li HD, Aguilar M, Xing C, Mani RS, Castrillon DH. FOXA2 suppresses endometrial carcinogenesis and epithelial-mesenchymal transition by regulating enhancer activity. J Clin Invest. 2022 Jun 15;132(12):e157574. doi: 10.1172/JCI157574.; PubMed PMID: 35703180; PubMed Central PMCID: PMC9197528
Sivakumar S, Qi S, Cheng N, Sathe AA, Kanchwala M, Kumar A, Evers BM, Xing C, Yu H. TP53 promotes lineage commitment of human embryonic stem cells through ciliogenesis and sonic hedgehog signaling. Cell Rep. 2022 Feb 15;38(7):110395. doi: 10.1016/j.celrep.2022.110395.; PubMed PMID: 35172133; PubMed Central PMCID: PMC8904926; NIHMSID: NIHMS1781195
Tuncay IO, Parmalee NL, Khalil R, Kaur K, Kumar A, Jimale M, Howe JL, Goodspeed K, Evans P, Alzghoul L, Xing C, Scherer SW, Chahrour MH. Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants. NPJ Genom Med. 2022 Feb 21;7(1):13. doi: 10.1038/s41525-022-00284-2.; PubMed PMID: 35190550; PubMed Central PMCID: PMC8861044
Wang Y, Khandelwal N, Liu S, Zhou M, Bao L, Wang JE, Kumar A, Xing C, Gibson JR, Wang Y. KDM6B cooperates with Tau and regulates synaptic plasticity and cognition via inducing VGLUT1/2. Mol Psychiatry. 2022 Dec;27(12):5213-5226. doi: 10.1038/s41380-022-01750-0. Epub 2022 Aug 26.; PubMed PMID: 36028572
Willis KR, Sathe AA, Xing C, Koduru P, Artunduaga M, Butler EB, Park JY, Kurmasheva RT, Houghton PJ, Chen KS, Rakheja D. Extrarenal Anaplastic Wilms Tumor: A Case Report With Genomic Analysis and Tumor Models. J Pediatr Hematol Oncol. 2022 May 1;44(4):147-154. doi: 10.1097/MPH.0000000000002413. Epub 2022 Feb 4.; PubMed PMID: 35129140; PubMed Central PMCID: PMC9035038; NIHMSID: NIHMS1769562
Xu H, Zhang S, Sathe AA, Jin Z, Guan J, Sun W, Xing C, Zhang H, Yan B. CCR2(+) Macrophages Promote Orthodontic Tooth Movement and Alveolar Bone Remodeling. Front Immunol. 2022 Feb 4;13:835986. doi: 10.3389/fimmu.2022.835986. eCollection 2022.; PubMed PMID: 35185928; PubMed Central PMCID: PMC8854866
Yang M, Wang C, Zhou M, Bao L, Wang Y, Kumar A, Xing C, Luo W, Wang Y. KDM6B promotes PARthanatos via suppression of O6-methylguanine DNA methyltransferase repair and sustained checkpoint response. Nucleic Acids Res. 2022 Jun 24;50(11):6313-6331. doi: 10.1093/nar/gkac471.; PubMed PMID: 35648484; PubMed Central PMCID: PMC9226499
Zechner C, Henne WM, Sathe AA, Xing C, Hernandez G, Sun S, Cheong MC. Cellular abundance of sodium phosphate cotransporter SLC20A1/PiT1 and phosphate uptake are controlled post-transcriptionally by ESCRT. J Biol Chem. 2022 Jun;298(6):101945. doi: 10.1016/j.jbc.2022.101945. Epub 2022 Apr 18.; PubMed PMID: 35447110; PubMed Central PMCID: PMC9123275
