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Items: 1 to 20 of 98

1.

Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma.

Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM.

N Engl J Med. 2018 Apr 12;378(15):1396-1407. doi: 10.1056/NEJMoa1801445.

PMID:
29641966
2.

Genomic correlates of response to immune checkpoint therapies in clear cell renal cell carcinoma.

Miao D, Margolis CA, Gao W, Voss MH, Li W, Martini DJ, Norton C, Bossé D, Wankowicz SM, Cullen D, Horak C, Wind-Rotolo M, Tracy A, Giannakis M, Hodi FS, Drake CG, Ball MW, Allaf ME, Snyder A, Hellmann MD, Ho T, Motzer RJ, Signoretti S, Kaelin WG Jr, Choueiri TK, Van Allen EM.

Science. 2018 Feb 16;359(6377):801-806. doi: 10.1126/science.aan5951. Epub 2018 Jan 4.

3.

Exome-Wide Association Study of Pancreatic Cancer Risk.

Grant RC, Denroche RE, Borgida A, Virtanen C, Cook N, Smith AL, Connor AA, Wilson JM, Peterson G, Roberts NJ, Klein AP, Grimmond SM, Biankin A, Cleary S, Moore M, Lemire M, Zogopoulos G, Stein L, Gallinger S.

Gastroenterology. 2018 Feb;154(3):719-722.e3. doi: 10.1053/j.gastro.2017.10.015. Epub 2017 Oct 24.

PMID:
29074453
4.

Genomic Triangulation and Coverage Analysis in Whole-Exome Sequencing-Based Molecular Autopsies.

Shanks GW, Tester DJ, Nishtala S, Evans JM, Ackerman MJ.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001828. doi: 10.1161/CIRCGENETICS.117.001828.

PMID:
28986455
5.

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002162. doi: 10.1101/mcs.a002162. Print 2017 Nov. Review.

6.

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.

Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, Clarke JC, Peterson KA, Denegre J, Schneider M, Sussman CR, Sunde L, Lildballe DL, Hertz JM, Cornell RA, Murray SA, Manak JR.

Genetics. 2017 Sep;207(1):215-228. doi: 10.1534/genetics.117.1125. Epub 2017 Jul 24.

7.

Clinical study of genomic drivers in pancreatic ductal adenocarcinoma.

Barrett MT, Deiotte R, Lenkiewicz E, Malasi S, Holley T, Evers L, Posner RG, Jones T, Han H, Sausen M, Velculescu VE, Drebin J, O'Dwyer P, Jameson G, Ramanathan RK, Von Hoff DD.

Br J Cancer. 2017 Aug 8;117(4):572-582. doi: 10.1038/bjc.2017.209. Epub 2017 Jul 18.

8.

