Genes & Human Disease Research Program

The human genome is composed of more than 3 billion nucleotides that essentially functions as a molecular hard drive that stores all the information needed for how the cells in our body function. Of the 3 billion nucleotides, roughly 2% encodes for the different proteins that perform the various cellular functions needed for life. The remaining 98% of the human genome regulates what, when, and how each gene is expressed during the life of a cell. The random inheritance of different variations of the DNA sequences of encoded genes and non-protein coding regulatory regions from a person’s parents provides, in many ways, the characteristics that make each individual unique. Unfortunately, inheritance of genetic variations also increases a person’s risk of developing different human diseases.

The Genes and Human Disease Research Program focuses on identifying and understanding how genetic variations cause human diseases. While our investigators share this focus, each has their own specific interests including determining the function of non-coding RNA, and understanding how the complex 3D organization of the genome, disease-associated non-coding variants, and the epigenome regulate gene expression in health and disease. In addition, our faculty are developing and applying new machine and deep-learning approaches to identify new disease-associated genetic variations and define disease-associated gene networks.

The Genes and Human Disease Research Program works closely with the OMRF CLIA certified Clinical Genomics Center, the OMRF CAP-accredited Biorepository and the OMRF Quantitative Analysis Core. These Cores were established using funding from various grants through the NIH Institutional Development Award (IDeA) program, and continue to be supported by the OMRF. Our investigators benefit from the state-of-the-art sequencing technologies, sample procurement, processing and storage, and data analysis expertise afforded by these Cores.

2025

Selvarani R, Lee S, Saminathan M, Boovalingam P, Kurup K, Pham K, Wolf RF, Freeman WM, Unnikrishnan A, Richardson A. Necroptosis induced by MLKL overexpression in liver triggers cellular senescence and leads to chronic inflammation and fibrosis. Geroscience, 2025 November, PMID: 41283975

Radziszewski M, Tessneer KL, Lessard CJ. The power of genetics in decoding Sjögren's disease: current status and future development. Curr Opin Immunol 98:102690, 2025 November, PMID: 41218327, PMCID: PMC12626427

Pranzatelli TJF, Perez P, Ku A, Matuck B, Huynh K, Sakai S, Abed M, Jang SI, Yamada E, Dominick K, Ahmed Z, Oliver AJ, Bogle R, Easter QT, Baer AN, Pelayo E, Khavandgar Z, Kleiner DE, Magone MT, Gupta S, Lessard C, Farris AD, Burbelo PD, Martin D, Morell RJ, Zheng C, Rachmaninoff N, Maldonado-Ortiz J, Tyc KM, Qu X, Aure M, Dezfulian MH, Lake R, Teichmann SA, Barber DL, Tsoi LC, Sowalsky AG, Liu J, Gudjonsson J, Byrd KM, Johnson PLF, Chiorini JA, Warner BM. GZMK( )CD8( ) T cells target a specific acinar cell type in Sjögren's disease. Ann Rheum Dis, 2025 October, PMID: 41162286

Owrang D, Rad A, Cretu C, Lin SJ, Mustafa HM, Huang K, Waheed N, Hussain M, Riaz S, Preobraschenski J, Varshney GK, Oprea G, Vona B. Uncovering Dual Molecular Diagnoses in Families with Complex Phenotypes through Structural and Clinical Study of Novel COL4A6 Variants. QJM, 2025 October, PMID: 41092388

Houmam S, Siodlak D, Pham KD, Salinas-Salinas C, Ocañas SR, Freeman WM, Rice HC. Protocol to sequentially isolate mouse oligodendrocytes, microglia, endothelial cells, astrocytes, and neurons via magnetic cell sorting. STAR Protoc 6:104139, 2025 October, PMID: 41075250, PMCID: PMC12547733

Juliá-Palacios N, Muñoz-Pujol G, Maroofian R, Bertoli-Avella AM, Gómez-Chiari M, Muchart-López J, Paredes-Fuentes AJ, O'Callaghan M, Machado-Casas IS, Cristian I, Morrison J, Garcia-Cazorla A, Codina A, Miryounesi M, Zonic E, Bauer P, Cheema H, Anjum MN, Al-Sannaa N, Abd Elmaksoud M, Ababneh F, Alijanpour S, Tonekaboni SH, Fayazi A, Urbaniak M, Barba U, Hoenicka J, Palau F, Houlden H, Ortigoza-Escobar JD, Ribes A, Santos-Ocaña C, Tyler M, Gaffney P, Carroll CJ, Tort F, Wierenga KJ, Webb BD, Artuch R, Baide-Mairena H, Urreizti R. Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases. Brain Commun 7:fcaf348, 2025 September, PMID: 41040850, PMCID: PMC12484445

Thadathil N, Wolf NA, Wolf R, Díaz-García CM, Logan S, Owen DB, Pham K, Freeman WM, Richardson A. Neuronal Necroptosis Drives Neuroinflammation and Cognitive Decline Independent of Neuronal Cell Death. Aging Dis, 2025 September, PMID: 41082292

Li R, Gagliano Taliun SA, Liao K, Flickinger M, Sobell JL, Genovese G, Locke AE, Chiu RR, LeFaive J, Wang J, Martins T, Chapman S, Neumann A, Handsaker RE, Arnett DK, Barnes KC, Boerwinkle E, Braff D, Cade BE, Fornage M, Gibbs RA, Hoth KF, Hou L, Kooperberg C, Loos RJF, Metcalf GA, Montgomery CG, Morrison AC, Qin ZS, Redline S, Reiner AP, Rich SS, Rotter JI, Taylor KD, Viaud-Martinez KA, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Genomic Psychiatry Cohort investigators, Bigdeli TB, Gabriel S, Zollner S, Smith AV, Abecasis G, McCarroll S, Pato MT, Pato CN, Boehnke M, Knowles J, Kang HM, Ophoff RA, Ernst J, Scott LJ. Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia. HGG Adv:100499, 2025 August, PMID: 40886051, PMCID: PMC12494821

Al-Naggar IM, Quinn CG, LaHue SC, Ocañas SR, Yousefzadeh M, Kozikowski C, McAbee-Sevick H, Campellone KG, Curran S, Justice JN, Orr ME, Thatcher C, Espinoza S, Newman JC, Pignolo RJ, Kuchel GA. Building an Interdisciplinary Workforce in Geroscience: Aligning Perspectives and Educational Goals. J Gerontol A Biol Sci Med Sci 80, 2025 August, PMID: 40850699, PMCID: PMC12375410

Ding Y, Chen J, Liu S, Hays JM, Gu X, Wren JD, Georgescu C, Reuter DN, Liu B, He F, Wang X, Wei Q, Wang J, Subramaniyan B, Wu Z, Kodali K, Reagan AM, Freeman WM, Miranti CK, Csiszar A, Ungvari Z, Mehla K, Walters MS, Elliott MH, Peng J, Kanie T, Papin JF, Hays FA, Zhang XA. Publisher Correction: Tetraspanin-enriched membrane domains regulate vascular leakage by altering membrane cholesterol accessibility to balance antagonistic GTPases. Nat Cardiovasc Res, 2025 August, PMID: 40841835

Houmam S, Siodlak D, Pham KD, Salinas-Salinas C, Ocañas SR, Freeman WM, Rice HC. Protocol to isolate oligodendrocytes, microglia, endothelial cells, astrocytes, and neurons from a single mouse brain using magnetic-activated cell sorting. bioRxiv, 2025 August, PMID: 40832248, PMCID: PMC12363854

Porter HL, Ansere VA, Undi RB, Hoolehan W, Giles CB, Brown CA, Stanford D, Huycke MM, Freeman WM, Wren JD. Methylation array signals are predictive of chronological age without bisulfite conversion. Geroscience, 2025 July, PMID: 40721571

Ding Y, Chen J, Liu S, Hays JM, Gu X, Wren JD, Georgescu C, Reuter DN, Liu B, He F, Wang X, Wei Q, Wang J, Subramaniyan B, Wu Z, Kodali K, Reagan AM, Freeman WM, Miranti CK, Csiszar A, Ungvari Z, Mehla K, Walters MS, Elliott MH, Peng J, Kanie T, Papin JF, Hays FA, Zhang XA. Tetraspanin-enriched membrane domains regulate vascular leakage by altering membrane cholesterol accessibility to balance antagonistic GTPases. Nat Cardiovasc Res, 2025 July, PMID: 40731107

Qin W, Lin SJ, Zhang Y, Huang K, Petree C, Boyd K, Varshney P, Varshney GK. Rationally Designed TadA-Derived Cytosine Editors Enable Context-Independent Zebrafish Genome Editing. Adv Sci (Weinh):e09800, 2025 July, PMID: 40685751, PMCID: PMC12533148

Hwang J, Gipson J, Xu C, VanWagoner T, Xu X, Agnew RJ, Freeman WM. Effects of Residual PAH Exposure from Firefighters' Skin and Turnout Gear on Biospecimen microRNA Expression. Environ Res:122348, 2025 July, PMID: 40659202

Varshney GK, Burgess SM. CRISPR-based functional genomics tools in vertebrate models. Exp Mol Med 57:1355-1372, 2025 July, PMID: 40745001, PMCID: PMC12322193

Sok SPM, Cheng J, Strucinska K, Popescu NI, Wu L, Ke Q, Kiosses WB, Stanford D, Freeman WM, Matsuzaki S, Lewis TL Jr, Zhao M. P-glycoprotein expression skews mitochondrial dye measurements in T cells. Front Immunol 16:1560104, 2025 June, PMID: 40607427, PMCID: PMC12213397

Kurup K, Chan M, Moore E, Ranjo-Bishop M, Pham K, Stanford DR, Freeman WM, Unnikrishnan A. Late-life short-term dietary restriction improves intestinal stem cell function and alters intestinal stem cell DNA methylation in mice. J Nutr, 2025 May, PMID: 40456408, PMCID: PMC12346696

Wiley MM, Radziszewski M, Khatri B, Joachims ML, Tessneer KL, Stolarczyk AM, Yao S, Li J, Pritchett-Frazee C, Johnston AA, Rasmussen A, Anaya JM, Aqrawi LA, Bae SC, Baecklund E, Björk A, Brun JG, Bucher SM, Dand N, Eloranta ML, Engelke F, Forsblad-d'Elia H, Fugmann C, Glenn SB, Gong C, Gottenberg JE, Hammenfors D, Imgenberg-Kreuz J, Jensen JL, Johnsen SJA, Jonsson MV, Kelly JA, Khanam S, Kim K, Kvarnström M, Mandl T, Martín J, Morris DL, Nocturne G, Norheim KB, Olsson P, Palm Ø, Pers JO, Rhodus NL, Sjöwall C, Skarstein K, Taylor KE, Tombleson P, Thorlacius GE, Venuturupalli SR, Vital EM, Wallace DJ, Radfar L, Brennan MT, James JA, Scofield RH, Gaffney PM, Criswell LA, Jonsson R, Appel S, Eriksson P, Bowman SJ, Omdal R, Rönnblom L, Warner BM, Rischmueller M, Witte T, Farris AD, Mariette X, Shiboski CH, Sjögren’s International Collaborative Clinical Alliance (SICCA), Wahren-Herlenius M, Alarcón-Riquelme ME, PRECISESADS Clinical Consortium, Ng WF, UK Primary Sjögren’s Syndrome Registry, Sivils KL, Guthridge JM, Adrianto I, Vyse TJ, Tsao BP, Nordmark G, Lessard CJ. Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland. Ann Rheum Dis, 2025 May, PMID: 40447495, PMCID: PMC12236377

Jiang K, Fu Y, Kelly JA, Gaffney PM, Holmes LC, Jarvis JN. Defining three dimensional chromatin structures of pediatric and adolescent B cells using primary B cell and EBV-immortalized B cell reference genomes. BMC Med Genomics 18:97, 2025 May, PMID: 40437445, PMCID: PMC12117681

Drumond-Bock AL, Blankenship HE, Pham KD, Carter KA, Freeman WM, Beckstead MJ. Parallel gene expression changes in ventral midbrain dopamine and GABA neurons during normal aging. eNeuro, 2025 May, PMID: 40360281, PMCID: PMC12121937