Xing C, Kanchwala M, Rios JJ, Hyatt T, Wang RC, Tran A, Dougherty I, Tovar-Garza A, Purnadi C, Kumar MG, Berk D, Shinawi M, Irvine AD, Toledo-Bahena M, Agim NG, Glass DA 2nd. Biallelic variants in RNU12 cause CDAGS syndrome. Hum Mutat. 2021 Aug;42(8):1042-1052. doi: 10.1002/humu.24239. Epub 2021 Jun 15.; PubMed PMID: 34085356
Brosseau JP, Sathe AA, Wang Y, Nguyen T, Glass DA 2nd, Xing C, Le LQ. Human cutaneous neurofibroma matrisome revealed by single-cell RNA sequencing. Acta Neuropathol Commun. 2021 Jan 7;9(1):11. doi: 10.1186/s40478-020-01103-4.; PubMed PMID: 33413690; PubMed Central PMCID: PMC7792184
Chen L, Bao L, Niu Y, Wang JE, Kumar A, Xing C, Wang Y, Luo W. LncIHAT Is Induced by Hypoxia-Inducible Factor 1 and Promotes Breast Cancer Progression. Mol Cancer Res. 2021 Apr;19(4):678-687. doi: 10.1158/1541-7786.MCR-20-0383. Epub 2020 Dec 30.; PubMed PMID: 33380467
Choi S, Sathe A, Mathé E, Xing C, Pan Z. Identification of a Putative Enhancer RNA for EGFR in Hyper-Accessible Regions in Esophageal Squamous Cell Carcinoma Cells by Analysis of Chromatin Accessibility Landscapes. Front Oncol. 2021 Oct 15;11:724687. doi: 10.3389/fonc.2021.724687. eCollection 2021.; PubMed PMID: 34722266; PubMed Central PMCID: PMC8554337
De Nisco NJ, Casey AK, Kanchwala M, Lafrance AE, Coskun FS, Kinch LN, Grishin NV, Xing C, Orth K. Manipulation of IRE1-Dependent MAPK Signaling by a Vibrio Agonist-Antagonist Effector Pair. mSystems. 2021 Feb 9;6(1):e00872-20. doi: 10.1128/mSystems.00872-20.; PubMed PMID: 33563785; PubMed Central PMCID: PMC7883537
Du J, Xiang Y, Liu H, Liu S, Kumar A, Xing C, Wang Z. RIPK1 dephosphorylation and kinase activation by PPP1R3G/PP1γ promote apoptosis and necroptosis. Nat Commun. 2021 Dec 3;12(1):7067. doi: 10.1038/s41467-021-27367-5.; PubMed PMID: 34862394; PubMed Central PMCID: PMC8642546
Jakubowski B, Shao Y, McNeal C, Xing C, Ahmad Z. Monogenic and polygenic causes of low and extremely low LDL-C levels in patients referred to specialty lipid clinics: Genetics of low LDL-C. J Clin Lipidol. 2021 Sep-Oct;15(5):658-664. doi: 10.1016/j.jacl.2021.07.003. Epub 2021 Jul 17.; PubMed PMID: 34340953
Luo F, Xing C, Asrani SK, Li S, Liang G, Hobbs HH, Cohen JC. Missense variant in insulin receptor (Y1355H) segregates in family with fatty liver disease. Mol Metab. 2021 Nov;53:101299. doi: 10.1016/j.molmet.2021.101299. Epub 2021 Jul 13.; PubMed PMID: 34271222; PubMed Central PMCID: PMC8371211
Ni M, Black LF, Pan C, Vu H, Pei J, Ko B, Cai L, Solmonson A, Yang C, Nugent KM, Grishin NV, Xing C, Roeder E, DeBerardinis RJ. Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2. J Inherit Metab Dis. 2021 Jul;44(4):949-960. doi: 10.1002/jimd.12387. Epub 2021 Apr 27.; PubMed PMID: 33855712; PubMed Central PMCID: PMC9219168; NIHMSID: NIHMS1808778
