Publications

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2014
Parikh N, Hilsenbeck S, Creighton CJ, Dayaram T, Shuck R, Shinbrot E, Xi L, Gibbs RA, Wheeler DA, Donehower LA. Effects of TP53 mutational status on gene expression patterns across 10 human cancer types. J Pathol. 2014 ;232(5):522-33.
Yang MQu, Yoshigoe K, Yang W, Tong W, Qin X, Dunker A, Chen Z, Arbania HR, Liu JS, Niemierko A, Yang JY. The emerging genomics and systems biology research lead to systems genomics studies. BMC Genomics. 2014 ;15 Suppl 11(Suppl 11):I1.
Sun D, Luo M, Jeong M, Rodriguez B, Xia Z, Hannah R, Wang H, Le T, Faull KF, Chen R, Gu H, Bock C, Meissner A, Göttgens B, Darlington GJ, Li W, Goodell MA. Epigenomic profiling of young and aged HSCs reveals concerted changes during aging that reinforce self-renewal. Cell Stem Cell. 2014 ;14(5):673-88.
Zhang F, Boerwinkle E, Xiong M. Epistasis analysis for quantitative traits by functional regression model. Genome Res. 2014 ;24(6):989-98.
Fuller ZL, Haynes GD, Zhu D, Batterton M, Chao H, Dugan S, Javaid M, Jayaseelan JC, Lee S, Li M, Ongeri F, Qi S, Han Y, Doddapaneni H, Richards S, Schaeffer SW. Evidence for stabilizing selection on codon usage in chromosomal rearrangements of Drosophila pseudoobscura. G3 (Bethesda). 2014 ;4(12):2433-49.
R Harris A, Tardif SD, Vinar T, Wildman DE, Rutherford JN, Rogers J, Worley KC, Aagaard KM. Evolutionary genetics and implications of small size and twinning in callitrichine primates. Proc Natl Acad Sci U S A. 2014 ;111(4):1467-72.
Rajagopal A, Braslavsky D, Lu JT, Kleppe S, Clément F, Cassinelli H, Liu DS, Liern JMiguel, Vallejo G, Bergadá I, Gibbs RA, Campeau PM, Lee BH. Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. J Clin Endocrinol Metab. 2014 ;99(11):E2451-6.
Okamoto Y, Goksungur MTuba, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CMB, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, Lupski JR. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 ;16(5):386-394.
Shinbrot E, Henninger EE, Weinhold N, Covington KR, A Göksenin Y, Schultz N, Chao H, Doddapaneni H, Muzny DM, Gibbs RA, Sander C, Pursell ZF, Wheeler DA. Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. Genome Res. 2014 ;24(11):1740-50.
Sezer O, Gebesoglu I, Yuan B, Karaca E, Gokce E, Gunes S. Fibular aplasia, tibial campomelia, and oligosyndactyly: a further patient with a 2-year follow-up. Clin Dysmorphol. 2014 ;23(4):121-6.
Chipman AD, Ferrier DEK, Brena C, Qu J, Hughes DST, Schröder R, Torres-Oliva M, Znassi N, Jiang H, Almeida FC, Alonso CR, Apostolou Z, Aqrawi P, Arthur W, Barna JCJ, Blankenburg KP, Brites D, Capella-Gutiérrez S, Coyle M, Dearden PK, Pasquier LDu, Duncan EJ, Ebert D, Eibner C, Erikson G, Evans PD, Extavour CG, Francisco L, Gabaldón T, Gillis WJ, Goodwin-Horn EA, Green JE, Griffiths-Jones S, Grimmelikhuijzen CJP, Gubbala S, Guigó R, Han Y, Hauser F, Havlak P, Hayden L, Helbing S, Holder M, Hui JHL, Hunn JP, Hunnekuhl VS, Jackson L, Javaid M, Jhangiani SN, Jiggins FM, Jones TE, Kaiser TS, Kalra D, Kenny NJ, Korchina V, Kovar CL, F Kraus B, Lapraz F, Lee SL, Lv J, Mandapat C, Manning G, Mariotti M, Mata R, Mathew T, Neumann T, Newsham I, Ngo DN, Ninova M, Okwuonu G, Ongeri F, Palmer WJ, Patil S, Patraquim P, Pham C, Pu L-L, Putman NH, Rabouille C, Ramos OMendivil, Rhodes AC, Robertson HE, Robertson HM, Ronshaugen M, Rozas J, Saada N, Sánchez-Gracia A, Scherer SE, Schurko AM, Siggens KW, Simmons DN, Stief A, Stolle E, Telford MJ, Tessmar-Raible K, Thornton R, Van der Zee M, von Haeseler A, Williams JM, Willis JH, Wu Y, Zou X, Lawson D, Muzny DM, Worley KC, Gibbs RA, Akam M, Richards S. The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima. PLoS Biol. 2014 ;12(11):e1002005.
