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Items: 1 to 50 of 56

1.

BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.

Scheffer IE, Boysen KE, Schneider AL, Myers CT, Mehaffey MG, Rochtus AM, Yuen YP, Ronen GM, Chak WK, Gill D, Poduri A, Mefford HC.

Dev Med Child Neurol. 2019 Dec 23. doi: 10.1111/dmcn.14428. [Epub ahead of print]

PMID:
31868227
2.

Investigation of GTP-dependent dimerization of G12X K-Ras variants using ultraviolet photodissociation mass spectrometry.

Mehaffey MR, Schardon CL, Novelli ET, Cammarata MB, Webb LJ, Fast W, Brodbelt JS.

Chem Sci. 2019 Jul 15;10(34):8025-8034. doi: 10.1039/c9sc01032g. eCollection 2019 Sep 14.

3.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT.

Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379.

PMID:
31834374
4.

Tyr1 phosphorylation promotes phosphorylation of Ser2 on the C-terminal domain of eukaryotic RNA polymerase II by P-TEFb.

Mayfield JE, Irani S, Escobar EE, Zhang Z, Burkholder NT, Robinson MR, Mehaffey MR, Sipe SN, Yang W, Prescott NA, Kathuria KR, Liu Z, Brodbelt JS, Zhang Y.

Elife. 2019 Aug 6;8. pii: e48725. doi: 10.7554/eLife.48725.

5.

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D.

Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):432-439. doi: 10.1002/ajmg.c.31666. Review.

6.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Mefford HC, Sol-Church K.

Am J Hum Genet. 2019 Jan 3;104(1):35-44. doi: 10.1016/j.ajhg.2018.11.005. Epub 2018 Dec 13.

7.

Structural and Functional Studies of a gem-Dimethylating Methyltransferase from a trans-Acyltransferase Assembly Line.

Meinke JL, Mehaffey MR, Wagner DT, Sun N, Zhang Z, Brodbelt JS, Keatinge-Clay AT.

ACS Chem Biol. 2018 Dec 21;13(12):3306-3314. doi: 10.1021/acschembio.8b00733. Epub 2018 Nov 9.

8.

Development of a spatially complete floodplain map of the conterminous United States using random forest.

Woznicki SA, Baynes J, Panlasigui S, Mehaffey M, Neale A.

Sci Total Environ. 2019 Jan 10;647:942-953. doi: 10.1016/j.scitotenv.2018.07.353. Epub 2018 Jul 25.

9.

Quantifying the visual-sensory landscape qualities that contribute to cultural ecosystem services using social media and LiDAR.

Van Berkel DB, Tabrizian P, Dorning MA, Smart L, Newcomb D, Mehaffey M, Neale A, Meentemeyer RK.

Ecosyst Serv. 2018;31:326-335. doi: 10.1016/j.ecoser.2018.03.022.

10.

Multistage Ultraviolet Photodissociation Mass Spectrometry To Characterize Single Amino Acid Variants of Human Mitochondrial BCAT2.

Mehaffey MR, Sanders JD, Holden DD, Nilsson CL, Brodbelt JS.

Anal Chem. 2018 Aug 21;90(16):9904-9911. doi: 10.1021/acs.analchem.8b02099. Epub 2018 Aug 1.

11.

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

Myers CT, Hollingsworth G, Muir AM, Schneider AL, Thuesmunn Z, Knupp A, King C, Lacroix A, Mehaffey MG, Berkovic SF, Carvill GL, Sadleir LG, Scheffer IE, Mefford HC.

N Engl J Med. 2018 Apr 26;378(17):1646-1648. doi: 10.1056/NEJMc1714579. No abstract available.

12.

A mutational comparison of adult and adolescent and young adult (AYA) colon cancer.

Tricoli JV, Boardman LA, Patidar R, Sindiri S, Jang JS, Walsh WD, McGregor PM 3rd, Camalier CE, Mehaffey MG, Furman WL, Bahrami A, Williams PM, Lih CJ, Conley BA, Khan J.

Cancer. 2018 Mar 1;124(5):1070-1082. doi: 10.1002/cncr.31136. Epub 2017 Nov 30.

