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Items: 1 to 20 of 86

1.

Molecular response of chorioretinal endothelial cells to complement injury: implications for macular degeneration.

Zeng S, Whitmore SS, Sohn EH, Riker MJ, Wiley LA, Scheetz TE, Stone EM, Tucker BA, Mullins RF.

J Pathol. 2016 Feb;238(3):446-56. doi: 10.1002/path.4669. Epub 2015 Dec 24.

PMID:
26564985
2.

Audioprofile Surfaces: The 21st Century Audiogram.

Taylor KR, Booth KT, Azaiez H, Sloan CM, Kolbe DL, Glanz EN, Shearer AE, DeLuca AP, Anand VN, Hildebrand MS, Simpson AC, Eppsteiner RW, Scheetz TE, Braun TA, Huygen PL, Smith RJ, Casavant TL.

Ann Otol Rhinol Laryngol. 2015 Nov 3. pii: 0003489415614863. [Epub ahead of print]

PMID:
26530094
3.

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

Small KW, DeLuca AP, Whitmore SS, Rosenberg T, Silva-Garcia R, Udar N, Puech B, Garcia CA, Rice TA, Fishman GA, Héon E, Folk JC, Streb LM, Haas CM, Wiley LA, Scheetz TE, Fingert JH, Mullins RF, Tucker BA, Stone EM.

Ophthalmology. 2016 Jan;123(1):9-18. doi: 10.1016/j.ophtha.2015.10.006. Epub 2015 Oct 24.

4.

Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

DeLuca AP, Whitmore SS, Barnes J, Sharma TP, Westfall TA, Scott CA, Weed MC, Wiley JS, Wiley LA, Johnston RM, Schnieders MJ, Lentz SR, Tucker BA, Mullins RF, Scheetz TE, Stone EM, Slusarski DC.

Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ddv446. Epub 2015 Oct 22.

PMID:
26494905
5.

Quantitative measurement of retinal ganglion cell populations via histology-based random forest classification.

Hedberg-Buenz A, Christopher MA, Lewis CJ, Fernandes KA, Dutca LM, Wang K, Scheetz TE, Abràmoff MD, Libby RT, Garvin MK, Anderson MG.

Exp Eye Res. 2015 Oct 22. pii: S0014-4835(15)30032-4. doi: 10.1016/j.exer.2015.09.011. [Epub ahead of print]

PMID:
26474494
6.

Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.

Khorram D, Choi M, Roos BR, Stone EM, Kopel T, Allen R, Alward WL, Scheetz TE, Fingert JH.

Mol Vis. 2015 Sep 1;21:1017-23. eCollection 2015.

7.

RetFM-J, an ImageJ-based module for automated counting and quantifying features of nuclei in retinal whole-mounts.

Hedberg-Buenz A, Christopher MA, Lewis CJ, Meyer KJ, Rudd DS, Dutca LM, Wang K, Garvin MK, Scheetz TE, Abràmoff MD, Harper MM, Anderson MG.

Exp Eye Res. 2015 Aug 14. pii: S0014-4835(15)00253-5. doi: 10.1016/j.exer.2015.07.020. [Epub ahead of print]

PMID:
26283021
8.

Stereo Photo Measured ONH Shape Predicts Development of POAG in Subjects With Ocular Hypertension.

Christopher M, Abràmoff MD, Tang L, Gordon MO, Kass MA, Budenz DL, Fingert JH, Scheetz TE.

Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4470-9. doi: 10.1167/iovs.14-16142.

9.

Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly.

Hazlewood RJ, Roos BR, Solivan-Timpe F, Honkanen RA, Jampol LM, Gieser SC, Meyer KJ, Mullins RF, Kuehn MH, Scheetz TE, Kwon YH, Alward WL, Stone EM, Fingert JH.

Hum Mutat. 2015 Mar;36(3):369-78. doi: 10.1002/humu.22754.

PMID:
25581579
10.

Sequencing methods and datasets to improve functional interpretation of sleeping beauty mutagenesis screens.

Riordan JD, Drury LJ, Smith RP, Brett BT, Rogers LM, Scheetz TE, Dupuy AJ.

BMC Genomics. 2014 Dec 19;15:1150. doi: 10.1186/1471-2164-15-1150.

11.

Characterization of Cav1.4 complexes (α11.4, β2, and α2δ4) in HEK293T cells and in the retina.

Lee A, Wang S, Williams B, Hagen J, Scheetz TE, Haeseleer F.

J Biol Chem. 2015 Jan 16;290(3):1505-21. doi: 10.1074/jbc.M114.607465. Epub 2014 Dec 2.

12.

Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq.

Whitmore SS, Wagner AH, DeLuca AP, Drack AV, Stone EM, Tucker BA, Zeng S, Braun TA, Mullins RF, Scheetz TE.

Exp Eye Res. 2014 Dec;129:93-106. doi: 10.1016/j.exer.2014.11.001. Epub 2014 Nov 5.

13.

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ.

Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25.

14.

Cordova: web-based management of genetic variation data.

Ephraim SS, Anand N, DeLuca AP, Taylor KR, Kolbe DL, Simpson AC, Azaiez H, Sloan CM, Shearer AE, Hallier AR, Casavant TL, Scheetz TE, Smith RJ, Braun TA.

Bioinformatics. 2014 Dec 1;30(23):3438-9. doi: 10.1093/bioinformatics/btu539. Epub 2014 Aug 14.

15.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.

16.

Altered gene expression in dry age-related macular degeneration suggests early loss of choroidal endothelial cells.

Whitmore SS, Braun TA, Skeie JM, Haas CM, Sohn EH, Stone EM, Scheetz TE, Mullins RF.

Mol Vis. 2013 Nov 16;19:2274-97. eCollection 2013.

17.

Selection of Phototransduction Genes in Homo sapiens.

Christopher M, Scheetz TE, Mullins RF, Abràmoff MD.

Invest Ophthalmol Vis Sci. 2013 Aug 13;54(8):5489-96. doi: 10.1167/iovs.12-11454.

18.

Advancing genetic testing for deafness with genomic technology.

Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, Leproust EM, Smith RJ.

J Med Genet. 2013 Sep;50(9):627-34. doi: 10.1136/jmedgenet-2013-101749. Epub 2013 Jun 26.

19.

Computational identification of operon-like transcriptional loci in eukaryotes.

Nannapaneni K, Ben-Shahar Y, Keen HL, Welsh MJ, Casavant TL, Scheetz TE.

Comput Biol Med. 2013 Jul;43(6):738-43. doi: 10.1016/j.compbiomed.2013.03.004. Epub 2013 Mar 28.

PMID:
23668349
20.

Identification of rtl1, a retrotransposon-derived imprinted gene, as a novel driver of hepatocarcinogenesis.

Riordan JD, Keng VW, Tschida BR, Scheetz TE, Bell JB, Podetz-Pedersen KM, Moser CD, Copeland NG, Jenkins NA, Roberts LR, Largaespada DA, Dupuy AJ.

PLoS Genet. 2013 Apr;9(4):e1003441. doi: 10.1371/journal.pgen.1003441. Epub 2013 Apr 4.

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