Boerwinkle E, Heckbert SR. Following-up genome-wide association study signals: lessons learned from Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 ;7(3):332-4.
Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, Palotie A, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Neale BM, Daly MJ. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 ;46(9):944-50.
Yu Z, Kim J, He L, Creighton CJ, Gunaratne PH, Hawkins SM, Matzuk MM. Functional analysis of miR-34c as a putative tumor suppressor in high-grade serous ovarian cancer. Biol Reprod. 2014 ;91(5):113.
Ackermann RR, Schroeder L, Rogers J, Cheverud JM. Further evidence for phenotypic signatures of hybridization in descendant baboon populations. J Hum Evol. 2014 ;76:54-62.
Li Q, Liu X, Gibbs RA, Boerwinkle E, Polychronakos C, Qu H-Q. Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. PLoS One. 2014 ;9(8):e104452.
Zernant J, Collison FT, Lee W, Fishman GA, Nõupuu K, Yuan B, Cai C, Lupski JR, Yannuzzi LA, Tsang SH, Allikmets R. Genetic and clinical analysis of ABCA4-associated disease in African American patients. Hum Mutat. 2014 ;35(10):1187-94.
Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TMaria, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LDV, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SWai, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 ;13(1):44-58.
Yu B, Zheng Y, Alexander D, Morrison AC, Coresh J, Boerwinkle E. Genetic determinants influencing human serum metabolome among African Americans. PLoS Genet. 2014 ;10(3):e1004212.
M Munir S, Weng L-C, Tang W, Basu S, Pankow JS, Matijevic N, Cushman M, Boerwinkle E, Folsom AR. Genetic markers associated with plasma protein C level in African Americans: the atherosclerosis risk in communities (ARIC) study. Genet Epidemiol. 2014 ;38(8):709-13.
Escott-Price V, Bellenguez C, San Wang L-, Choi S-H, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert J-C, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, M Ikram A, Zelenika D, Vardarajan BN, Kamatani Y, Lin C-F, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M, Johnson AD, Ruiz A, Bihoreau M-T, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, M Kamboh I, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FSanchez, Fox NC, Hardy J, Naranjo MCandida De, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonuccelli U, Mancuso M, Siciliano G, Moebus S, Mecocci P, Del Zompo M, Maier W, Hampel H, Pilotto A, Frank-García A, Panza F, Solfrizzi V, Caffarra P, Nacmias B, Perry W, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RFAG, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JSK, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Dartigues J-F, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Haines JL, Lathrop M, Pericak-Vance MA, Launer LJ, Van Broeckhoven C, Farrer LA, van Duijn CM, Ramirez A, Seshadri S, Schellenberg GD, Amouyel P, Williams J. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS One. 2014 ;9(6):e94661.
Haus T, Ferguson B, Rogers J, Doxiadis G, Certa U, Rose NJ, Teepe R, Weinbauer GF, Roos C. Genome typing of nonhuman primate models: implications for biomedical research. Trends Genet. 2014 ;30(11):482-7.
Del-Aguila JL, Beitelshees AL, Cooper-Dehoff RM, Chapman AB, Gums JG, Bailey K, Gong Y, Turner ST, Johnson JA, Boerwinkle E. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. Pharmacogenomics J. 2014 ;14(1):35-40.
Jusiak B, Wang F, Karandikar UC, Kwak S-J, Wang H, Chen R, Mardon G. Genome-wide DNA binding pattern of the homeodomain transcription factor Sine oculis (So) in the developing eye of . Genom Data. 2014 ;2:153-155.
Fan AXiucheng, Papadopoulos GL, Hossain MA, Lin I-J, Hu J, Tang TMing, Kilberg MS, Renne R, Strouboulis J, Bungert J. Genomic and proteomic analysis of transcription factor TFII-I reveals insight into the response to cellular stress. Nucleic Acids Res. 2014 ;42(12):7625-41.