Ni M, Afroze B, Xing C, Pan C, Shao Y, Cai L, Cantarel BL, Pei J, Grishin NV, Hewson S, Knight D, Mahida S, Michel D, Tarnopolsky M, Poduri A, Rotenberg A, Sondheimer N, DeBerardinis RJ. A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy. Genet Med. 2021 May;23(5):900-908. doi: 10.1038/s41436-020-01071-z. Epub 2021 Jan 20.; PubMed PMID: 33473208; PubMed Central PMCID: PMC8105169; NIHMSID: HHMIMS1680085
Ramalingam H, Kashyap S, Cobo-Stark P, Flaten A, Chang CM, Hajarnis S, Hein KZ, Lika J, Warner GM, Espindola-Netto JM, Kumar A, Kanchwala M, Xing C, Chini EN, Patel V. A methionine-Mettl3-N(6)-methyladenosine axis promotes polycystic kidney disease. Cell Metab. 2021 Jun 1;33(6):1234-1247.e7. doi: 10.1016/j.cmet.2021.03.024. Epub 2021 Apr 13.; PubMed PMID: 33852874; PubMed Central PMCID: PMC8172529; NIHMSID: NIHMS1688926
Richardson TE, Sathe AA, Xing C, Mirchia K, Viapiano MS, Snuderl M, Abdullah KG, Hatanpaa KJ, Walker JM. Molecular Signatures of Chromosomal Instability Correlate With Copy Number Variation Patterns and Patient Outcome in IDH-Mutant and IDH-Wildtype Astrocytomas. J Neuropathol Exp Neurol. 2021 Mar 22;80(4):354-365. doi: 10.1093/jnen/nlab008.; PubMed PMID: 33755138
Scarborough AM, Flaherty JN, Hunter OV, Liu K, Kumar A, Xing C, Tu BP, Conrad NK. SAM homeostasis is regulated by CFI(m)-mediated splicing of MAT2A. Elife. 2021 May 5;10:e64930. doi: 10.7554/eLife.64930.; PubMed PMID: 33949310; PubMed Central PMCID: PMC8139829
Selvaraj UM, Ujas TA, Kong X, Kumar A, Plautz EJ, Zhang S, Xing C, Sudduth TL, Wilcock DM, Turchan-Cholewo J, Goldberg MP, Stowe AM. Delayed diapedesis of CD8 T cells contributes to long-term pathology after ischemic stroke in male mice. Brain Behav Immun. 2021 Jul;95:502-513. doi: 10.1016/j.bbi.2021.05.001. Epub 2021 May 5.; PubMed PMID: 33964435; PubMed Central PMCID: PMC8221572; NIHMSID: NIHMS1702998
Thomas-Jardin SE, Kanchwala MS, Dahl H, Liu V, Ahuja R, Soundharrajan R, Roos N, Diep S, Sandhu A, Xing C, Delk NA. Chronic IL-1 Exposed AR(+) PCa Cell Lines Show Conserved Loss of IL-1 Sensitivity and Evolve Both Conserved and Unique Differential Gene Expression Profiles. J Cell Signal. 2021 Dec;2(4):248-260.; PubMed PMID: 34988553; PubMed Central PMCID: PMC8725614; NIHMSID: NIHMS1755243
Woodard DR, Xing C, Ganne P, Liang H, Mahindrakar A, Sankurathri C, Hulleman JD, Mootha VV. A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa. Mol Vis. 2021 Apr 2;27:179-190. eCollection 2021.; PubMed PMID: 33907372; PubMed Central PMCID: PMC8056470
Woznica A, Kumar A, Sturge CR, Xing C, King N, Pfeiffer JK. STING mediates immune responses in the closest living relatives of animals. Elife. 2021 Nov 3;10:e70436. doi: 10.7554/eLife.70436.; PubMed PMID: 34730512; PubMed Central PMCID: PMC8592570