13.

Tracking the Catalytic Cycle of Adenylate Kinase by Ultraviolet Photodissociation Mass Spectrometry.

Mehaffey MR, Cammarata MB, Brodbelt JS.

Anal Chem. 2018 Jan 2;90(1):839-846. doi: 10.1021/acs.analchem.7b03591. Epub 2017 Dec 15.

14.

Probing the Interaction of Aspergillomarasmine A with Metallo-β-lactamases NDM-1, VIM-2, and IMP-7.

Bergstrom A, Katko A, Adkins Z, Hill J, Cheng Z, Burnett M, Yang H, Aitha M, Mehaffey MR, Brodbelt JS, Tehrani KHME, Martin NI, Bonomo RA, Page RC, Tierney DL, Fast W, Wright GD, Crowder MW.

ACS Infect Dis. 2018 Feb 9;4(2):135-145. doi: 10.1021/acsinfecdis.7b00106. Epub 2017 Nov 9.

15.

SITS Derivatization of Peptides to Enhance 266 nm Ultraviolet Photodissociation (UVPD).

Quick MM, Mehaffey MR, Johns RW, Parker WR, Brodbelt JS.

J Am Soc Mass Spectrom. 2017 Jul;28(7):1462-1472. doi: 10.1007/s13361-017-1650-y. Epub 2017 Mar 17.

PMID:
28315237
16.

Planning for community resilience to future United States domestic water demand.

Pickard BR, Nash M, Baynes J, Mehaffey M.

Landsc Urban Plan. 2017 Feb;158:75-86. doi: 10.1016/j.landurbplan.2016.07.014.

17.

Building a potential wetland restoration indicator for the contiguous United States.

Horvath EK, Christensen JR, Mehaffey MH, Neale AC.

Ecol Indic. 2017;83:462-473. doi: 10.1016/j.ecolind.2017.07.026.

18.

Impact of G12 Mutations on the Structure of K-Ras Probed by Ultraviolet Photodissociation Mass Spectrometry.

Cammarata MB, Schardon CL, Mehaffey MR, Rosenberg J, Singleton J, Fast W, Brodbelt JS.

J Am Chem Soc. 2016 Oct 12;138(40):13187-13196. doi: 10.1021/jacs.6b04474. Epub 2016 Oct 3.

PMID:
27665622
19.

Association between Natural Resources for Outdoor Activities and Physical Inactivity: Results from the Contiguous United States.

Jiang Y, Yuan Y, Neale A, Jackson L, Mehaffey M.

Int J Environ Res Public Health. 2016 Aug 17;13(8). pii: E830. doi: 10.3390/ijerph13080830.

20.

α-Methylation follows condensation in the gephyronic acid modular polyketide synthase.

Wagner DT, Stevens DC, Mehaffey MR, Manion HR, Taylor RE, Brodbelt JS, Keatinge-Clay AT.

Chem Commun (Camb). 2016 Jul 7;52(57):8822-5. doi: 10.1039/c6cc04418b.

21.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G; University of Washington Center for Mendelian Genomics, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB.

Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21.

22.

Plasmid-Based Materials as Multiplex Quality Controls and Calibrators for Clinical Next-Generation Sequencing Assays.

Sims DJ, Harrington RD, Polley EC, Forbes TD, Mehaffey MG, McGregor PM 3rd, Camalier CE, Harper KN, Bouk CH, Das B, Conley BA, Doroshow JH, Williams PM, Lih CJ.

J Mol Diagn. 2016 May;18(3):336-349. doi: 10.1016/j.jmoldx.2015.11.008.

23.

Analytical Validation and Application of a Targeted Next-Generation Sequencing Mutation-Detection Assay for Use in Treatment Assignment in the NCI-MPACT Trial.

Lih CJ, Sims DJ, Harrington RD, Polley EC, Zhao Y, Mehaffey MG, Forbes TD, Das B, Walsh WD, Datta V, Harper KN, Bouk CH, Rubinstein LV, Simon RM, Conley BA, Chen AP, Kummar S, Doroshow JH, Williams PM.