Tsaliki M, Cavett J, Kurien BT, Bruxvoort C, Lewis VM, Ice JA, Dave D, Khosravani S, Grundahl K, Lessard CJ, Rasmussen A, Sivils KL, Farris AD, Koelsch KA, Scofield RH. A cross-sectional observational study of patients with sicca with salivary autoantibodies defines a potential new phenotype of Sjögren's disease. Ann Rheum Dis, 2025 May, PMID: 40320334, PMCID: PMC12642395

Kurien BT, Ice JA, Wood RA, Pharaoh G, Cavett J, Lewis V, Bhaskaran S, Rasmussen A, Lessard CJ, Farris AD, Sivilis K, Koelsch KA, Van Remmen H, Scofield RH. Mitochondrial dysfunction and fatigue in Sjögren's disease. RMD Open 11, 2025 April, PMID: 40274303, PMCID: PMC12020762

Efthymiou S, Leo CP, Deng C, Lin SJ, Maroofian R, Lin R, Karagoz I, Zhang K, Kaiyrzhanov R, Scardamaglia A, Owrang D, Turchetti V, Jahnke F, Huang K, Petree C, Derrick AV, Rees MI, Alvi JR, Sultan T, Li C, Jacquemont ML, Tran-Mau-Them F, Valenzuela-Palafoll M, Sidlow R, Yoon G, Morrow MM, Carere DA, O'Connor M, Fleischer J, Gerkes EH, Phornphutkul C, Isidor B, Rivier-Ringenbach C, Philippe C, Kurul SH, Soydemir D, Kara B, Sunnetci-Akkoyunlu D, Bothe V, Platzer K, Wieczorek D, Koch-Hogrebe M, Rahner N, Thuresson AC, Matsson H, Frykholm C, Bozdoğan ST, Bisgin A, Chatron N, Lesca G, Cabet S, Tümer Z, Hjortshøj TD, Rønde G, Marquardt T, Reunert J, Afzal E, Zamani M, Azizimalamiri R, Galehdari H, Nourbakhsh P, Chamanrou N, Chung SK, Suri M, Benke PJ, Zaki MS, Gleeson JG, Calame DG, Pehlivan D, Yilmaz HI, Gezdirici A, Rad A, Abumansour IS, Oprea G, Bereketoğlu MB, Banneau G, Julia S, Zeighami J, Ashoori S, Shariati G, Sedaghat A, Sabri A, Hamid M, Parvas S, Tajudin TA, Abdullah U, Baig SM, Chung WK, Glazunova OO, Sabine S, Cheema HA, Zifarelli G, Bauer P, Sidpra J, Mankad K, Vona B, Fry AE, Varshney GK, Houlden H, Fu D. Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder. Am J Hum Genet, 2025 April, PMID: 40245862, PMCID: PMC12120178

Myers JM, Sandel C, Alvarez K, Garman L, Wiley G, Montgomery C, Gaffney P, Stavrakis S, Fairweather D, Bruno KA, Zhao YD, Cooper LT, Cunningham MW. Cardiac autoantibodies promote a fibrotic transcriptome and reduced ventricular recovery in human myocarditis. Front Immunol 16:1500909, 2025 March, PMID: 40181955, PMCID: PMC11965655

Murach KA, Englund DA, Chambers TL, Dungan CM, Porter HL, Wren JD, Freeman WM, Dupont-Versteegden EE, Wen Y. A satellite cell-dependent epigenetic fingerprint in skeletal muscle identity genes after lifelong physical activity. FASEB J 39:e70435, 2025 March, PMID: 40047419, PMCID: PMC11884312

Burge KY, Georgescu C, Zhong H, Wilson AP, Gunasekaran A, Yu Z, Franca A, Eckert JV, Wren JD, Chaaban H. Spatial transcriptomics delineates potential differences in intestinal phenotypes of cardiac and classical necrotizing enterocolitis. iScience 28:112166, 2025 March, PMID: 40201118, PMCID: PMC11978348

Lin SJ, Huang K, Petree C, Qin W, Varshney P, Varshney GK. Optimizing gRNA selection for high-penetrance F0 CRISPR screening for interrogating disease gene function. Nucleic Acids Res 53, 2025 February, PMID: 40103232, PMCID: PMC11915512

Gui H, Lessard CJ, Liu J, Li M, Adrianto I. Editorial: Integrative genetics and multi-omics of complex human disorders. Front Genet 16:1574431, 2025 February, PMID: 40061127, PMCID: PMC11885495

Scofield RH, Wren JD, Lewis VM. The toll like receptor 7 pathway and the sex bias of systemic lupus erythematosus. Front Immunol 16:1479814, 2025 February, PMID: 40051623, PMCID: PMC11882868

De Kumar B, Krishnan J. Guidelines to Analyze ChIP-Seq Data: Journey Through QC and Analysis Considerations. Methods Mol Biol 2889:193-206, 2025 January, PMID: 39745614

2024

Li R, Taliun SAG, Liao K, Flickinger M, Sobell JL, Genovese G, Locke AE, Chiu RR, LeFaive J, Martins T, Chapman S, Neumann A, Handsaker RE, Arnett DK, Barnes KC, Boerwinkle E, Braff D, Cade BE, Fornage M, Gibbs RA, Hoth KF, Hou L, Kooperberg C, Loos RJF, Metcalf GA, Montgomery CG, Morrison AC, Qin ZS, Redline S, Reiner AP, Rich SS, Rotter JI, Taylor KD, Viaud-Martinez KA, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Genomic Psychiatry Cohort investigators, Bigdeli TB, Gabriel S, Zollner S, Smith AV, Abecasis G, McCarroll S, Pato MT, Pato CN, Boehnke M, Knowles J, Kang HM, Ophoff RA, Ernst J, Scott LJ. Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia. medRxiv, 2024 December, PMID: 39763555, PMCID: PMC11703280

Mortensen L, Koenigsberg CK, Kimbrough TG, Ping J, Adeva GS, Wuertz BR, Gaffney P, Ondrey FG. Analysis of nuclear receptor expression in head and neck cancer. Cancer Genet 290-291:61-71, 2024 December, PMID: 39754894, PMCID: PMC11800142

Isola JVV, Biswas S, Jayarathne H, Hubbart CR, Hense JD, Matsuzaki S, Kinter MT, Humphries KM, Ocañas SR, Sadagurski M, Stout MB. Canagliflozin treatment prevents follicular exhaustion and attenuates hallmarks of ovarian aging in genetically heterogenous mice. Geroscience, 2024 December, PMID: 39672978, PMCID: PMC12181533

Bhaskaran S, Piekarz KM, Brown J, Yang B, Ocañas SR, Wren JD, Georgescu C, Bottoms C, Murphy A, Thomason J, Saunders D, Smith N, Towner R, Van Remmen H. The nitrone compound OKN-007 delays motor neuron loss and disease progression in the G93A mouse model of amyotrophic lateral sclerosis. Front Neurosci 18:1505369, 2024 November, PMID: 39633896, PMCID: PMC11614777

Blankenship HE, Carter KA, Pham KD, Cassidy NT, Markiewicz AN, Thellmann MI, Sharpe AL, Freeman WM, Beckstead MJ. VTA dopamine neurons are hyperexcitable in 3xTg-AD mice due to casein kinase 2-dependent SK channel dysfunction. Nat Commun 15:9673, 2024 November, PMID: 39516200, PMCID: PMC11549218

Zhang Y, Liu Y, Qin W, Zheng S, Xiao J, Xia X, Yuan X, Zeng J, Shi Y, Zhang Y, Ma H, Varshney GK, Fei JF, Liu Y. Cytosine base editors with increased PAM and deaminase motif flexibility for gene editing in zebrafish. Nat Commun 15:9526, 2024 November, PMID: 39496611, PMCID: PMC11535530

Barish S, Lin SJ, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, Biderman Waberski M, Mitani T, Huber I, Tveten K, Holla ØL, Busk ØL, Houlden H, Ghayoor Karimiani E, Beiraghi Toosi M, Shervin Badv R, Najarzadeh Torbati P, Eghbal F, Akhondian J, Al Safar A, Alswaid A, Zifarelli G, Bauer P, Marafi D, Fatih JM, Huang K, Petree C, Calame DG, von der Lippe C, Alkuraya FS, Wali S, Lupski JR, Varshney GK, Posey JE, Pehlivan D. Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. Am J Hum Genet, 2024 October, PMID: 39471804, PMCID: PMC11568760

Patterson AS, Dugdale J, Koleilat A, Krauss A, Hernandez-Herrera GA, Wallace JG, Petree C, Varshney GK, Schimmenti LA. Vital Dye Uptake of YO-PRO-1 and DASPEI Depends Upon Mechanoelectrical Transduction Function in Zebrafish Hair Cells. J Assoc Res Otolaryngol, 2024 October, PMID: 39433714, PMCID: PMC11683040

Ree R, Lin SJ, Sti Dahl LO, Huang K, Petree C, Varshney GK, Arnesen T. Naa80 is required for actin N-terminal acetylation and normal hearing in zebrafish. Life Sci Alliance 7, 2024 October, PMID: 39384430, PMCID: PMC11465159

Chucair-Elliott AJ, Pham K, Cleuren ACA, Schafer CM, Griffin CT, Ocanas SR, Freeman WM, Elliott MH. Comparative Analysis of In vivo Endothelial Cell Translatomes Across Central Nervous System Vascular Beds. Exp Eye Res:110101, 2024 September, PMID: 39303842, PMCID: PMC11532013

Pollalis D, Nair GKG, Leung J, Bloemhof CM, Bailey JK, Pennington BO, Kelly KR, Khan AI, Yeh AK, Sundaram KS, Clegg DO, Peng CC, Xu L, Georgescu C, Wren JD, Lee SY. Dynamics of microRNA secreted via extracellular vesicles during the maturation of embryonic stem cell-derived retinal pigment epithelium. J Extracell Biol 3:e70001, 2024 September, PMID: 39281021, PMCID: PMC11393772

Kim H, Ranjit R, Claflin DR, Georgescu C, Wren JD, Brooks SV, Miller BF, Ahn B. Unacylated Ghrelin Protects Against Age-Related Loss of Muscle Mass and Contractile Dysfunction in Skeletal Muscle. Aging Cell:e14323, 2024 September, PMID: 39223708, PMCID: PMC11634730

Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Lévesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame DG, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga DM, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillmann RC, Srinivasan VM, Torbati PN, Tos T, Undiagnosed Diseases Network, Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nat Commun 15:7239, 2024 August, PMID: 39174524, PMCID: PMC11341845

Ma H, Stanford D, Freeman WM, Ding XQ. Transcriptomic Analysis Reveals That Excessive Thyroid Hormone Signaling Impairs Phototransduction and Mitochondrial Bioenergetics and Induces Cellular Stress in Mouse Cone Photoreceptors. Int J Mol Sci 25, 2024 July, PMID: 39000540, PMCID: PMC11242393

Qin W, Liang F, Lin SJ, Petree C, Huang K, Zhang Y, Li L, Varshney P, Mourrain P, Liu Y, Varshney GK. ABE-ultramax for high-efficiency biallelic adenine base editing in zebrafish. Nat Commun 15:5613, 2024 July, PMID: 38965236, PMCID: PMC11224239

Cox JEJ, Pham KD, Keck AW, Wright Z, Thomas MA, Freeman WM, Ocañas SR. Flow Cytometry Analysis of Microglial Phenotypes in the Murine Brain During Aging and Disease. Bio Protoc 14:e5018, 2024 June, PMID: 38948260, PMCID: PMC11211077

Kang S, Ko EY, Andrews AE, Shin JE, Nance KJ, Barman PK, Heeger PS, Freeman WM, Benayoun BA, Goodridge HS. Microglia undergo sex-dimorphic transcriptional and metabolic rewiring during aging. J Neuroinflammation 21:150, 2024 June, PMID: 38840206, PMCID: PMC11155174