Cardoso AC, Lam NT, Savla JJ, Nakada Y, Pereira AHM, Elnwasany A, Menendez-Montes I, Ensley EL, Petric UB, Sharma G, Sherry AD, Malloy CR, Khemtong C, Kinter MT, Tan WLW, Anene-Nzelu CG, Foo RS, Nguyen NUN, Li S, Ahmed MS, Elhelaly WM, Abdisalaam S, Asaithamby A, Xing C, Kanchwala M, Vale G, Eckert KM, Mitsche MA, McDonald JG, Hill JA, Huang L, Shaul PW, Szweda LI, Sadek HA. Mitochondrial Substrate Utilization Regulates Cardiomyocyte Cell Cycle Progression. Nat Metab. 2020 Feb;2(2):167-178. Epub 2020 Feb 20.; PubMed PMID: 32617517; PubMed Central PMCID: PMC7331943; NIHMSID: NIHMS1548532
Chen B, Aredo B, Ding Y, Zhong X, Zhu Y, Zhao CX, Kumar A, Xing C, Gautron L, Lyon S, Russell J, Li X, Tang M, Anderton P, Ludwig S, Moresco EMY, Beutler B, Ufret-Vincenty RL. Forward genetic analysis using OCT screening identifies Sfxn3 mutations leading to progressive outer retinal degeneration in mice. Proc Natl Acad Sci U S A. 2020 Jun 9;117(23):12931-12942. doi: 10.1073/pnas.1921224117. Epub 2020 May 26.; PubMed PMID: 32457148; PubMed Central PMCID: PMC7293615
Chu Y, Hu J, Liang H, Kanchwala M, Xing C, Beebe W, Bowman CB, Gong X, Corey DR, Mootha VV. Analyzing pre-symptomatic tissue to gain insights into the molecular and mechanistic origins of late-onset degenerative trinucleotide repeat disease. Nucleic Acids Res. 2020 Jul 9;48(12):6740-6758. doi: 10.1093/nar/gkaa422.; PubMed PMID: 32463444; PubMed Central PMCID: PMC7337964
Dahl HC, Kanchwala M, Thomas-Jardin SE, Sandhu A, Kanumuri P, Nawas AF, Xing C, Lin C, Frigo DE, Delk NA. Chronic IL-1 exposure drives LNCaP cells to evolve androgen and AR independence. PLoS One. 2020 Dec 16;15(12):e0242970. doi: 10.1371/journal.pone.0242970. eCollection 2020.; PubMed PMID: 33326447; PubMed Central PMCID: PMC7743957
Esparza M, Mor A, Niederstrasser H, White K, White A, Zhang K, Gao S, Wang J, Liang J, Sho S, Sakthivel R, Sathe AA, Xing C, Muñoz-Moreno R, Shay JW, García-Sastre A, Ready J, Posner B, Fontoura BMA. Chemical intervention of influenza virus mRNA nuclear export. PLoS Pathog. 2020 Apr 2;16(4):e1008407. doi: 10.1371/journal.ppat.1008407. eCollection 2020 Apr.; PubMed PMID: 32240278; PubMed Central PMCID: PMC7117665
Galbraith K, Kumar A, Abdullah KG, Walker JM, Adams SH, Prior T, Dimentberg R, Henderson FC, Mirchia K, Sathe AA, Viapiano MS, Chin LS, Corona RJ, Hatanpaa KJ, Snuderl M, Xing C, Brem S, Richardson TE. Molecular Correlates of Long Survival in IDH-Wildtype Glioblastoma Cohorts. J Neuropathol Exp Neurol. 2020 Aug 1;79(8):843-854. doi: 10.1093/jnen/nlaa059.; PubMed PMID: 32647886
Garg A, El-Shanti H, Xing C, Zhou Z, Abujbara M, Al-Rashed K, El-Khateeb M, Ajlouni K, Agarwal AK. A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant. J Endocr Soc. 2020 Jul 8;4(8):bvaa088. doi: 10.1210/jendso/bvaa088. eCollection 2020 Aug 1.; PubMed PMID: 32803092; PubMed Central PMCID: PMC7417871
