Publications

Export 2190 results:
2015
Bainbridge MN, Armstrong GN, M Gramatges M, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML. Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 ;107(1):384.
2016
Iacovazzo D, Caswell R, Bunce B, Jose S, Yuan B, Hernández-Ramírez LC, Kapur S, Caimari F, Evanson J, Ferraù F, Dang MN, Gabrovska P, Larkin SJ, Ansorge O, Rodd C, Vance ML, Ramírez-Renteria C, Mercado M, Goldstone AP, Buchfelder M, Burren CP, Gurlek A, Dutta P, Choong CS, Cheetham T, Trivellin G, Stratakis CA, Lopes M-B, Grossman AB, Trouillas J, Lupski JR, Ellard S, Sampson JR, Roncaroli F, Korbonits M. Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun. 2016 ;4(1):56.
2015
Lodish MB, Yuan B, Levy I, Braunstein GD, Lyssikatos C, Salpea P, Szarek E, Karageorgiadis AS, Belyavskaya E, Raygada M, Faucz FRueda, Izzat L, Brain C, Gardner J, Quezado M, J Carney A, Lupski JR, Stratakis CA. Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations. Eur J Endocrinol. 2015 ;172(6):803-11.
2014
Andersson U, Wibom C, Cederquist K, Aradottir S, Borg A, Armstrong GN, Shete S, Lau CC, Bainbridge MN, Claus EB, Barnholtz-Sloan J, Lai R, Il'yasova D, Houlston RS, Schildkraut J, Bernstein JL, Olson SH, Jenkins RB, Lachance DH, Wrensch M, Davis FG, Merrell R, Johansen C, Sadetzki S, Bondy ML, Melin BS. Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer. Neuro Oncol. 2014 ;16(10):1333-40.
2024
Chen F, Zhang Y, Sedlazeck FJ, Creighton CJ. Germline structural variation globally impacts the cancer transcriptome including disease-relevant genes. Cell Rep Med. 2024 ;5(3):101446.
2014
Carbone L, Harris RA, Gnerre S, Veeramah KR, Lorente-Galdos B, Huddleston J, Meyer TJ, Herrero J, Roos C, Aken B, Anaclerio F, Archidiacono N, Baker C, Barrell D, Batzer MA, Beal K, Blancher A, Bohrson CL, Brameier M, Campbell MS, Capozzi O, Casola C, Chiatante G, Cree A, Damert A, De Jong PJ, Dumas L, Fernandez-Callejo M, Flicek P, Fuchs NV, Gut I, Gut M, Hahn MW, Hernandez-Rodriguez J, Hillier LDW, Hubley R, Ianc B, Izsvák Z, Jablonski NG, Johnstone LM, Karimpour-Fard A, Konkel MK, Kostka D, Lazar NH, Lee SL, Lewis LR, Liu Y, Locke DP, Mallick S, Mendez FL, Muffato M, Nazareth LV, Nevonen KA, O'Bleness M, Ochis C, Odom DT, Pollard KS, Quilez J, Reich D, Rocchi M, Schumann GG, Searle S, Sikela JM, Skollar G, Smit A, Sonmez K, Hallers Bten, Terhune E, Thomas GWC, Ullmer B, Ventura M, Walker JA, Wall JD, Walter L, Ward MC, Wheelan SJ, Whelan CW, White S, Wilhelm LJ, Woerner AE, Yandell M, Zhu B, Hammer MF, Marques-Bonet T, Eichler EE, Fulton L, Fronick C, Muzny DM, Warren WC, Worley KC, Rogers J, Wilson RK, Gibbs RA. Gibbon genome and the fast karyotype evolution of small apes. Nature. 2014 ;513(7517):195-201.
Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MHelene, Szarek E, Leal LF, Caberg J-H, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MChiara, Lodish M, Horvath A, de Alexandre RBertollo, Manning AD, Levy I, Keil MF, Sierra Mde la Luz, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, T Wu J, Choong CS, Bertherat J, Chanson P, Kamenický P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med. 2014 ;371(25):2363-74.
Ahola V, Lehtonen R, Somervuo P, Salmela L, Koskinen P, Rastas P, Välimäki N, Paulin L, Kvist J, Wahlberg N, Tanskanen J, Hornett EA, Ferguson LC, Luo S, Cao Z, de Jong MA, Duplouy A, Smolander O-P, Vogel H, McCoy RC, Qian K, Chong WSwee, Zhang Q, Ahmad F, Haukka JK, Joshi A, Salojärvi J, Wheat CW, Grosse-Wilde E, Hughes D, Katainen R, Pitkänen E, Ylinen J, Waterhouse RM, Turunen M, Vähärautio A, Ojanen SP, Schulman AH, Taipale M, Lawson D, Ukkonen E, Mäkinen V, Goldsmith MR, Holm L, Auvinen P, Frilander MJ, Hanski I. The Glanville fritillary genome retains an ancient karyotype and reveals selective chromosomal fusions in Lepidoptera. Nat Commun. 2014 ;5:4737.
2002
Dederich DA, Okwuonu G, Garner T, Denn A, Sutton A, Escotto M, Martindale A, Delgado O, Muzny DM, Gibbs RA, Metzker ML. Glass bead purification of plasmid template DNA for high throughput sequencing of mammalian genomes. Nucleic Acids Res. 2002 ;30(7):e32.