Keener R, Chhetri SB, Connelly CJ, Taub MA, Conomos MP, Weinstock J, Ni B, Strober B, Aslibekyan S, Auer PL, Barwick L, Becker LC, Blangero J, Bleecker ER, Brody JA, Cade BE, Celedon JC, Chang YC, Cupples LA, Custer B, Freedman BI, Gladwin MT, Heckbert SR, Hou L, Irvin MR, Isasi CR, Johnsen JM, Kenny EE, Kooperberg C, Minster RL, Naseri T, Viali S, Nekhai S, Pankratz N, Peyser PA, Taylor KD, Telen MJ, Wu B, Yanek LR, Yang IV, Albert C, Arnett DK, Ashley-Koch AE, Barnes KC, Bis JC, Blackwell TW, Boerwinkle E, Burchard EG, Carson AP, Chen Z, Chen YI, Darbar D, de Andrade M, Ellinor PT, Fornage M, Gelb BD, Gilliland FD, He J, Islam T, Kaab S, Kardia SLR, Kelly S, Konkle BA, Kumar R, Loos RJF, Martinez FD, McGarvey ST, Meyers DA, Mitchell BD, Montgomery CG, North KE, Palmer ND, Peralta JM, Raby BA, Redline S, Rich SS, Roden D, Rotter JI, Ruczinski I, Schwartz D, Sciurba F, Shoemaker MB, Silverman EK, Sinner MF, Smith NL, Smith AV, Tiwari HK, Vasan RS, Weiss ST, Williams LK, Zhang Y, Ziv E, Raffield LM, Reiner AP, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology and Hemostasis Working Group, TOPMed Structural Variation Working Group, Arvanitis M, Greider CW, Mathias RA, Battle A. Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes. Nat Commun 15:4417, 2024 May, PMID: 38789417, PMCID: PMC11126610

Lincoln MR, Connally N, Axisa PP, Gasperi C, Mitrovic M, van Heel D, Wijmenga C, Withoff S, Jonkers IH, Padyukov L, International Multiple Sclerosis Genetics Consortium, Rich SS, Graham RR, Gaffney PM, Langefeld CD, Vyse TJ, Hafler DA, Chun S, Sunyaev SR, Cotsapas C. Genetic mapping across autoimmune diseases reveals shared associations and mechanisms. Nat Genet, 2024 May, PMID: 38741015

Chucair-Elliott AJ, Ocañas SR, Pham K, Machalinski A, Plafker S, Stout MB, Elliott MH, Freeman WM. Age- and sex- divergent translatomic responses of the mouse retinal pigmented epithelium. Neurobiol Aging 140:41-59, 2024 May, PMID: 38723422, PMCID: PMC11173338

Isola JVV, Hense JD, Osorio CAP, Biswas S, Alberola-Ila J, Ocanas SR, Schneider A, Stout MB. Inflammation, immune cells, and cellular senescence in the aging ovary. Reproduction, 2024 May, PMID: 38744316, PMCID: PMC11301429

Brown CA, Wren JD. AutoGDC: A Python Package for DNA Methylation and Transcription Meta-Analyses. bioRxiv, 2024 April, PMID: 38659836, PMCID: PMC11042378

Chen J, Ding Y, Jiang C, Qu R, Wren JD, Georgescu C, Wang X, Reuter DN, Liu B, Giles CB, Mayr CH, Schiller HB, Dai J, Stipp CS, Subramaniyan B, Wang J, Zuo H, Huang C, Fung KM, Rice HC, Sonnenberg A, Wu D, Walters MS, Zhao YY, Kanie T, Hays FA, Papin JF, Wang DW, Zhang XA. CD151 Maintains Endolysosomal Protein Quality to Inhibit Vascular Inflammation. Circ Res, 2024 April, PMID: 38557119, PMCID: PMC11081830

Komaravolu RK, Mehta-D'souza P, Conner T, Allen M, Lumry J, Batushansky A, Pezant NP, Montgomery CG, Griffin TM. Sex-specific effects of injury and beta-adrenergic activation on metabolic and inflammatory mediators in a murine model of post-traumatic osteoarthritis. Osteoarthritis Cartilage, 2024 March, PMID: 38527663, PMCID: PMC11330734

Winnicki MJ, Brown CA, Porter HL, Giles CB, Wren JD. BioVDB: biological vector database for high-throughput gene expression meta-analysis. Front Artif Intell 7:1366273, 2024 March, PMID: 38525301, PMCID: PMC10957786

Fu Y, Kelly JA, Gopalakrishnan J, Pelikan RC, Tessneer KL, Pasula S, Grundahl K, Murphy DA, Gaffney PM. Massively Parallel Reporter Assay Confirms Regulatory Potential of hQTLs and Reveals Important Variants in Lupus and Other Autoimmune Diseases. HGG Adv:100279, 2024 February, PMID: 38389303, PMCID: PMC10943488

Xiong Y, Kullberg S, Garman L, Pezant N, Ellinghaus D, Vasila V, Eklund A, Rybicki BA, Iannuzzi MC, Schreiber S, Müller-Quernheim J, Montgomery CG, Grunewald J, Padyukov L, Rivera NV. Corrigendum: Sex differences in the genetics of sarcoidosis across European and African ancestry populations. Front Med (Lausanne) 11:1382584, 2024 February, PMID: 38449888, PMCID: PMC10915398

Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame D, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga D, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillman RC, Srinivasan VM, Torbati PN, Tos T, Undiagnosed Diseases Network, Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. medRxiv, 2024 January, PMID: 38352438, PMCID: PMC10863025

Isola JVV, Ocañas SR, Hubbart CR, Ko S, Mondal SA, Hense JD, Carter HNC, Schneider A, Kovats S, Alberola-Ila J, Freeman WM, Stout MB. A single-cell atlas of the aging mouse ovary. Nat Aging, 2024 January, PMID: 38200272, PMCID: PMC10798902

2023

Porter HL, Ansere VA, Undi RB, Hoolehan W, Giles CB, Brown CA, Stanford D, Huycke MM, Freeman WM, Wren JD. Methylation Array Signals are Predictive of Chronological Age Without Bisulfite Conversion. bioRxiv, 2023 December, PMID: 38187520, PMCID: PMC10769286

Buryska S, Patel K, Wuertz B, Gaffney PM, Ondrey F. Potential Roles of Activin in Head and Neck Squamous Cell Carcinoma Progression and Mortality. Anticancer Res 43:5299-5310, 2023 December, PMID: 38030164, PMCID: PMC11285815

Casanova NG, Camp SM, Gonzalez-Garay ML, Batai K, Garman L, Montgomery CG, Ellis N, Kittles R, Bime C, Hsu AP, Holland S, Lussier YA, Karnes J, Sweiss N, Maier LA, Koth L, Moller DR, Kaminski N, Garcia JGN. Examination of eQTL Polymorphisms Associated with Increased Risk of Progressive Complicated Sarcoidosis in European and African Descent Subjects. Eur J Respir Med 5:359-371, 2023 December, PMID: 38390497, PMCID: PMC10883688

Kelly JA, Tessneer KL, Gaffney PM. Taming the HLA for single-cell genomics. Nat Genet, 2023 November, PMID: 38036786

Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK. Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. Genome Med 15:102, 2023 November, PMID: 38031187, PMCID: PMC10688095

Blankenship HE, Carter KA, Cassidy NT, Markiewicz AN, Thellmann MI, Sharpe AL, Freeman WM, Beckstead MJ. VTA dopamine neurons are hyperexcitable in 3xTg-AD mice due to casein kinase 2-dependent SK channel dysfunction. bioRxiv, 2023 November, PMID: 38014232, PMCID: PMC10680865

Dezfulian MH, Kula T, Pranzatelli T, Kamitaki N, Meng Q, Khatri B, Perez P, Xu Q, Chang A, Kohlgruber AC, Leng Y, Jupudi AA, Joachims ML, Chiorini JA, Lessard CJ, Darise Farris A, Muthuswamy SK, Warner BM, Elledge SJ. TScan-II: A genome-scale platform for the de novo identification of CD4( ) T cell epitopes. Cell, 2023 November, PMID: 38016469, PMCID: PMC10841602

Tooley KB, Chucair-Elliott AJ, Ocañas SR, Machalinski AH, Pham KD, Hoolehan W, Kulpa AM, Stanford DR, Freeman WM. Differential usage of DNA modifications in neurons, astrocytes, and microglia. Epigenetics Chromatin 16:45, 2023 November, PMID: 37953264, PMCID: PMC10642035

Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Ghayoor Karimiani E, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Akay Tayfun G, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Bahrami Monajemi G, Mohammadi P, Samie S, Banu SH, Basto JP, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Hameed Issa A, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain, 2023 November, PMID: 37951597, PMCID: PMC10994533

Kellogg CM, Pham K, Ko S, Cox JEJ, Machalinski AH, Stout MB, Sharpe AL, Beckstead MJ, Chucair-Elliott AJ, Ocañas SR, Freeman WM. Specificity and efficiency of tamoxifen-mediated Cre induction is equivalent regardless of age. iScience 26:108413, 2023 November, PMID: 38058312, PMCID: PMC10696116

Wiley MM, Khatri B, Joachims ML, Tessneer KL, Stolarczyk AM, Rasmussen A, Anaya JM, Aqrawi LA, Bae SC, Baecklund E, Björk A, Brun JG, Bucher SM, Dand N, Eloranta ML, Engelke F, Forsblad-d'Elia H, Fugmann C, Glenn SB, Gong C, Gottenberg JE, Hammenfors D, Imgenberg-Kreuz J, Jensen JL, Johnsen SJA, Jonsson MV, Kelly JA, Khanam S, Kim K, Kvarnström M, Mandl T, Martín J, Morris DL, Nocturne G, Norheim KB, Olsson P, Palm Ø, Pers JO, Rhodus NL, Sjöwall C, Skarstein K, Taylor KE, Tombleson P, Thorlacius GE, Venuturupalli S, Vital EM, Wallace DJ, Grundahl KM, Radfar L, Brennan MT, James JA, Scofield RH, Gaffney PM, Criswell LA, Jonsson R, Appel S, Eriksson P, Bowman SJ, Omdal R, Rönnblom L, Warner BM, Rischmueller M, Witte T, Farris AD, Mariette X, Shiboski CH, Sjögren’s International Collaborative Clinical Alliance (SICCA), Wahren-Herlenius M, Alarcón-Riquelme ME, PRECISESADS Clinical Consortium, Ng WF, UK Primary Sjögren’s Syndrome Registry, Sivils KL, Guthridge JM, Adrianto I, Vyse TJ, Tsao BP, Nordmark G, Lessard CJ. Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland. bioRxiv, 2023 October, PMID: 39071447, PMCID: PMC11275775

Jiang K, Fu Y, Kelly JA, Gaffney PM, Holmes LC, Jarvis JN. Comparison of the three-dimensional chromatin structures of adolescent and adult peripheral blood B cells: implications for the study of pediatric autoimmune diseases. bioRxiv, 2023 September, PMID: 37745336, PMCID: PMC10515843

Isola JVV, Ocañas SR, Hubbart CR, Ko S, Mondal SA, Hense JD, Carter HNC, Schneider A, Kovats S, Alberola-Ila J, Freeman WM, Stout MB. A single-cell atlas of the aging murine ovary. bioRxiv, 2023 September, PMID: 37162983, PMCID: PMC10168416

Levin AM, She R, Chen Y, Adrianto I, Datta I, Loveless IM, Garman L, Montgomery CG, Li J, Iannuzzi MC, Rybicki BA. Identification of Environmental Exposures Associated with Risk of Sarcoidosis in African Americans. Ann Am Thorac Soc 20:1274-1282, 2023 September, PMID: 37209419, PMCID: PMC10502890

Fu Y, Kelly JA, Gopalakrishnan J, Pelikan RC, Tessneer KL, Pasula S, Grundahl K, Murphy DA, Gaffney PM. Massively Parallel Reporter Assay Confirms Regulatory Potential of hQTLs and Reveals Important Variants in Lupus and Other Autoimmune Diseases. bioRxiv, 2023 August, PMID: 37645944, PMCID: PMC10462090

Ocañas SR, Pham KD, Cox JEJ, Keck AW, Ko S, Ampadu FA, Porter HL, Ansere VA, Kulpa A, Kellogg CM, Machalinski AH, Thomas MA, Wright Z, Chucair-Elliott AJ, Freeman WM. Microglial senescence contributes to female-biased neuroinflammation in the aging mouse hippocampus: implications for Alzheimer's disease. J Neuroinflammation 20:188, 2023 August, PMID: 37587511, PMCID: PMC10433617

Ansere VA, Bubak MP, Miller BF, Freeman WM. Heterochronic Plasma Transfer: Experimental Design, Considerations, and Technical Challenges. Rejuvenation Res, 2023 August, PMID: 37551981, PMCID: PMC10611967

Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki M, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Swayer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingapp L, McDunnah P, Horvath R, Cogne B, Isidor B, Hahn A, Gripp K, Jafarnejad SM, Ostergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder. Genet Med:100938, 2023 July, PMID: 37454282, PMCID: PMC11157694

Liao SY, Jacobson S, Hamzeh NY, Culver DA, Barkes BQ, Mroz M, Macphail K, Pacheco K, Patel DC, Wasfi YS, Koth LL, Langefeld CD, Leach SM, White E, Montgomery C, Maier LA, Fingerlin TE, GRADs Investigators. Genome-wide association study identifies multiple HLA loci for sarcoidosis susceptibility. Hum Mol Genet, 2023 July, PMID: 37399103, PMCID: PMC10407706

Kellogg CM, Pham K, Machalinski AH, Porter HL, Blankenship HE, Tooley KB, Stout MB, Rice HC, Sharpe AL, Beckstead MJ, Chucair-Elliott AJ, Ocañas SR, Freeman WM. Microglial MHC-I induction with aging and Alzheimer's is conserved in mouse models and humans. Geroscience, 2023 July, PMID: 37393197, PMCID: PMC10643718

Corbin JM, Georgescu C, Wang L, Wren JD, Bieniasz M, Xu C, Asch AS, Ruiz Echevarría MJ. An unbiased seed-based RNAi selection screen identifies small RNAs that inhibit androgen signaling and prostate cancer cell growth. Mol Ther Nucleic Acids 33:257-272, 2023 June, PMID: 37554515, PMCID: PMC10404560

Garman L, Pezant N, Dawkins BA, Rasmussen A, Levin AM, Rybicki BA, Iannuzzi MC, Bagavant H, Deshmukh US, Montgomery CG. Inclusivity in Research Matters: Variants in PVT1 Specific to People of African Descent Are Associated with Pulmonary Fibrosis. Am J Respir Crit Care Med, 2023 June, PMID: 37348127, PMCID: PMC10870883

Rasmussen A, Dawkins BA, Li C, Pezant N, Levin AM, Rybicki BA, Iannuzzi MC, Montgomery CG. Multiple Correspondence Analysis and HLA-Associations of Organ Involvement in a Large Cohort of African-American and European-American Patients with Sarcoidosis. Lung, 2023 June, PMID: 37322162, PMCID: PMC10284928

Tooley KB, Chucair-Elliott AJ, Ocañas SR, Machalinski AH, Pham KD, Stanford DR, Freeman WM. Differential usage of DNA modifications in neurons, astrocytes, and microglia. bioRxiv, 2023 June, PMID: 37333391, PMCID: PMC10274634

Kellogg CM, Pham K, Machalinski AH, Porter HL, Blankenship HE, Tooley K, Stout MB, Rice HC, Sharpe AL, Beckstead MJ, Chucair-Elliott AJ, Ocañas SR, Freeman WM. Microglial MHC-I induction with aging and Alzheimer's is conserved in mouse models and humans. bioRxiv, 2023 June, PMID: 36945372, PMCID: PMC10028873

Ocañas SR, Pham KD, Cox JEJ, Keck AW, Ko S, Ampadu FA, Porter HL, Ansere VA, Kulpa A, Kellogg CM, Machalinski AH, Chucair-Elliott AJ, Freeman WM. Microglial senescence contributes to female-biased neuroinflammation in the aging mouse hippocampus: implications for Alzheimer's disease. bioRxiv, 2023 June, PMID: 36945656, PMCID: PMC10028852

Mohammed S, Thadathil N, Ohene-Marfo P, Tran AL, Van Der Veldt M, Georgescu C, Oh S, Nicklas EH, Wang D, Haritha NH, Luo W, Janknecht R, Miller BF, Wren JD, Freeman WM, Deepa SS. Absence of either Ripk3 or Mlkl reduces incidence of hepatocellular carcinoma independent of liver fibrosis. Mol Cancer Res, 2023 May, PMID: 37204757, PMCID: PMC10472095

Min J, Yang S, Cai Y, Vanderwall DR, Wu Z, Li S, Liu S, Liu B, Wang J, Ding Y, Chen J, Jiang C, Wren JD, Csiszar A, Ungvari Z, Greco C, Kanie T, Peng J, Zhang XA. Tetraspanin Tspan8 restrains interferon signaling to stabilize intestinal epithelium by directing endocytosis of interferon receptor. Cell Mol Life Sci 80:154, 2023 May, PMID: 37204469, PMCID: PMC10484302

Xiong Y, Kullberg S, Garman L, Pezant N, Ellinghaus D, Vasila V, Eklund A, Rybicki BA, Iannuzzi MC, Schreiber S, Müller-Quernheim J, Montgomery CG, Grunewald J, Padyukov L, Rivera NV. Sex differences in the genetics of sarcoidosis across European and African ancestry populations. Front Med (Lausanne) 10:1132799, 2023 May, PMID: 37250650, PMCID: PMC10213734

Longobardi S, Lopez-Davis C, Khatri B, Georgescu C, Pritchett-Frazee C, Lawrence C, Rasmussen A, Radfar L, Scofield RH, Baer AN, Robinson SA, Darrah E, Axtell RC, Pardo G, Wren JD, Koelsch KA, Guthridge JM, James JA, Lessard CJ, Farris AD. Autoantibodies identify primary Sjögren's syndrome in patients lacking serum IgG specific for Ro/SS-A and La/SS-B. Ann Rheum Dis, 2023 May, PMID: 37147113, PMCID: PMC10546962

Subramaniyan B, Gurung S, Bodas M, Moore AR, Larabee JL, Reuter D, Georgescu C, Wren JD, Myers DA, Papin JF, Walters MS. The Isolation and In Vitro Differentiation of Primary Fetal Baboon Tracheal Epithelial Cells for the Study of SARS-CoV-2 Host-Virus Interactions. Viruses 15, 2023 March, PMID: 37112842, PMCID: PMC10146425

Stout MB, Vaughan KL, Isola JVV, Mann SN, Wellman B, Hoffman JM, Porter HL, Freeman WM, Mattison JA. Assessing tolerability and physiological responses to 17α-estradiol administration in male rhesus macaques. Geroscience, 2023 March, PMID: 36897526, PMCID: PMC10651821

Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K, Genomics England Research Consortium, Solve-RD consortium, Varshney GK, Banka S. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. HGG Adv 4:100186, 2023 March, PMID: 37009414, PMCID: PMC10064225

Felten R, Ye T, Schleiss C, Schwikowski B, Sibilia J, Monneaux F, Dumortier H, Jonsson R, Lessard C, Ng F, Takeuchi T, Mariette X, Gottenberg JE. Identification of new candidate drugs for primary Sjögren's syndrome using a drug repurposing transcriptomic approach. Rheumatology (Oxford), 2023 March, PMID: 36869684, PMCID: PMC10629788

Chioma OS, Mallott E, Shah-Gandhi B, Wiggins Z, Langford M, Lancaster AW, Gelbard A, Wu H, Johnson JE, Lancaster L, Wilfong EM, Crofford LJ, Montgomery CG, Van Kaer L, Bordenstein S, Newcomb DC, Drake WP. Low Gut Microbial Diversity Augments Estrogen-Driven Pulmonary Fibrosis in Female-Predominant Interstitial Lung Disease. Cells 12, 2023 February, PMID: 36899902, PMCID: PMC10000459

Ocañas SR, Isola JVV, Saccon TD, Pham KD, Chucair-Elliott AJ, Schneider A, Freeman WM, Stout MB. Cell-Specific Paired Interrogation of the Mouse Ovarian Epigenome and Transcriptome. J Vis Exp, 2023 February, PMID: 36912526, PMCID: PMC10165884

Ocañas SR, Ansere VA, Kellogg CM, Isola JVV, Chucair-Elliott AJ, Freeman WM. Chromosomal and gonadal factors regulate microglial sex effects in the aging brain. Brain Res Bull, 2023 February, PMID: 36804773, PMCID: PMC10810555

Ding Y, Chen J, Li S, Wren JD, Bajpai AK, Wang J, Tanaka T, Rice HC, Hays FA, Lu L, Zhang XA. EWI2 and its relatives in Tetraspanin-enriched membrane domains regulate malignancy. Oncogene, 2023 February, PMID: 36788350

Jun G, English AC, Metcalf GA, Yang J, Chaisson MJ, Pankratz N, Menon VK, Salerno WJ, Krasheninina O, Smith AV, Lane JA, Blackwell T, Kang HM, Salvi S, Meng Q, Shen H, Pasham D, Bhamidipati S, Kottapalli K, Arnett DK, Ashley-Koch A, Auer PL, Beutel KM, Bis JC, Blangero J, Bowden DW, Brody JA, Cade BE, Chen YI, Cho MH, Curran JE, Fornage M, Freedman BI, Fingerlin T, Gelb BD, Hou L, Hung YJ, Kane JP, Kaplan R, Kim W, Loos RJF, Marcus GM, Mathias RA, McGarvey ST, Montgomery C, Naseri T, Nouraie SM, Preuss MH, Palmer ND, Peyser PA, Raffield LM, Ratan A, Redline S, Reupena S, Rotter JI, Rich SS, Rienstra M, Ruczinski I, Sankaran VG, Schwartz DA, Seidman CE, Seidman JG, Silverman EK, Smith JA, Stilp A, Taylor KD, Telen MJ, Weiss ST, Williams LK, Wu B, Yanek LR, Zhang Y, Lasky-Su J, Gingras MC, Dutcher SK, Eichler EE, Gabriel S, Germer S, Kim R, Viaud-Martinez KA, Nickerson DA, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Luo J, Reiner A, Gibbs RA, Boerwinkle E, Abecasis G, Sedlazeck FJ. Structural variation across 138,134 samples in the TOPMed consortium. Res Sq, 2023 February, PMID: 36778386, PMCID: PMC9915771

Jun G, English AC, Metcalf GA, Yang J, Chaisson MJ, Pankratz N, Menon VK, Salerno WJ, Krasheninina O, Smith AV, Lane JA, Blackwell T, Kang HM, Salvi S, Meng Q, Shen H, Pasham D, Bhamidipati S, Kottapalli K, Arnett DK, Ashley-Koch A, Auer PL, Beutel KM, Bis JC, Blangero J, Bowden DW, Brody JA, Cade BE, Chen YI, Cho MH, Curran JE, Fornage M, Freedman BI, Fingerlin T, Gelb BD, Hou L, Hung YJ, Kane JP, Kaplan R, Kim W, Loos RJF, Marcus GM, Mathias RA, McGarvey ST, Montgomery C, Naseri T, Nouraie SM, Preuss MH, Palmer ND, Peyser PA, Raffield LM, Ratan A, Redline S, Reupena S, Rotter JI, Rich SS, Rienstra M, Ruczinski I, Sankaran VG, Schwartz DA, Seidman CE, Seidman JG, Silverman EK, Smith JA, Stilp A, Taylor KD, Telen MJ, Weiss ST, Williams LK, Wu B, Yanek LR, Zhang Y, Lasky-Su J, Gingras MC, Dutcher SK, Eichler EE, Gabriel S, Germer S, Kim R, Viaud-Martinez KA, Nickerson DA, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Luo J, Reiner A, Gibbs RA, Boerwinkle E, Abecasis G, Sedlazeck FJ. Structural variation across 138,134 samples in the TOPMed consortium. bioRxiv, 2023 January, PMID: 36747810, PMCID: PMC9900832

Hopiavuori BR, Masser DR, Wilkerson JL, Brush RS, Mandal NA, Anderson RE, Freeman WM. Isolation of Neuronal Synaptic Membranes by Sucrose Gradient Centrifugation. Methods Mol Biol 2625:7-15, 2023 January, PMID: 36653629

Shen Y, Khatri B, Rananaware S, Li D, Ostrov DA, Jain PK, Lessard CJ, Nguyen CQ. Ancestral origins are associated with SARS-CoV-2 susceptibility and protection in a Florida patient population. PLoS One 18:e0276700, 2023 January, PMID: 36649279, PMCID: PMC9844918

Isola JVV, Ko S, Ocañas SR, Stout MB. Role of Estrogen Receptor α in Aging and Chronic Disease. Adv Geriatr Med Res 5, 2023 January, PMID: 37425648, PMCID: PMC10327608