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, Leber M, Chen Y, Albert MS, Riedel-Heller S, Emilsson V, Beekly D, Braae A, Schmidt R, Blacker D, Masullo C, Schmidt H, Doody RS, Spalletta G, Longstreth WT Jr, Fairchild TJ, Bossù P, Lopez OL, Frosch MP, Sacchinelli E, Ghetti B, Yang Q, Huebinger RM, Jessen F, Li S, Kamboh MI, Morris J, Sotolongo-Grau O, Katz MJ, Corcoran C, Dunstan M, Braddel A, Thomas C, Meggy A, Marshall R, Gerrish A, Chapman J, Aguilar M, Taylor S, Hill M, Fairén MD, Hodges A, Vellas B, Soininen H, Kloszewska I, Daniilidou M, Uphill J, Patel Y, Hughes JT, Lord J, Turton J, Hartmann AM, Cecchetti R, Fenoglio C, Serpente M, Arcaro M, Caltagirone C, Orfei MD, Ciaramella A, Pichler S, Mayhaus M, Gu W, Lleó A, Fortea J, Blesa R, Barber IS, Brookes K, Cupidi C, Maletta RG, Carrell D, Sorbi S, Moebus S, Urbano M, Pilotto A, Kornhuber J, Bosco P, Todd S, Craig D, Johnston J, Gill M, Lawlor B, Lynch A, Fox NC, Hardy J; ARUK Consortium, Albin RL, Apostolova LG, Arnold SE, Asthana S, Atwood CS, Baldwin CT, Barnes LL, Barral S, Beach TG, Becker JT, Bigio EH, Bird TD, Boeve BF, Bowen JD, Boxer A, Burke JR, Burns JM, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carlsson CM, Carney RM, Carrasquillo MM, Carroll SL, Diaz CC, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, Dick M, Duara R, Evans DA, Faber KM, Fallon KB, Fardo DW, Farlow MR, Ferris S, Foroud TM, Galasko DR, Gearing M, Geschwind DH, Gilbert JR, Graff-Radford NR, Green RC, Growdon JH, Hamilton RL, Harrell LE, Honig LS, Huentelman MJ, Hulette CM, Hyman BT, Jarvik GP, Abner E, Jin LW, Jun G, Karydas A, Kaye JA, Kim R, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lunetta KL, Lyketsos CG, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Morris JC, Murrell JR, Myers AJ, O'Bryant S, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Perry W, Peskind E, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rogaeva E, Rosen HJ, Rosenberg RN, Sager MA, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Garzia F, Golamaully F, Septier G, Engelborghs S, Vandenberghe R, De Deyn PP, Fernadez CM, Benito YA, Thonberg H, Forsell C, Lilius L, Kinhult-Stählbom A, Kilander L, Brundin R, Concari L, Helisalmi S, Koivisto AM, Haapasalo A, Dermecourt V, Fievet N, Hanon O, Dufouil C, Brice A, Ritchie K, Dubois B, Himali JJ, Keene CD, Tschanz J, Fitzpatrick AL, Kukull WA, Norton M, Aspelund T, Larson EB, Munger R, Rotter JI, Lipton RB, Bullido MJ, Hofman A, Montine TJ, Coto E, Boerwinkle E, Petersen RC, Alvarez V, Rivadeneira F, Reiman EM, Gallo M, O'Donnell CJ, Reisch JS, Bruni AC, Royall DR, Dichgans M, Sano M, Galimberti D, St George-Hyslop P, Scarpini E, Tsuang DW, Mancuso M, Bonuccelli U, Winslow AR, Daniele A, Wu CK; GERAD/PERADES, CHARGE, ADGC, EADI, Peters O, Nacmias B, Riemenschneider M, Heun R, Brayne C, Rubinsztein DC, Bras J, Guerreiro R, Al-Chalabi A, Shaw CE, Collinge J, Mann D, Tsolaki M, Clarimón J, Sussams R, Lovestone S, O'Donovan MC, Owen MJ, Behrens TW, Mead S, Goate AM, Uitterlinden AG, Holmes C, Cruchaga C, Ingelsson M, Bennett DA, Powell J, Golde TE, Graff C, De Jager PL, Morgan K, Ertekin-Taner N, Combarros O, Psaty BM, Passmore P, Younkin SG, Berr C, Gudnason V, Rujescu D, Dickson DW, Dartigues JF, DeStefano AL, Ortega-Cubero S, Hakonarson H, Campion D, Boada M, Kauwe JK, Farrer LA, Van Broeckhoven C, Ikram MA, Jones L, Haines JL, Tzourio C, Launer LJ, Escott-Price V, Mayeux R, Deleuze JF, Amin N, Holmans PA, Pericak-Vance MA, Amouyel P, van Duijn CM, Ramirez A, Wang LS, Lambert JC, Seshadri S, Williams J, Schellenberg GD.

Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17.

9.

Whole exome sequence-based association analyses of plasma amyloid-β in African and European Americans; the Atherosclerosis Risk in Communities-Neurocognitive Study.

Simino J, Wang Z, Bressler J, Chouraki V, Yang Q, Younkin SG, Seshadri S, Fornage M, Boerwinkle E, Mosley TH Jr.

PLoS One. 2017 Jul 13;12(7):e0180046. doi: 10.1371/journal.pone.0180046. eCollection 2017.

10.

Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.