J Mol Diagn. 2016 Jan;18(1):51-67. doi: 10.1016/j.jmoldx.2015.07.006. Epub 2015 Nov 18.

24.

Using mixtures of biological samples as process controls for RNA-sequencing experiments.

Parsons J, Munro S, Pine PS, McDaniel J, Mehaffey M, Salit M.

BMC Genomics. 2015 Sep 17;16:708. doi: 10.1186/s12864-015-1912-7.

25.

Robustness of Next Generation Sequencing on Older Formalin-Fixed Paraffin-Embedded Tissue.

Carrick DM, Mehaffey MG, Sachs MC, Altekruse S, Camalier C, Chuaqui R, Cozen W, Das B, Hernandez BY, Lih CJ, Lynch CF, Makhlouf H, McGregor P, McShane LM, Phillips Rohan J, Walsh WD, Williams PM, Gillanders EM, Mechanic LE, Schully SD.

PLoS One. 2015 Jul 29;10(7):e0127353. doi: 10.1371/journal.pone.0127353. eCollection 2015.

26.

Randomized Trial of Oral Cyclophosphamide and Veliparib in High-Grade Serous Ovarian, Primary Peritoneal, or Fallopian Tube Cancers, or BRCA-Mutant Ovarian Cancer.

Kummar S, Oza AM, Fleming GF, Sullivan DM, Gandara DR, Naughton MJ, Villalona-Calero MA, Morgan RJ Jr, Szabo PM, Youn A, Chen AP, Ji J, Allen DE, Lih CJ, Mehaffey MG, Walsh WD, McGregor PM 3rd, Steinberg SM, Williams PM, Kinders RJ, Conley BA, Simon RM, Doroshow JH.

Clin Cancer Res. 2015 Apr 1;21(7):1574-82. doi: 10.1158/1078-0432.CCR-14-2565. Epub 2015 Jan 14.

27.

Sediment and total phosphorous contributors in Rock River watershed.

Mbonimpa EG, Yuan Y, Nash MS, Mehaffey MH.

J Environ Manage. 2014 Jan 15;133:214-21. doi: 10.1016/j.jenvman.2013.11.030. Epub 2013 Dec 31.

PMID:
24384283
28.

Regulation and expression of the ATP-binding cassette transporter ABCG2 in human embryonic stem cells.

Padmanabhan R, Chen KG, Gillet JP, Handley M, Mallon BS, Hamilton RS, Park K, Varma S, Mehaffey MG, Robey PG, McKay RD, Gottesman MM.

Stem Cells. 2012 Oct;30(10):2175-87. doi: 10.1002/stem.1195.

29.

Midwest U.S. landscape change to 2020 driven by biofuel mandates.

Mehaffey M, Smith E, Van Remortel R.

Ecol Appl. 2012 Jan;22(1):8-19.

PMID:
22471072
30.

Reduced seed region-based off-target activity with lentivirus-mediated RNAi.

Klinghoffer RA, Magnus J, Schelter J, Mehaffey M, Coleman C, Cleary MA.

RNA. 2010 May;16(5):879-84. doi: 10.1261/rna.1977810. Epub 2010 Mar 26.

31.

Evaluating habitat vulnerability to hazardous air pollutants in the southeastern United States.

Mehaffey M, Tankersley R Jr, Miller L, Smith E.

Integr Environ Assess Manag. 2009 Jan;5(1):150-7.

PMID:
19431299
32.

Coronary heart disease of females: lessons learned from nonhuman primates.

Clarkson TB, Mehaffey MH.

Am J Primatol. 2009 Sep;71(9):785-93. doi: 10.1002/ajp.20693. Review.

PMID:
19382155
33.

Linking land cover and water quality in New York City's water supply watersheds.

Mehaffey MH, Nash MS, Wade TG, Ebert DW, Jones KB, Rager A.

Environ Monit Assess. 2005 Aug;107(1-3):29-44.

PMID:
16418903
34.

X-linked thrombocytopenia caused by a novel mutation of GATA-1.