Bagavant H, Araszkiewicz AM, Rasmussen A, Pezant N, Montgomery C, Scofield RH, Farris D, Lessard CJ, Deshmukh US. Anti-vimentin antibodies are associated with higher severity of Sjögren's disease. Clin Immunol 247:109243, 2023 January, PMID: 36702181, PMCID: PMC10037908

2022

Ali Mondal S, Sathiaseelan R, Mann SN, Kamal M, Luo W, Saccon TD, Isola JV, Peelor FF 3rd, Li T, Freeman WF, Miller BF, Stout MB. 17α-estradiol, a lifespan-extending compound, attenuates liver fibrosis by modulating collagen turnover rates in male mice. Am J Physiol Endocrinol Metab, 2022 December, PMID: 36516471, PMCID: PMC9902223

Chucair-Elliott AJ, Ocañas SR, Pham K, Van Der Veldt M, Cheyney A, Stanford D, Gurley J, Elliott MH, Freeman WM. Translatomic response of retinal Müller glia to acute and chronic stress. Neurobiol Dis 175:105931, 2022 November, PMID: 36423879, PMCID: PMC9875566

Joachims ML, Khatri B, Li C, Tessneer KL, Ice JA, Stolarczyk AM, Means N, Grundahl KM, Glenn SB, Kelly JA, Lewis DM, Radfar L, Stone DU, Guthridge JM, James JA, Scofield RH, Wiley GB, Wren JD, Gaffney PM, Montgomery CG, Sivils KL, Rasmussen A, Farris AD, Adrianto I, Lessard CJ. Dysregulated long non-coding RNA in Sjögren's disease impacts both interferon and adaptive immune responses. RMD Open 8, 2022 November, PMID: 36456101, PMCID: PMC9717416

Brown JL, Peelor FF 3rd, Georgescu C, Wren JD, Kinter M, Tyrrell VJ, O'Donnell VB, Miller BF, Van Remmen H. Lipid hydroperoxides and oxylipins are mediators of denervation induced muscle atrophy. Redox Biol 57:102518, 2022 October, PMID: 36283174, PMCID: PMC9593840

Varshney P, Varshney GK. Expanded precision genome-editing toolbox for human disease modeling in zebrafish. Lab Anim (NY), 2022 October, PMID: 36241739

Wren JD, Georgescu C. Detecting anomalous referencing patterns in PubMed papers suggestive of author-centric reference list manipulation. Scientometrics 127:5753-5771, 2022 October, PMID: 38312756, PMCID: PMC10836843

Pasula S, Gopalakrishnan J, Fu Y, Tessneer KL, Wiley MM, Pelikan RC, Kelly JA, Gaffney PM. Systemic lupus erythematosus variants modulate the function of an enhancer upstream of TNFAIP3. Front Genet 13:1011965, 2022 September, PMID: 36199584, PMCID: PMC9527318

Hardin A, Dawkins B, Pezant N, Rasmussen A, Montgomery C. Genetics of neurosarcoidosis. J Neuroimmunol 372:577957, 2022 August, PMID: 36054933

Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM, SYNaPS Study Group., Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease. Genet Med, 2022 August, PMID: 36001086

Beans JA, Trinidad SB, Blacksher E, Hiratsuka VY, Spicer P, Woodahl EL, Boyer BB, Lewis CM Jr, Gaffney PM, Garrison NA, Burke W. Communicating Precision Medicine Research: Multidisciplinary Teams and Diverse Communities. Public Health Genomics:1-9, 2022 August, PMID: 35998578, PMCID: PMC9947193

Jang SK, Evans L, Fialkowski A, Arnett DK, Ashley-Koch AE, Barnes KC, Becker DM, Bis JC, Blangero J, Bleecker ER, Boorgula MP, Bowden DW, Brody JA, Cade BE, Jenkins BWC, Carson AP, Chavan S, Cupples LA, Custer B, Damrauer SM, David SP, de Andrade M, Dinardo CL, Fingerlin TE, Fornage M, Freedman BI, Garrett ME, Gharib SA, Glahn DC, Haessler J, Heckbert SR, Hokanson JE, Hou L, Hwang SJ, Hyman MC, Judy R, Justice AE, Kaplan RC, Kardia SLR, Kelly S, Kim W, Kooperberg C, Levy D, Lloyd-Jones DM, Loos RJF, Manichaikul AW, Gladwin MT, Martin LW, Nouraie M, Melander O, Meyers DA, Montgomery CG, North KE, Oelsner EC, Palmer ND, Payton M, Peljto AL, Peyser PA, Preuss M, Psaty BM, Qiao D, Rader DJ, Rafaels N, Redline S, Reed RM, Reiner AP, Rich SS, Rotter JI, Schwartz DA, Shadyab AH, Silverman EK, Smith NL, Smith JG, Smith AV, Smith JA, Tang W, Taylor KD, Telen MJ, Vasan RS, Gordeuk VR, Wang Z, Wiggins KL, Yanek LR, Yang IV, Young KA, Young KL, Zhang Y, Liu DJ, Keller MC, Vrieze S. Rare genetic variants explain missing heritability in smoking. Nat Hum Behav, 2022 August, PMID: 35927319, PMCID: PMC9985486

Khatri B, Tessneer KL, Rasmussen A, Aghakhanian F, Reksten TR, Adler A, Alevizos I, Anaya JM, Aqrawi LA, Baecklund E, Brun JG, Bucher SM, Eloranta ML, Engelke F, Forsblad-d'Elia H, Glenn SB, Hammenfors D, Imgenberg-Kreuz J, Jensen JL, Johnsen SJA, Jonsson MV, Kvarnström M, Kelly JA, Li H, Mandl T, Martín J, Nocturne G, Norheim KB, Palm Ø, Skarstein K, Stolarczyk AM, Taylor KE, Teruel M, Theander E, Venuturupalli S, Wallace DJ, Grundahl KM, Hefner KS, Radfar L, Lewis DM, Stone DU, Kaufman CE, Brennan MT, Guthridge JM, James JA, Scofield RH, Gaffney PM, Criswell LA, Jonsson R, Eriksson P, Bowman SJ, Omdal R, Rönnblom L, Warner B, Rischmueller M, Witte T, Farris AD, Mariette X, Alarcon-Riquelme ME, PRECISESADS Clinical Consortium., Shiboski CH, Sjögren’s International Collaborative Clinical Alliance (SICCA)., Wahren-Herlenius M, Ng WF, UK Primary Sjögren’s Syndrome Registry., Sivils KL, Adrianto I, Nordmark G, Lessard CJ. Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells. Nat Commun 13:4287, 2022 July, PMID: 35896530, PMCID: PMC9329286

Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK. Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. Hum Mutat, 2022 July, PMID: 35815345, PMCID: PMC10281862

Bögershausen N, Krawczyk HE, Jamra RA, Lin SJ, Yigit G, Hüning I, Polo AM, Vona B, Huang K, Schmidt J, Altmüller J, Luppe J, Platzer K, Dörgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS, Zibat A, Bültmann E, Nürnberg P, Spielmann M, Lemke JR, Li Y, Zenker M, Varshney GK, Hillen HS, Kratz CP, Wollnik B. WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly. Hum Mutat, 2022 July, PMID: 35790048

Gorbsky GJ, Daum JR, Sapkota H, Summala K, Yoshida H, Georgescu C, Wren JD, Peshkin L, Horb ME. Developing immortal cell lines from Xenopus embryos, four novel cell lines derived from Xenopus tropicalis. Open Biol 12:220089, 2022 July, PMID: 35857907, PMCID: PMC9256088

Fu C, Wang J, Pallikkuth S, Ding Y, Chen J, Wren JD, Yang Y, Wong KK, Kameyama H, Jayaraman M, Munshi A, Tanaka T, Lidke KA, Zhang XA. EWI2 prevents EGFR from clustering and endocytosis to reduce tumor cell movement and proliferation. Cell Mol Life Sci 79:389, 2022 June, PMID: 35773608

Trutschel D Dr rer nat, Bost P, Mariette X, Bondet V, Llibre A, Posseme C, Charbit B, Thorball CW, Jonsson R Prof, Lessard CJ, Felten R, Ng WF Prof, Chatenoud L Prof, Dumortier H, Sibilia J, Fellay J, Brokstad KA Prof, Appel S Prof Dr rer nat, Tarn Dr JR, Murci LQ Prof Dr, Mingueneau M, Meyer N, Duffy D, Schwikowski B, Gottenberg JE, Milieu Interieur, ASSESS investigators, and NECESSITY consortium.. Variability in primary Sjögren's syndrome is driven by interferon alpha, and genetically associated with the class II HLA DQ locus. Arthritis Rheumatol, 2022 June, PMID: 35726083, PMCID: PMC10092541

Meas R, Nititham J, Taylor KE, Maher S, Clairmont K, Carufe KEW, Kashgarian M, Nottoli T, Cheong A, Nagel ZD, Gaffney PM, Criswell LA, Sweasy JB. A Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus-like Disease in Mice. ACR Open Rheumatol, 2022 June, PMID: 35708944, PMCID: PMC9469486

Coit P, Roopnarinesingh X, Ortiz-Fernández L, McKinnon-Maksimowicz K, Lewis EE, Merrill JT, McCune WJ, Wren JD, Sawalha AH. Hypomethylation of miR-17-92 cluster in lupus T cells and no significant role for genetic factors in the lupus-associated DNA methylation signature. Ann Rheum Dis, 2022 June, PMID: 35710306, PMCID: PMC10259175

Dawkins BA, Garman L, Cejda N, Pezant N, Rasmussen A, Rybicki BA, Levin AM, Benchek P, Seshadri C, Mayanja-Kizza H, Iannuzzi MC, Stein CM, Montgomery CG. Novel HLA associations with outcomes of Mycobacterium tuberculosis exposure and sarcoidosis in individuals of African ancestry using nearest-neighbor feature selection. Genet Epidemiol, 2022 June, PMID: 35702824, PMCID: PMC10237150

Allani SK, Rayala R, Rivera O, Prentice HM, Chen X, Ramírez-Alcántara V, Canzoneri J, Menzie-Suderam J, Huang X, Georgescu C, Wren JD, Piazza GA, Weissbach H. A novel sulindac derivative protects against oxidative damage by a cyclooxygenase-independent mechanism. J Pharmacol Exp Ther, 2022 June, PMID: 35680377, PMCID: PMC9341458

Vanderlinden LA, Bemis EA, Seifert J, Guthridge JM, Young KA, Demoruelle MK, Feser M, DeJager W, Macwana S, Mikuls TR, O'Dell JR, Weisman MH, Buckner J, Keating RM, Gaffney PM, Kelly JA, Langefeld CD, Deane KD, James JA, Holers VM, Norris JM. Relationship Between a Vitamin D Genetic Risk Score and Autoantibodies Among First-Degree Relatives of Probands With Rheumatoid Arthritis and Systemic Lupus Erythematosus. Front Immunol 13:881332, 2022 June, PMID: 35720397, PMCID: PMC9205604

Ocañas SR, Ansere VA, Tooley KB, Hadad N, Chucair-Elliott AJ, Stanford DR, Rice S, Wronowski B, Pham KD, Hoffman JM, Austad SN, Stout MB, Freeman WM. Differential Regulation of Mouse Hippocampal Gene Expression Sex Differences by Chromosomal Content and Gonadal Sex. Mol Neurobiol, 2022 May, PMID: 35589920, PMCID: PMC9119800

Nair GKG, Pollalis D, Wren JD, Georgescu C, Sjoelund V, Lee SY. Proteomic Insight into the Role of Exosomes in Proliferative Vitreoretinopathy Development. J Clin Med 11, 2022 May, PMID: 35628842, PMCID: PMC9143131

Bagavant H, Cizio K, Araszkiewicz AM, Papinska JA, Garman L, Li C, Pezant N, Drake WP, Montgomery CG, Deshmukh US. Systemic immune response to vimentin and granuloma formation in a model of pulmonary sarcoidosis. J Transl Autoimmun 5:100153, 2022 April, PMID: 35434591, PMCID: PMC9006845

Wang J, Wren JD, Ding Y, Chen J, Mittal N, Xu C, Li X, Zeng C, Wang M, Shi J, Zhang YH, Han SJ, Zhang XA. EWI2 promotes endolysosome-mediated turnover of growth factor receptors and integrins to suppress lung cancer. Cancer Lett:215641, 2022 March, PMID: 35339615, PMCID: PMC9036562