Gong K, Guo G, Panchani N, Bender ME, Gerber DE, Minna JD, Fattah F, Gao B, Peyton M, Kernstine K, Mukherjee B, Burma S, Chiang CM, Zhang S, Amod Sathe A, Xing C, Dao KH, Zhao D, Akbay EA, Habib AA. EGFR inhibition triggers an adaptive response by co-opting antiviral signaling pathways in lung cancer. Nat Cancer. 2020 Apr;1(4):394-409. doi: 10.1038/s43018-020-0048-0. Epub 2020 Apr 6.; PubMed PMID: 33269343; PubMed Central PMCID: PMC7706867; NIHMSID: NIHMS1637068
Gotway G, Crossley E, Kozlitina J, Xing C, Fan J, Hornbuckle C, Thies J, Michel D, Quinn C, Scheuerle AE, Umana LA, Uhles CL, Park JY. Clinical Exome Studies Have Inconsistent Coverage. Clin Chem. 2020 Jan 1;66(1):199-206. doi: 10.1093/clinchem.2019.306795.; PubMed PMID: 32609854
Hussain I, Jin RR, Baum HBA, Greenfield JR, Devery S, Xing C, Hegele RA, Carranza-Leon BG, Linton MF, Vuitch F, Wu KHC, Precioso DR, Oshima J, Agarwal AK, Garg A. Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant. J Endocr Soc. 2020 Jul 27;4(10):bvaa104. doi: 10.1210/jendso/bvaa104. eCollection 2020 Oct 1.; PubMed PMID: 32939435; PubMed Central PMCID: PMC7485795
Iqbal NS, Jascur TA, Harrison SM, Edwards AB, Smith LT, Choi ES, Arevalo MK, Chen C, Zhang S, Kern AJ, Scheuerle AE, Sanchez EJ, Xing C, Baker LA. Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene. BMC Med Genet. 2020 Feb 21;21(1):38. doi: 10.1186/s12881-020-0973-x.; PubMed PMID: 32085749; PubMed Central PMCID: PMC7035669
Jiang X, Shao Y, Araj FG, Amin AA, Greenberg BM, Drazner MH, Xing C, Mammen PPA. Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy. J Am Heart Assoc. 2020 Oct 20;9(19):e016799. doi: 10.1161/JAHA.120.016799. Epub 2020 Oct 2.; PubMed PMID: 33003980; PubMed Central PMCID: PMC7792368
Martins FH, Kumar A, Abe CM, Carvalho E, Nishiyama-Jr M, Xing C, Sperandio V, Elias WP. EspFu-Mediated Actin Assembly Enhances Enteropathogenic Escherichia coli Adherence and Activates Host Cell Inflammatory Signaling Pathways. mBio. 2020 Apr 14;11(2):e00617-20. doi: 10.1128/mBio.00617-20.; PubMed PMID: 32291304; PubMed Central PMCID: PMC7157822
Nawas AF, Kanchwala M, Thomas-Jardin SE, Dahl H, Daescu K, Bautista M, Anunobi V, Wong A, Meade R, Mistry R, Ghatwai N, Bayerl F, Xing C, Delk NA. IL-1-conferred gene expression pattern in ERα(+) BCa and AR(+) PCa cells is intrinsic to ERα(-) BCa and AR(-) PCa cells and promotes cell survival. BMC Cancer. 2020 Jan 20;20(1):46. doi: 10.1186/s12885-020-6529-9.; PubMed PMID: 31959131; PubMed Central PMCID: PMC6971947