Wang N, Zhang Y, Gedvilaite E, Loh JW, Lin T, Liu X, Liu CG, Kumar D, Donnelly R, Raymond K, Schuchman EH, Sleat DE, Lobel P, Xing J.

Hum Mutat. 2017 Nov;38(11):1491-1499. doi: 10.1002/humu.23291. Epub 2017 Jul 25.

PMID:
28703315
11.

Landscape and variation of novel retroduplications in 26 human populations.

Zhang Y, Li S, Abyzov A, Gerstein MB.

PLoS Comput Biol. 2017 Jun 29;13(6):e1005567. doi: 10.1371/journal.pcbi.1005567. eCollection 2017 Jun.

12.

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, Chen Y, Lu JT, Gibbs RA, Eng C, Yang Y, Rousseau J, de Vries BBA, Campeau PM, Lee B.

Hum Mutat. 2017 Oct;38(10):1365-1371. doi: 10.1002/humu.23282. Epub 2017 Jul 10.

PMID:
28649782
13.

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.

Blackburn PR, Barnett SS, Zimmermann MT, Cousin MA, Kaiwar C, Pinto E Vairo F, Niu Z, Ferber MJ, Urrutia RA, Selcen D, Klee EW, Pichurin PN.

Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001743. doi: 10.1101/mcs.a001743.

14.

Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy.

Long PA, Theis JL, Shih YH, Maleszewski JJ, Abell Aleff PC, Evans JM, Xu X, Olson TM.

Hum Mol Genet. 2017 Aug 1;26(15):2874-2881. doi: 10.1093/hmg/ddx169.

PMID:
28472305
15.

Dysregulation of INF2-mediated mitochondrial fission in SPOP-mutated prostate cancer.

Jin X, Wang J, Gao K, Zhang P, Yao L, Tang Y, Tang L, Ma J, Xiao J, Zhang E, Zhu J, Zhang B, Zhao SM, Li Y, Ren S, Huang H, Yu L, Wang C.

PLoS Genet. 2017 Apr 27;13(4):e1006748. doi: 10.1371/journal.pgen.1006748. eCollection 2017 Apr.

16.

Whole-exome analysis reveals novel somatic genomic alterations associated with cell of origin in diffuse large B-cell lymphoma.

Manso BA, Wenzl K, Asmann YW, Maurer MJ, Manske M, Yang ZZ, Slager SL, Nowakowski GS, Ansell SM, Witzig TE, Feldman AL, Rimsza L, Link B, Cerhan JR, Novak AJ.

Blood Cancer J. 2017 Apr 21;7(4):e553. doi: 10.1038/bcj.2017.33. No abstract available.

17.

Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.

Goetz MP, Kalari KR, Suman VJ, Moyer AM, Yu J, Visscher DW, Dockter TJ, Vedell PT, Sinnwell JP, Tang X, Thompson KJ, McLaughlin SA, Moreno-Aspitia A, Copland JA, Northfelt DW, Gray RJ, Hunt K, Conners A, Sicotte H, Eckel-Passow JE, Kocher JP, Ingle JN, Ellingson MS, McDonough M, Wieben ED, Weinshilboum R, Wang L, Boughey JC.

J Natl Cancer Inst. 2017 Jul 1;109(7). doi: 10.1093/jnci/djw306.

18.

Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy.

Turkowski KL, Tester DJ, Bos JM, Haugaa KH, Ackerman MJ.

Congenit Heart Dis. 2017 Mar;12(2):226-235. doi: 10.1111/chd.12462. Epub 2017 Mar 21.

PMID:
28326674
19.

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

Boczek NJ, Kruisselbrink T, Cousin MA, Blackburn PR, Klee EW, Gavrilova RH, Lanpher BC.

Am J Med Genet A. 2017 May;173(5):1328-1333. doi: 10.1002/ajmg.a.38113. Epub 2017 Mar 21.

PMID:
28322501
20.

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.

Gass J, Blackburn P, Jackson J, Harris K, Selcen D, Dimberg E, Atwal P.

J Clin Neuromuscul Dis. 2017 Mar;18(3):152-156. doi: 10.1097/CND.0000000000000164.

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