Ocañas SR, Pham KD, Blankenship HE, Machalinski AH, Chucair-Elliott AJ, Freeman WM. Minimizing the ex vivo confounds of cell-isolation techniques on transcriptomic and translatomic profiles of purified microglia. eNeuro, 2022 February, PMID: 35228310, PMCID: PMC8970438

Ahn B, Ranjit R, Kneis P, Xu H, Piekarz KM, Freeman WM, Kinter M, Richardson A, Ran Q, Brooks SV, Van Remmen H. Scavenging mitochondrial hydrogen peroxide by peroxiredoxin 3 overexpression attenuates contractile dysfunction and muscle atrophy in a murine model of accelerated sarcopenia. Aging Cell:e13569, 2022 February, PMID: 35199907, PMCID: PMC8920438

Habicher J, Varshney GK, Waldmann L, Snitting D, Allalou A, Zhang H, Ghanem A, Öhman Mägi C, Dierker T, Kjellén L, Burgess SM, Ledin J. Chondroitin/dermatan sulfate glycosyltransferase genes are essential for craniofacial development. PLoS Genet 18:e1010067, 2022 February, PMID: 35192612, PMCID: PMC8896900

Roopnarinesingh XR, Porter H, Giles C, Brown C, Georgescu C, Wren J. Multi-tissue DNA methylation microarray signature is predictive of gene function. Epigenetics:1-15, 2022 February, PMID: 35152835, PMCID: PMC9586602

Kiss T, Nyúl-Tóth Á, Gulej R, Tarantini S, Csipo T, Mukli P, Ungvari A, Balasubramanian P, Yabluchanskiy A, Benyo Z, Conley SM, Wren JD, Garman L, Huffman DM, Csiszar A, Ungvari Z. Old blood from heterochronic parabionts accelerates vascular aging in young mice: transcriptomic signature of pathologic smooth muscle remodeling. Geroscience, 2022 February, PMID: 35124764, PMCID: PMC9135944

Song CJ, Li Z, Ahmed UKB, Bland SJ, Yashchenko A, Liu S, Aloria EJ, Lever JM, Gonzalez NM, Bickel MA, Giles CB, Georgescu C, Wren JD, Lang ML, Benveniste EN, Harrington LE, Tsiokas L, George JF, Jones KL, Crossman DK, Agarwal A, Mrug M, Yoder BK, Hopp K, Zimmerman KA. A Comprehensive Immune Cell Atlas of Cystic Kidney Disease Reveals the Involvement of Adaptive Immune Cells in Injury-Mediated Cyst Progression in Mice. J Am Soc Nephrol, 2022 February, PMID: 35110364, PMCID: PMC8970461

Taub MA, Conomos MP, Keener R, Iyer KR, Weinstock JS, Yanek LR, Lane J, Miller-Fleming TW, Brody JA, Raffield LM, McHugh CP, Jain D, Gogarten SM, Laurie CA, Keramati A, Arvanitis M, Smith AV, Heavner B, Barwick L, Becker LC, Bis JC, Blangero J, Bleecker ER, Burchard EG, Celedón JC, Chang YPC, Custer B, Darbar D, de Las Fuentes L, DeMeo DL, Freedman BI, Garrett ME, Gladwin MT, Heckbert SR, Hidalgo BA, Irvin MR, Islam T, Johnson WC, Kaab S, Launer L, Lee J, Liu S, Moscati A, North KE, Peyser PA, Rafaels N, Seidman C, Weeks DE, Wen F, Wheeler MM, Williams LK, Yang IV, Zhao W, Aslibekyan S, Auer PL, Bowden DW, Cade BE, Chen Z, Cho MH, Cupples LA, Curran JE, Daya M, Deka R, Eng C, Fingerlin TE, Guo X, Hou L, Hwang SJ, Johnsen JM, Kenny EE, Levin AM, Liu C, Minster RL, Naseri T, Nouraie M, Reupena MS, Sabino EC, Smith JA, Smith NL, Su JL, Taylor JG, Telen MJ, Tiwari HK, Tracy RP, White MJ, Zhang Y, Wiggins KL, Weiss ST, Vasan RS, Taylor KD, Sinner MF, Silverman EK, Shoemaker MB, Sheu WH, Sciurba F, Schwartz DA, Rotter JI, Roden D, Redline S, Raby BA, Psaty BM, Peralta JM, Palmer ND, Nekhai S, Montgomery CG, Mitchell BD, Meyers DA, McGarvey ST, NHLBI CARE Network., Mak AC, Loos RJ, Kumar R, Kooperberg C, Konkle BA, Kelly S, Kardia SL, Kaplan R, He J, Gui H, Gilliland FD, Gelb BD, Fornage M, Ellinor PT, de Andrade M, Correa A, Chen YI, Boerwinkle E, Barnes KC, Ashley-Koch AE, Arnett DK, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium., TOPMed Hematology and Hemostasis Working Group., TOPMed Structural Variation Working Group., Laurie CC, Abecasis G, Nickerson DA, Wilson JG, Rich SS, Levy D, Ruczinski I, Aviv A, Blackwell TW, Thornton T, O'Connell J, Cox NJ, Perry JA, Armanios M, Battle A, Pankratz N, Reiner AP, Mathias RA. Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed. Cell Genom 2, 2022 January, PMID: 35530816, PMCID: PMC9075703

Piekarz KM, Georgescu C, Wren JD, Towner RA, Van Remmen H. Pharmacologic treatment with OKN-007 reduces alpha-motor neuron loss in spinal cord of aging mice. Geroscience, 2022 January, PMID: 34984634, PMCID: PMC8811061

2021

Norheim KB, Imgenberg-Kreuz J, Alexsson A, Johnsen SJA, Bårdsen K, Brun JG, Dehkordi RK, Theander E, Mandl T, Jonsson R, Ng WF, Lessard CJ, Rasmussen A, Sivilis K, Ronnblom L, Omdal R. Genetic variants at the RTP4/MASP1 locus are associated with fatigue in Scandinavian patients with primary Sjögren's syndrome. RMD Open 7, 2021 December, PMID: 34907023, PMCID: PMC8671987

Sharpe AL, Trzeciak M, Eliason NL, Blankenship HE, Byrd BAM, Douglas PD, Freeman WM, Beckstead MJ. Repeated cocaine or methamphetamine treatment alters astrocytic CRF2 and GLAST expression in the ventral midbrain. Addict Biol:e13120, 2021 November, PMID: 34825430

Bodas M, Subramaniyan B, Moore AR, Metcalf JP, Ocañas SR, Freeman WM, Georgescu C, Wren JD, Walters MS. The NOTCH3 Downstream Target HEYL Is Required for Efficient Human Airway Basal Cell Differentiation. Cells 10, 2021 November, PMID: 34831437, PMCID: PMC8620267

Garton J, Shankar M, Chapman B, Rose K, Gaffney PM, Webb CF. Deficiencies in the DNA Binding Protein ARID3a Alter Chromatin Structures Important for Early Human Erythropoiesis. Immunohorizons 5:802-817, 2021 October, PMID: 34663594, PMCID: PMC8900713

Porter HL, Brown CA, Roopnarinesingh X, Giles CB, Georgescu C, Freeman WM, Wren JD. Many chronological aging clocks can be found throughout the epigenome: Implications for quantifying biological aging. Aging Cell:e13492, 2021 October, PMID: 34655509, PMCID: PMC8590098

Van Remmen H, Freeman WM, Miller BF, Kinter M, Wren JD, Chiao A, Towner RA, Snider TA, Sonntag WE, Richardson A. Oklahoma Nathan Shock Aging Center - assessing the basic biology of aging from genetics to protein and function. Geroscience, 2021 October, PMID: 34606039, PMCID: PMC8599778

Kurup K, Mann SN, Jackson J, Matyi S, Ranjo-Bishop M, Freeman WM, Stout MB, Richardson A, Unnikrishnan A. Litter expansion alters metabolic homeostasis in a sex specific manner. PLoS One 16:e0237199, 2021 September, PMID: 34587168, PMCID: PMC8480909

Rodrigues ACZ, Messi ML, Wang ZM, Bonilla HJ, Freeman WM, Delbono O. Long-term, induced expression of Hand2 in peripheral sympathetic neurons ameliorates sarcopenia in geriatric mice. J Cachexia Sarcopenia Muscle, 2021 September, PMID: 34546662, PMCID: PMC8718059

Witas R, Rasmussen A, Scofield RH, Radfar L, Stone DU, Grundahl K, Lewis D, Sivils KL, Lessard CJ, Farris AD, Nguyen CQ. Defective Efferocytosis in a Murine Model of Sjögren's Syndrome Is Mediated by Dysfunctional Mer Tyrosine Kinase Receptor. Int J Mol Sci 22, 2021 September, PMID: 34575873, PMCID: PMC8466327

Edwards SL, Erdenebat P, Morphis AC, Kumar L, Wang L, Chamera T, Georgescu C, Wren JD, Li J. Insulin/IGF-1 signaling and heat stress differentially regulate HSF1 activities in germline development. Cell Rep 36:109623, 2021 August, PMID: 34469721, PMCID: PMC8442575

Seplyarskiy VB, Soldatov RA, Koch E, McGinty RJ, Goldmann JM, Hernandez RD, Barnes K, Correa A, Burchard EG, Ellinor PT, McGarvey ST, Mitchell BD, Vasan RS, Redline S, Silverman E, Weiss ST, Arnett DK, Blangero J, Boerwinkle E, He J, Montgomery C, Rao DC, Rotter JI, Taylor KD, Brody JA, Chen YI, de Las Fuentes L, Hwu CM, Rich SS, Manichaikul AW, Mychaleckyj JC, Palmer ND, Smith JA, Kardia SLR, Peyser PA, Bielak LF, O'Connor TD, Emery LS, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Population Genetics Working Group, Gilissen C, Wong WSW, Kharchenko PV, Sunyaev S. Population sequencing data reveal a compendium of mutational processes in the human germ line. Science 373:1030-1035, 2021 August, PMID: 34385354, PMCID: PMC9217108

Subramaniyan B, Larabee JL, Bodas M, Moore AR, Burgett AWG, Myers DA, Georgescu C, Wren JD, Papin JF, Walters MS. Characterization of the SARS-CoV-2 Host Response in Primary Human Airway Epithelial Cells from Aged Individuals. Viruses 13, 2021 August, PMID: 34452468, PMCID: PMC8402710

Gopalakrishnan J, Tessneer KL, Fu Y, Pasula S, Pelikan RC, Kelly JA, Wiley GB, Gaffney PM. Variants on the UBE2L3-YDJC autoimmune disease risk haplotype increase UBE2L3 gene expression by modulating CTCF and YY1 binding. Arthritis Rheumatol, 2021 July, PMID: 34279042, PMCID: PMC8712360

Shin U, Nakhro K, Oh CK, Carrington B, Song H, Varshney GK, Kim Y, Song H, Jeon S, Robbins G, Kim S, Yoon S, Choi YJ, Kim YJ, Burgess S, Kang S, Sood R, Lee Y, Myung K. Large-scale generation and phenotypic characterization of zebrafish CRISPR mutants of DNA repair genes. DNA Repair (Amst) 107:103173, 2021 July, PMID: 34390914

Lin SJ, Vona B, Barbalho PG, Kaiyrzhanov R, Maroofian R, Petree C, Severino M, Stanley V, Varshney P, Bahena P, Alzahrani F, Alhashem A, Pagnamenta AT, Aubertin G, Estrada-Veras JI, Hernández HAD, Mazaheri N, Oza A, Thies J, Renaud DL, Dugad S, McEvoy J, Sultan T, Pais LS, Tabarki B, Villalobos-Ramirez D, Rad A, Genomics England Research Consortium., Galehdari H, Ashrafzadeh F, Sahebzamani A, Saeidi K, Torti E, Elloumi HZ, Mora S, Palculict TB, Yang H, Wren JD, Ben Fowler, Joshi M, Behra M, Burgess SM, Nath SK, Hanna MG, Kenna M, Merritt JL 2nd, Houlden H, Karimiani EG, Zaki MS, Haaf T, Alkuraya FS, Gleeson JG, Varshney GK. Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish. Genet Med, 2021 June, PMID: 34172899, PMCID: PMC8956360