Nguyen NUN, Canseco DC, Xiao F, Nakada Y, Li S, Lam NT, Muralidhar SA, Savla JJ, Hill JA, Le V, Zidan KA, El-Feky HW, Wang Z, Ahmed MS, Hubbi ME, Menendez-Montes I, Moon J, Ali SR, Le V, Villalobos E, Mohamed MS, Elhelaly WM, Thet S, Anene-Nzelu CG, Tan WLW, Foo RS, Meng X, Kanchwala M, Xing C, Roy J, Cyert MS, Rothermel BA, Sadek HA. A calcineurin-Hoxb13 axis regulates growth mode of mammalian cardiomyocytes. Nature. 2020 Jun;582(7811):271-276. doi: 10.1038/s41586-020-2228-6. Epub 2020 Apr 22.; PubMed PMID: 32499640; PubMed Central PMCID: PMC7670845; NIHMSID: NIHMS1566238
Niu Y, Bao L, Chen Y, Wang C, Luo M, Zhang B, Zhou M, Wang JE, Fang YV, Kumar A, Xing C, Wang Y, Luo W. HIF2-Induced Long Noncoding RNA RAB11B-AS1 Promotes Hypoxia-Mediated Angiogenesis and Breast Cancer Metastasis. Cancer Res. 2020 Mar 1;80(5):964-975. doi: 10.1158/0008-5472.CAN-19-1532. Epub 2020 Jan 3.; PubMed PMID: 31900259; PubMed Central PMCID: PMC7056556; NIHMSID: NIHMS1548523
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Garg A, Sankella S, Xing C, Agarwal AK. Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy. JCI Insight. 2016 Jun 16;1(9):e86870. doi: 10.1172/jci.insight.86870.; PubMed PMID: 27376152; PubMed Central PMCID: PMC4927009; NIHMSID: NIHMS796444
Lakhia R, Hajarnis S, Williams D, Aboudehen K, Yheskel M, Xing C, Hatley ME, Torres VE, Wallace DP, Patel V. MicroRNA-21 Aggravates Cyst Growth in a Model of Polycystic Kidney Disease. J Am Soc Nephrol. 2016 Aug;27(8):2319-30. doi: 10.1681/ASN.2015060634. Epub 2015 Dec 17.; PubMed PMID: 26677864; PubMed Central PMCID: PMC4978047
Patni N, Brothers J, Xing C, Garg A. Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1. J Clin Lipidol. 2016 Jul-Aug;10(4):1035-1039.e2. doi: 10.1016/j.jacl.2016.04.001. Epub 2016 Apr 11.; PubMed PMID: 27578137
Shetty S, Xing C, Garg A. Type 1 Hyperlipoproteinemia Due to Compound Heterozygous Rare Variants in GCKR. J Clin Endocrinol Metab. 2016 Nov;101(11):3884-3887. doi: 10.1210/jc.2016-2179. Epub 2016 Jul 12.; PubMed PMID: 27403930; PubMed Central PMCID: PMC5095252
Starokadomskyy P, Gemelli T, Rios JJ, Xing C, Wang RC, Li H, Pokatayev V, Dozmorov I, Khan S, Miyata N, Fraile G, Raj P, Xu Z, Xu Z, Ma L, Lin Z, Wang H, Yang Y, Ben-Amitai D, Orenstein N, Mussaffi H, Baselga E, Tadini G, Grunebaum E, Sarajlija A, Krzewski K, Wakeland EK, Yan N, de la Morena MT, Zinn AR, Burstein E. DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. Nat Immunol. 2016 May;17(5):495-504. doi: 10.1038/ni.3409. Epub 2016 Mar 28.; PubMed PMID: 27019227; PubMed Central PMCID: PMC4836962; NIHMSID: NIHMS755853
Sun X, Chuang JC, Kanchwala M, Wu L, Celen C, Li L, Liang H, Zhang S, Maples T, Nguyen LH, Wang SC, Signer RA, Sorouri M, Nassour I, Liu X, Xu J, Wu M, Zhao Y, Kuo YC, Wang Z, Xing C, Zhu H. Suppression of the SWI/SNF Component Arid1a Promotes Mammalian Regeneration. Cell Stem Cell. 2016 Apr 7;18(4):456-66. doi: 10.1016/j.stem.2016.03.001. Epub 2016 Mar 24.; PubMed PMID: 27044474; PubMed Central PMCID: PMC4826298; NIHMSID: NIHMS766466