Mehaffey MG, Newton AL, Gandhi MJ, Crossley M, Drachman JG.

Blood. 2001 Nov 1;98(9):2681-8.

PMID:
11675338
36.
37.

Independent formation of DnaseI hypersensitive sites in the murine beta-globin locus control region.

Bender MA, Mehaffey MG, Telling A, Hug B, Ley TJ, Groudine M, Fiering S.

Blood. 2000 Jun 1;95(11):3600-4.

PMID:
10828050
38.

Evaluation of the human choroidal melanoma rabbit model for studying microcirculation patterns with confocal ICG and histology.

Mueller AJ, Folberg R, Freeman WR, Bartsch DU, Bergeron-Lynn G, Mehaffey MG, Kan-Mitchell J, Huang X, Jian G, Avila C, Taskintuna I, Cheng L, Wang J.

Exp Eye Res. 1999 Jun;68(6):671-8.

PMID:
10375430
39.
40.

Microcirculation architecture of metastases from primary ciliary body and choroidal melanomas.

Rummelt V, Mehaffey MG, Campbell RJ, Pe'er J, Bentler SE, Woolson RF, Naumann GO, Folberg R.

Am J Ophthalmol. 1998 Aug;126(2):303-5.

PMID:
9727526
41.

An improved method for generating retroviral producer clones for vectors lacking a selectable marker gene.

Persons DA, Mehaffey MG, Kaleko M, Nienhuis AW, Vanin EF.

Blood Cells Mol Dis. 1998 Jun;24(2):167-82.

PMID:
9642098
42.

Imaging the microvasculature of choroidal melanomas with confocal indocyanine green scanning laser ophthalmoscopy.

Mueller AJ, Bartsch DU, Folberg R, Mehaffey MG, Boldt HC, Meyer M, Gardner LM, Goldbaum MH, Pe'er J, Freeman WR.

Arch Ophthalmol. 1998 Jan;116(1):31-9.

PMID:
9445206
43.

Relative importance of quantifying area and vascular patterns in uveal melanomas.

Mehaffey MG, Folberg R, Meyer M, Bentler SE, Hwang T, Woolson R, Moore KC.

Am J Ophthalmol. 1997 Jun;123(6):798-809.

PMID:
9535624
44.

The microcirculation of choroidal and ciliary body melanomas.

Folberg R, Mehaffey M, Gardner LM, Meyer M, Rummelt V, Pe'er J.

Eye (Lond). 1997;11 ( Pt 2):227-38. Review.

PMID:
9349418
45.

Correlation of ultrasound parameter imaging with microcirculatory patterns in uveal melanomas.

Silverman RH, Folberg R, Boldt HC, Lloyd HO, Rondeau MJ, Mehaffey MG, Lizzi FL, Coleman DJ.

Ultrasound Med Biol. 1997;23(4):573-81.

PMID:
9232766
46.

Evaluation of infectious crystalline keratitis with confocal microscopy in a case series.

Sutphin JE, Kantor AL, Mathers WD, Mehaffey MG.

Cornea. 1997 Jan;16(1):21-6.

PMID:
8985629
47.

Visual field defects after macular hole surgery.

Boldt HC, Munden PM, Folk JC, Mehaffey MG.

Am J Ophthalmol. 1996 Sep;122(3):371-81.

PMID:
8794710
48.

Mapping the Location of Prognostically Significant Microcirculatory Patterns in Ciliary Body and Choroidal Melanomas.

Folberg R, Fleck M, Mehaffey MG, Meyer M, Bentler SE, Woolson RF, Pe'er J.

Pathol Oncol Res. 1996;2(4):229-236.

49.

In vivo gene delivery and expression of physiological levels of functional human factor VIII in mice.

Connelly S, Smith TA, Dhir G, Gardner JM, Mehaffey MG, Zaret KS, McClelland A, Kaleko M.

Hum Gene Ther. 1995 Feb;6(2):185-93.

PMID:
7537539
50.

Need for more career counseling.

Hesser A, Mehaffey M, Thompson M.

Acad Med. 1995 Jan;70(1):1. No abstract available.

PMID:
7826433

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