Singh B, Maiti GP, Zhou X, Fazel-Najafabadi M, Bae SC, Sun C, Terao C, Okada Y, Chua KH, Kochi Y, Guthridge JM, Zhang H, Weirauch M, James JA, Harley JB, Varshney GK, Looger LL, Nath SK. Lupus susceptibility region containing CDKN1B rs34330 mechanistically influences expression and function of multiple target genes, also linked to proliferation and apoptosis. Arthritis Rheumatol, 2021 May, PMID: 33982894, PMCID: PMC8589926

Colón-Cruz L, Rodriguez-Morales R, Santana-Cruz A, Cantres-Velez J, Torrado-Tapias A, Lin SJ, Yudowski G, Kensler R, Marie B, Burgess SM, Renaud O, Varshney GK, Behra M. Cnr2 Is Important for Ribbon Synapse Maturation and Function in Hair Cells and Photoreceptors. Front Mol Neurosci 14:624265, 2021 April, PMID: 33958989, PMCID: PMC8093779

Sun G, Chen J, Ding Y, Wren JD, Xu F, Lu L, Wang Y, Wang DW, Zhang XA. A Bioinformatics Perspective on the Links Between Tetraspanin-Enriched Microdomains and Cardiovascular Pathophysiology. Front Cardiovasc Med 8:630471, 2021 March, PMID: 33860000, PMCID: PMC8042132

Kwong AM, Blackwell TW, LeFaive J, de Andrade M, Barnard J, Barnes KC, Blangero J, Boerwinkle E, Burchard EG, Cade BE, Chasman DI, Chen H, Conomos MP, Cupples LA, Ellinor PT, Eng C, Gao Y, Guo X, Ryan Irvin M, Kelly TN, Kim W, Kooperberg C, Lubitz SA, Mak ACY, Manichaikul AW, Mathias RA, Montasser ME, Montgomery CG, Musani S, Palmer ND, Peloso GM, Qiao D, Reiner AP, Roden DM, Shoemaker MB, Smith JA, Smith NL, Lasky Su J, Tiwari HK, Weeks DE, Weiss ST, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Analysis Working Group., Scott LJ, Smith AV, Abecasis GR, Boehnke M, Min Kang H. Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries. Genetics, 2021 March, PMID: 33720349, PMCID: PMC8128395

Kurup K, Matyi S, Giles CB, Wren JD, Jones K, Ericsson A, Raftery D, Wang L, Promislow D, Richardson A, Unnikrishnan A. Calorie restriction prevents age-related changes in the intestinal microbiota. Aging (Albany NY) 13:6298-6329, 2021 March, PMID: 33744869, PMCID: PMC7993711

Corbin JM, Georgescu C, Wren JD, Xu C, Asch AS, Ruiz-Echevarría MJ. Seed-mediated RNA interference of androgen signaling and survival networks induces cell death in prostate cancer cells. Mol Ther Nucleic Acids 24:337-351, 2021 March, PMID: 33850637, PMCID: PMC8022159

Dwivedi SKD, Rao G, Dey A, Mukherjee P, Wren JD, Bhattacharya R. Small Non-Coding-RNA in Gynecological Malignancies. Cancers (Basel) 13, 2021 March, PMID: 33802524, PMCID: PMC7961667

Tarbell E, Jiang K, Hennon TR, Holmes L, Williams S, Fu Y, Gaffney PM, Liu T, Jarvis JN. CD4  T cells from children with active juvenile idiopathic arthritis show altered chromatin features associated with transcriptional abnormalities. Sci Rep 11:4011, 2021 February, PMID: 33597588, PMCID: PMC7889855

Shi C, Ray-Jones H, Ding J, Duffus K, Fu Y, Gaddi VP, Gough O, Hankinson J, Martin P, McGovern A, Yarwood A, Gaffney P, Eyre S, Rattray M, Warren RB, Orozco G. Chromatin looping links target genes with genetic risk loci for dermatological traits. J Invest Dermatol, 2021 February, PMID: 33607115, PMCID: PMC8315765

Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAG, Corvelo A, Gogarten SM, Kang HM, Pitsillides AN, LeFaive J, Lee SB, Tian X, Browning BL, Das S, Emde AK, Clarke WE, Loesch DP, Shetty AC, Blackwell TW, Smith AV, Wong Q, Liu X, Conomos MP, Bobo DM, Aguet F, Albert C, Alonso A, Ardlie KG, Arking DE, Aslibekyan S, Auer PL, Barnard J, Barr RG, Barwick L, Becker LC, Beer RL, Benjamin EJ, Bielak LF, Blangero J, Boehnke M, Bowden DW, Brody JA, Burchard EG, Cade BE, Casella JF, Chalazan B, Chasman DI, Chen YI, Cho MH, Choi SH, Chung MK, Clish CB, Correa A, Curran JE, Custer B, Darbar D, Daya M, de Andrade M, DeMeo DL, Dutcher SK, Ellinor PT, Emery LS, Eng C, Fatkin D, Fingerlin T, Forer L, Fornage M, Franceschini N, Fuchsberger C, Fullerton SM, Germer S, Gladwin MT, Gottlieb DJ, Guo X, Hall ME, He J, Heard-Costa NL, Heckbert SR, Irvin MR, Johnsen JM, Johnson AD, Kaplan R, Kardia SLR, Kelly T, Kelly S, Kenny EE, Kiel DP, Klemmer R, Konkle BA, Kooperberg C, Köttgen A, Lange LA, Lasky-Su J, Levy D, Lin X, Lin KH, Liu C, Loos RJF, Garman L, Gerszten R, Lubitz SA, Lunetta KL, Mak ACY, Manichaikul A, Manning AK, Mathias RA, McManus DD, McGarvey ST, Meigs JB, Meyers DA, Mikulla JL, Minear MA, Mitchell BD, Mohanty S, Montasser ME, Montgomery C, Morrison AC, Murabito JM, Natale A, Natarajan P, Nelson SC, North KE, O'Connell JR, Palmer ND, Pankratz N, Peloso GM, Peyser PA, Pleiness J, Post WS, Psaty BM, Rao DC, Redline S, Reiner AP, Roden D, Rotter JI, Ruczinski I, Sarnowski C, Schoenherr S, Schwartz DA, Seo JS, Seshadri S, Sheehan VA, Sheu WH, Shoemaker MB, Smith NL, Smith JA, Sotoodehnia N, Stilp AM, Tang W, Taylor KD, Telen M, Thornton TA, Tracy RP, Van Den Berg DJ, Vasan RS, Viaud-Martinez KA, Vrieze S, Weeks DE, Weir BS, Weiss ST, Weng LC, Willer CJ, Zhang Y, Zhao X, Arnett DK, Ashley-Koch AE, Barnes KC, Boerwinkle E, Gabriel S, Gibbs R, Rice KM, Rich SS, Silverman EK, Qasba P, Gan W, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium., Papanicolaou GJ, Nickerson DA, Browning SR, Zody MC, Zöllner S, Wilson JG, Cupples LA, Laurie CC, Jaquish CE, Hernandez RD, O'Connor TD, Abecasis GR. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature 590:290-299, 2021 February, PMID: 33568819, PMCID: PMC7875770

Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Rüschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H. A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans. Hum Genet, 2021 January, PMID: 33496845, PMCID: PMC8099798

Bodas M, Moore AR, Subramaniyan B, Georgescu C, Wren JD, Freeman WM, Brown BR, Metcalf JP, Walters MS. Cigarette Smoke Activates NOTCH3 to Promote Goblet Cell Differentiation in Human Airway Epithelial Cells. Am J Respir Cell Mol Biol, 2021 January, PMID: 33444514, PMCID: PMC8008804

Oyelakin A, Horeth E, Song EC, Min S, Che M, Marzullo B, Lessard CJ, Rasmussen A, Radfar L, Scofield RH, Lewis DM, Stone DU, Grundahl K, De Rossi SS, Kurago Z, Farris AD, Sivils KL, Sinha S, Kramer JM, Romano RA. Transcriptomic and Network Analysis of Minor Salivary Glands of Patients With Primary Sjögren's Syndrome. Front Immunol 11:606268, 2021 January, PMID: 33488608, PMCID: PMC7821166

2020

Ansere VA, Ali-Mondal S, Sathiaseelan R, Garcia DN, Isola JVV, Henseb JD, Saccon TD, Ocañas SR, Tooley KB, Stout MB, Schneider A, Freeman WM. Cellular hallmarks of aging emerge in the ovary prior to primordial follicle depletion. Mech Ageing Dev 194:111425, 2020 December, PMID: 33383072, PMCID: PMC8279026

Qaisar R, Pharaoh G, Bhaskaran S, Xu H, Ranjit R, Bian J, Ahn B, Georgescu C, Wren JD, Van Remmen H. Restoration of Sarcoplasmic Reticulum Ca2 ATPase (SERCA) Activity Prevents Age-Related Muscle Atrophy and Weakness in Mice. Int J Mol Sci 22, 2020 December, PMID: 33375170, PMCID: PMC7792969

Nielsen JB, Rom O, Surakka I, Graham SE, Zhou W, Roychowdhury T, Fritsche LG, Gagliano Taliun SA, Sidore C, Liu Y, Gabrielsen ME, Skogholt AH, Wolford B, Overton W, Zhao Y, Chen J, Zhang H, Hornsby WE, Acheampong A, Grooms A, Schaefer A, Zajac GJM, Villacorta L, Zhang J, Brumpton B, Løset M, Rai V, Lundegaard PR, Olesen MS, Taylor KD, Palmer ND, Chen YD, Choi SH, Lubitz SA, Ellinor PT, Barnes KC, Daya M, Rafaels N, Weiss ST, Lasky-Su J, Tracy RP, Vasan RS, Cupples LA, Mathias RA, Yanek LR, Becker LC, Peyser PA, Bielak LF, Smith JA, Aslibekyan S, Hidalgo BA, Arnett DK, Irvin MR, Wilson JG, Musani SK, Correa A, Rich SS, Guo X, Rotter JI, Konkle BA, Johnsen JM, Ashley-Koch AE, Telen MJ, Sheehan VA, Blangero J, Curran JE, Peralta JM, Montgomery C, Sheu WH, Chung RH, Schwander K, Nouraie SM, Gordeuk VR, Zhang Y, Kooperberg C, Reiner AP, Jackson RD, Bleecker ER, Meyers DA, Li X, Das S, Yu K, LeFaive J, Smith A, Blackwell T, Taliun D, Zollner S, Forer L, Schoenherr S, Fuchsberger C, Pandit A, Zawistowski M, Kheterpal S, Brummett CM, Natarajan P, Schlessinger D, Lee S, Kang HM, Cucca F, Holmen OL, Åsvold BO, Boehnke M, Kathiresan S, Abecasis GR, Chen YE, Willer CJ, Hveem K. Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease. Nat Commun 11:6417, 2020 December, PMID: 33339817, PMCID: PMC7749177

Bajana S, Thomas K, Georgescu C, Zhao Y, Wren JD, Kovats S, Sun XH. Augmenting E Protein Activity Impairs cDC2 Differentiation at the Pre-cDC Stage. Front Immunol 11:577718, 2020 December, PMID: 33391258, PMCID: PMC7775562

Mann SN, Hadad N, Nelson Holte M, Rothman AR, Sathiaseelan R, Ali Mondal S, Agbaga MP, Unnikrishnan A, Subramaniam M, Hawse J, Huffman DM, Freeman WM, Stout MB. Health benefits attributed to 17α-estradiol, a lifespan-extending compound, are mediated through estrogen receptor α. Elife 9, 2020 December, PMID: 33289482, PMCID: PMC7744101

Garman L, Pelikan RC, Rasmussen A, Lareau CA, Savoy KA, Deshmukh US, Bagavant H, Levin AM, Daouk S, Drake WP, Montgomery CG. Single Cell Transcriptomics Implicate Novel Monocyte and T Cell Immune Dysregulation in Sarcoidosis. Front Immunol 11:567342, 2020 December, PMID: 33363531, PMCID: PMC7753017