Thu KL, Papari-Zareei M, Stastny V, Song K, Peyton M, Martinez VD, Zhang YA, Castro IB, Varella-Garcia M, Liang H, Xing C, Kittler R, Milchgrub S, Castrillon DH, Davidson HL, Reynolds CP, Lam WL, Lea J, Gazdar AF. A comprehensively characterized cell line panel highly representative of clinical ovarian high-grade serous carcinomas. Oncotarget. 2016 Jun 10;8(31):50489-50499. doi: 10.18632/oncotarget.9929. eCollection 2017 Aug 1.; PubMed PMID: 28881577; PubMed Central PMCID: PMC5584155
Dongiovanni P, Petta S, Maglio C, Fracanzani AL, Pipitone R, Mozzi E, Motta BM, Kaminska D, Rametta R, Grimaudo S, Pelusi S, Montalcini T, Alisi A, Maggioni M, Kärjä V, Borén J, Käkelä P, Di Marco V, Xing C, Nobili V, Dallapiccola B, Craxi A, Pihlajamäki J, Fargion S, Sjöström L, Carlsson LM, Romeo S, Valenti L. Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease. Hepatology. 2015 Feb;61(2):506-14. doi: 10.1002/hep.27490.; PubMed PMID: 25251399
Hong C, Wang J, Xing C, Hwang TH, Park JY. Intersection of DNA privacy and whole-genome sequencing. Clin Chem. 2015 Jul;61(7):900-2. doi: 10.1373/clinchem.2014.235499. Epub 2015 Feb 5.; PubMed PMID: 25655271
Kimura W, Xiao F, Canseco DC, Muralidhar S, Thet S, Zhang HM, Abderrahman Y, Chen R, Garcia JA, Shelton JM, Richardson JA, Ashour AM, Asaithamby A, Liang H, Xing C, Lu Z, Zhang CC, Sadek HA. Hypoxia fate mapping identifies cycling cardiomyocytes in the adult heart. Nature. 2015 Jul 9;523(7559):226-30. doi: 10.1038/nature14582. Epub 2015 Jun 22.; PubMed PMID: 26098368
Mootha VV, Hussain I, Cunnusamy K, Graham E, Gong X, Neelam S, Xing C, Kittler R, Petroll WM. TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy. Invest Ophthalmol Vis Sci. 2015 Feb 26;56(3):2003-11. doi: 10.1167/iovs.14-16222.; PubMed PMID: 25722209; PubMed Central PMCID: PMC4373545
Soliman AZ, Xing C, Radwan SH, Gong X, Mootha VV. Correlation of Severity of Fuchs Endothelial Corneal Dystrophy With Triplet Repeat Expansion in TCF4. JAMA Ophthalmol. 2015 Dec;133(12):1386-91. doi: 10.1001/jamaophthalmol.2015.3430.; PubMed PMID: 26401622
Stender S, Chakrabarti RS, Xing C, Gotway G, Cohen JC, Hobbs HH. Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. Mol Genet Metab. 2015 Dec;116(4):269-74. doi: 10.1016/j.ymgme.2015.10.009. Epub 2015 Oct 26.; PubMed PMID: 26527160; PubMed Central PMCID: PMC4733618; NIHMSID: NIHMS753323
Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nat Genet. 2015 May;47(5):512-7. doi: 10.1038/ng.3278. Epub 2015 Apr 13.; PubMed PMID: 25848748; PubMed Central PMCID: PMC4414891; NIHMSID: NIHMS673360