2023
Kuderna LFK, Gao H, Janiak MC, Kuhlwilm M, Orkin JD, Bataillon T, Manu S, Valenzuela A, Bergman J, Rousselle M, Silva FEnnes, Agueda L, Blanc J, Gut M, de Vries D, Goodhead I, Harris RA, Raveendran M, Jensen A, Chuma IS, Horvath JE, Hvilsom C, Juan D, Frandsen P, Schraiber JG, de Melo FR, Bertuol F, Byrne H, Sampaio I, Farias I, Valsecchi J, Messias M, da Silva MNF, Trivedi M, Rossi R, Hrbek T, Andriaholinirina N, Rabarivola CJ, Zaramody A, Jolly CJ, Phillips-Conroy J, Wilkerson G, Abee C, Simmons JH, Fernandez-Duque E, Kanthaswamy S, Shiferaw F, Wu D, Zhou L, Shao Y, Zhang G, Keyyu JD, Knauf S, Le MD, Lizano E, Merker S, Navarro A, Nadler T, Khor CChuen, Lee J, Tan P, Lim WKhong, Kitchener AC, Zinner D, Gut I, Melin AD, Guschanski K, Schierup MHeide, Beck RMD, Umapathy G, Roos C, Boubli JP, Rogers J, Farh KKai-How, Bonet TMarques. A global catalog of whole-genome diversity from 233 primate species. Science. 2023 ;380(6648):906-913.
2011
Bressler J, Shimmin LC, Boerwinkle E, Hixson JE. Global DNA methylation and risk of subclinical atherosclerosis in young adults: the Pathobiological Determinants of Atherosclerosis in Youth (PDAY) study. Atherosclerosis. 2011 ;219(2):958-62.
2023
Chen Q, Sasikala-Appukuttan AKirshna, Husain Z, Shrivastava A, Spain M, Sendler ED, Daines B, Fischer S, Chen R, Cook TA, Friedrich M. Global Gene Expression Analysis Reveals Complex Cuticle Organization of the Tribolium Compound Eye. Genome Biol Evol. 2023 ;15(1).
Chen F, Zhang Y, Chandrashekar DS, Varambally S, Creighton CJ. Global impact of somatic structural variation on the cancer proteome. Nat Commun. 2023 ;14(1):5637.
2019
Zhang Y, Yang L, Kucherlapati M, Hadjipanayis A, Pantazi A, Bristow CA, Lee EAlice, Mahadeshwar HS, Tang J, Zhang J, Seth S, Lee S, Ren X, Song X, Sun H, Seidman J, Luquette LJ, Xi R, Chin L, Protopopov A, Park PJ, Kucherlapati R, Creighton CJ. Global impact of somatic structural variation on the DNA methylome of human cancers. Genome Biol. 2019 ;20(1):209.
2022
Chen F, Chandrashekar DS, Scheurer ME, Varambally S, Creighton CJ. Global molecular alterations involving recurrence or progression of pediatric brain tumors. Neoplasia. 2022 ;24(1):22-33.
2015
Yuan B, Pehlivan D, Karaca E, Patel N, Charng W-L, Gambin T, Gonzaga-Jauregui C, V Sutton R, Yesil G, Bozdogan STug, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OOzalp, Rubeaan KAl, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, B Geckinli B, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 ;125(2):636-51.
2009
Chung CC, Shimmin L, Natarajan S, Hanis CL, Boerwinkle E, Hixson JE. Glucocorticoid receptor gene variant in the 3' untranslated region is associated with multiple measures of blood pressure. J Clin Endocrinol Metab. 2009 ;94(1):268-76.
1981
Bélanger L, Frain M, Baril P, Gingras M-C, Bartkowiak J, Sala-Trepat JM. Glucocorticosteroid suppression of alpha1-fetoprotein synthesis in developing rat liver. Evidence for selective gene repression at the transcriptional level. Biochemistry. 1981 ;20(23):6665-72.
2022
Ahmed KMokim, Veeramachaneni R, Deng D, Putluri N, Putluri V, Cardenas MF, Wheeler DA, Decker WK, Frederick AI, Kazi S, Sikora AG, Sandulache VC, Frederick MJ. Glutathione peroxidase 2 is a metabolic driver of the tumor immune microenvironment and immune checkpoint inhibitor response. J Immunother Cancer. 2022 ;10(8).
2017
Worley KC. A golden goat genome. Nat Genet. 2017 ;49(4):485-486.
2009
Meyer TE, Shiffman D, Morrison AC, Rowland CM, Louie JZ, Bare LA, Ross DA, Arellano AR, Chasman DI, Ridker PM, Pankow JS, Coresh J, Malloy MJ, Kane JP, Ellis SG, Devlin JJ, Boerwinkle E. GOSR2 Lys67Arg is associated with hypertension in whites. Am J Hypertens. 2009 ;22(2):163-8.
2003
Blackshear PJ, Graves JP, Stumpo DJ, Cobos I, Rubenstein JLR, Zeldin DC. Graded phenotypic response to partial and complete deficiency of a brain-specific transcript variant of the winged helix transcription factor RFX4. Development. 2003 ;130(19):4539-52.
2018
Wang J, Zhao L, Wang X, Chen Y, Xu M, Soens ZT, Ge Z, Wang PRonghan, Wang F, Chen R. GRIPT: a novel case-control analysis method for Mendelian disease gene discovery. Genome Biol. 2018 ;19(1):203.
1997
Chew LJ, Fleck MW, Wright P, Scherer SE, Mayer ML, Gallo V. Growth factor-induced transcription of GluR1 increases functional AMPA receptor density in glial progenitor cells. J Neurosci. 1997 ;17(1):227-40.
2024
Wang Z, Peters BA, Yu B, Grove ML, Wang T, Xue X, Thyagarajan B, Daviglus ML, Boerwinkle E, Hu G, Mossavar-Rahmani Y, Isasi CR, Knight R, Burk RD, Kaplan RC, Qi Q. Gut Microbiota and Blood Metabolites Related to Fiber Intake and Type 2 Diabetes. Circ Res. 2024 ;134(7):842-854.