Ortiz-Fernández L, Saruhan-Direskeneli G, Alibaz-Oner F, Kaymaz-Tahra S, Coit P, Kong X, Kiprianos AP, Maughan RT, Aydin SZ, Aksu K, Keser G, Kamali S, Inanc M, Springer J, Akar S, Onen F, Akkoc N, Khalidi NA, Koening C, Karadag O, Kiraz S, Forbess L, Langford CA, McAlear CA, Ozbalkan Z, Yavuz S, Çetin GY, Alpay-Kanitez N, Chung S, Ates A, Karaaslan Y, McKinnon-Maksimowicz K, Monach PA, Ozer HTE, Seyahi E, Fresko I, Cefle A, Seo P, Warrington KJ, Ozturk MA, Ytterberg SR, Cobankara V, Onat AM, Duzgun N, Bıcakcıgil M, Yentür SP, Lally L, Manfredi AA, Baldissera E, Erken E, Yazici A, Kısacık B, Kaşifoğlu T, Dalkilic E, Cuthbertson D, Pagnoux C, Sreih A, Reales G, Wallace C, Wren JD, Cunninghame-Graham DS, Vyse TJ, Sun Y, Chen H, Grayson PC, Tombetti E, Jiang L, Mason JC, Merkel PA, Direskeneli H, Sawalha AH. Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study. Am J Hum Genet, 2020 December, PMID: 33308445, PMCID: PMC7820633

Raj P, Song R, Zhu H, Riediger L, Jun DJ, Liang C, Arana C, Zhang B, Gao Y, Wakeland BE, Dozmorov I, Zhou J, Kelly JA, Lauwerys BR, Guthridge JM, Olsen NJ, Nath SK, Pasare C, van Oers N, Gilkeson G, Tsao BP, Gaffney PM, Gregersen PK, James JA, Zuo X, Karp DR, Li QZ, Wakeland EK. Deep sequencing reveals a DAP1 regulatory haplotype that potentiates autoimmunity in systemic lupus erythematosus. Genome Biol 21:281, 2020 November, PMID: 33213505, PMCID: PMC7677828

Chucair-Elliott AJ, Ocañas SR, Stanford DR, Ansere VA, Buettner KB, Porter H, Eliason NL, Reid JJ, Sharpe AL, Stout MB, Beckstead MJ, Miller BF, Richardson A, Freeman WM. Inducible cell-specific mouse models for paired epigenetic and transcriptomic studies of microglia and astroglia. Commun Biol 3:693, 2020 November, PMID: 33214681, PMCID: PMC7678837

Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron, 2020 November, PMID: 33220177

Gurley JM, Gmyrek GB, McClellan ME, Hargis EA, Hauck SM, Dozmorov MG, Wren JD, Carr DJJ, Elliott MH. Neuroretinal-Derived Caveolin-1 Promotes Endotoxin-Induced Inflammation in the Murine Retina. Invest Ophthalmol Vis Sci 61:19, 2020 October, PMID: 33079993, PMCID: PMC7585394

Wolfstetter G, Pfeifer K, Backman M, Masudi TA, Mendoza-García P, Chen S, Sonnenberg H, Sukumar SK, Uçkun E, Varshney GK, Uv A, Palmer RH. Identification of the Wallenda JNKKK as an Alk suppressor reveals increased competitiveness of Alk-expressing cells. Sci Rep 10:14954, 2020 September, PMID: 32917927, PMCID: PMC7486895

Rao G, Dwivedi SKD, Zhang Y, Dey A, Shameer K, Karthik R, Srikantan S, Hossen MN, Wren JD, Madesh M, Dudley JT, Bhattacharya R, Mukherjee P. MicroRNA-195 controls MICU1 expression and tumor growth in ovarian cancer. EMBO Rep:e48483, 2020 August, PMID: 32851774, PMCID: PMC7534609

Peng V, Georgescu C, Bakowska A, Pankow A, Qian L, Wren JD, Sun XH. E proteins orchestrate dynamic transcriptional cascades implicated in the suppression of the differentiation of group 2 innate lymphoid cells. J Biol Chem, 2020 August, PMID: 32817168, PMCID: PMC7606671

Pharaoh G, Brown JL, Sataranatarajan K, Kneis P, Bian J, Ranjit R, Hadad N, Georgescu C, Rabinovitch P, Ran Q, Wren JD, Freeman W, Kinter M, Richardson A, Van Remmen H. Targeting cPLA2 derived lipid hydroperoxides as a potential intervention for sarcopenia. Sci Rep 10:13968, 2020 August, PMID: 32811851, PMCID: PMC7435184

Ichino N, Serres MR, Urban RM, Urban MD, Treichel AJ, Schaefbauer KJ, Greif LE, Varshney GK, Skuster KJ, McNulty MS, Daby CL, Wang Y, Liao HK, El-Rass S, Ding Y, Liu W, Anderson JL, Wishman MD, Sabharwal A, Schimmenti LA, Sivasubbu S, Balciunas D, Hammerschmidt M, Farber SA, Wen XY, Xu X, McGrail M, Essner JJ, Burgess SM, Clark KJ, Ekker SC. Building the vertebrate codex using the gene breaking protein trap library. Elife 9, 2020 August, PMID: 32779569, PMCID: PMC7486118

Wolff CA, Lawrence MM, Porter H, Zhang Q, Reid JJ, Laurin JL, Musci RV, Linden MA, Peelor FF 3rd, Wren JD, Creery JS, Cutler KJ, Carson RH, Price JC, Hamilton KL, Miller BF. Sex differences in changes of protein synthesis with rapamycin treatment are minimized when metformin is added to rapamycin. Geroscience, 2020 August, PMID: 32761290, PMCID: PMC8110668

Howell RD, Dominguez-Lopez S, Ocañas SR, Freeman WM, Beckstead MJ. Female mice are resilient to age-related decline of substantia nigra dopamine neuron firing parameters. Neurobiol Aging 95:195-204, 2020 August, PMID: 32846275, PMCID: PMC7606778

Arabnejad M, Montgomery CG, Gaffney PM, McKinney BA. Nearest-Neighbor Projected Distance Regression for Epistasis Detection in GWAS With Population Structure Correction. Front Genet 11:784, 2020 July, PMID: 32774345, PMCID: PMC7387719

Garman L, Montgomery CG, Rivera NV. Recent advances in sarcoidosis genomics: epigenetics, gene expression, and gene by environment (G × E) interaction studies. Curr Opin Pulm Med, 2020 July, PMID: 32701681, PMCID: PMC7735660

Rodríguez-Morales R, Vélez-Negrón V, Torrado-Tapias A, Varshney G, Behra M. Expression patterns of activating transcription factor 5 (atf5a and atf5b) in zebrafish. Gene Expr Patterns:119126, 2020 July, PMID: 32663618

Ansere VA, Freeman WM. Exercising your mind. Science 369:144-145, 2020 July, PMID: 32646988

Joachims ML, Leehan KM, Dozmorov MG, Georgescu C, Pan Z, Lawrence C, Marlin MC, Macwana S, Rasmussen A, Radfar L, Lewis DM, Stone DU, Grundahl K, Scofield RH, Lessard CJ, Wren JD, Thompson LF, Guthridge JM, Sivils KL, Moore JS, Farris AD. Sjögren's Syndrome Minor Salivary Gland CD4 Memory T Cells Associate with Glandular Disease Features and have a Germinal Center T Follicular Helper Transcriptional Profile. J Clin Med 9, 2020 July, PMID: 32650575, PMCID: PMC7408878

Wren JD, Bai Y, Qin ZS, Yan D, Homayouni R. Proceedings of the 2019 MidSouth Computational Biology and Bioinformatics Society (MCBIOS) Conference. BMC Bioinformatics 21:254, 2020 July, PMID: 32631224, PMCID: PMC7336605

Banote RK, Chebli J, Şatır TM, Varshney GK, Camacho R, Ledin J, Burgess SM, Abramsson A, Zetterberg H. Amyloid precursor protein-b facilitates cell adhesion during early development in zebrafish. Sci Rep 10:10127, 2020 June, PMID: 32576936, PMCID: PMC7311384

Agasing AM, Wu Q, Khatri B, Borisow N, Ruprecht K, Brandt AU, Gawde S, Kumar G, Quinn JL, Ko RM, Mao-Draayer Y, Lessard CJ, Paul F, Axtell RC. Transcriptomics and proteomics reveal a cooperation between interferon and T-helper 17 cells in neuromyelitis optica. Nat Commun 11:2856, 2020 June, PMID: 32503977, PMCID: PMC7275086

Sui Y, Li X, Oh S, Zhang B, Freeman WM, Shin S, Janknecht R. Opposite Roles of the JMJD1A Interaction Partners MDFI and MDFIC in Colorectal Cancer. Sci Rep 10:8710, 2020 May, PMID: 32457453, PMCID: PMC7250871

Sataranatarajan K, Pharaoh G, Brown JL, Ranjit R, Piekarz KM, Street K, Wren JD, Georgescu C, Kinter C, Kinter M, Freeman WM, Richardson A, Van Remmen H. Molecular changes in transcription and metabolic pathways underlying muscle atrophy in the CuZnSOD null mouse model of sarcopenia. Geroscience, 2020 May, PMID: 32394347, PMCID: PMC7394980

Ray-Jones H, Duffus K, McGovern A, Martin P, Shi C, Hankinson J, Gough O, Yarwood A, Morris AP, Adamson A, Taylor C, Ding J, Gaddi VP, Fu Y, Gaffney P, Orozco G, Warren RB, Eyre S. Mapping DNA interaction landscapes in psoriasis susceptibility loci highlights KLF4 as a target gene in 9q31. BMC Biol 18:47, 2020 May, PMID: 32366252, PMCID: PMC7199343

Verstappen GM, Ice JA, Bootsma H, Pringle S, Haacke EA, de Lange K, van der Vries GB, Hickey P, Vissink A, Spijkervet FKL, Lessard CJ, Kroese FGM. Gene expression profiling of epithelium-associated FcRL4 B cells in primary Sjögren's syndrome reveals a pathogenic signature. J Autoimmun 109:102439, 2020 May, PMID: 32201227

Sapkota H, Wren JD, Gorbsky GJ. Chondrosarcoma-associated gene 1 (CSAG1) maintains the integrity of the mitotic centrosome in cells with defective p53. J Cell Sci, 2020 April, PMID: 32295846, PMCID: PMC7272337

Medley SC, Rathnakar BH, Georgescu C, Wren JD, Olson LE. Fibroblast-specific Stat1 deletion enhances the myofibroblast phenotype during tissue repair. Wound Repair Regen, 2020 March, PMID: 32175700, PMCID: PMC7321860

Kiss T, Tarantini S, Csipo T, Balasubramanian P, Nyúl-Tóth Á, Yabluchanskiy A, Wren JD, Garman L, Huffman DM, Csiszar A, Ungvari Z. Circulating anti-geronic factors from heterochonic parabionts promote vascular rejuvenation in aged mice: transcriptional footprint of mitochondrial protection, attenuation of oxidative stress, and rescue of endothelial function by young blood. Geroscience, 2020 March, PMID: 32172434, PMCID: PMC7205954

Garman L, Pezant N, Pastori A, Savoy KA, Li C, Levin AM, Iannuzzi MC, Rybicki BA, Adrianto I, Montgomery CG. Genome-Wide Association Study of Ocular Sarcoidosis Confirms HLA Associations and Implicates Barrier Function and Autoimmunity in African Americans. Ocul Immunol Inflamm:1-6, 2020 March, PMID: 32141793, PMCID: PMC7483204

Petree C, Varshney GK. MultiFRAGing: Rapid and Simultaneous Genotyping of Multiple Alleles in a Single Reaction. Sci Rep 10:3172, 2020 February, PMID: 32081936, PMCID: PMC7035419

Kiss T, Nyúl-Tóth Á, Balasubramanian P, Tarantini S, Ahire C, Yabluchanskiy A, Csipo T, Farkas E, Wren JD, Garman L, Csiszar A, Ungvari Z. Nicotinamide mononucleotide (NMN) supplementation promotes neurovascular rejuvenation in aged mice: transcriptional footprint of SIRT1 activation, mitochondrial protection, anti-inflammatory, and anti-apoptotic effects. Geroscience, 2020 February, PMID: 32056076, PMCID: PMC7206476

Vona B, Doll J, Hofrichter MAH, Haaf T, Varshney GK. Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss. Hear Res:107906, 2020 February, PMID: 32063424, PMCID: PMC7415493