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Items: 1 to 50 of 554

1.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S.

Genet Med. 2018 Sep 7. doi: 10.1038/s41436-018-0266-3. [Epub ahead of print]

PMID:
30190612
2.

Cervical Cancer Burden and Opportunities for Prevention in a Safety-net Healthcare System.

Pruitt SL, Werner CL, Borton EK, Sanders JM, Balasubramanian BA, Barnes A, Betts AC, Skinner CS, Tiro JA.

Cancer Epidemiol Biomarkers Prev. 2018 Sep 5. pii: cebp.0912.2017. doi: 10.1158/1055-9965.EPI-17-0912. [Epub ahead of print]

PMID:
30185535
3.

Social disadvantage, healthcare utilization, and colorectal cancer screening: Leveraging longitudinal patient address and electronic health records data.

Hughes AE, Tiro JA, Balasubramanian BA, Skinner CS, Pruitt SL.

Cancer Epidemiol Biomarkers Prev. 2018 Aug 22. pii: cebp.0446.2018. doi: 10.1158/1055-9965.EPI-18-0446. [Epub ahead of print]

PMID:
30135072
4.

Factors Associated with Adherence to Mammography Screening Among Insured Women Differ by Income Levels.

Gathirua-Mwangi W, Cohee A, Tarver WL, Marley A, Biederman E, Stump T, Monahan P, Rawl S, Skinner CS, Champion VL.

Womens Health Issues. 2018 Aug 8. pii: S1049-3867(17)30665-5. doi: 10.1016/j.whi.2018.06.001. [Epub ahead of print]

PMID:
30098875
5.

The Promoting Activity in Cancer Survivors (PACES) trial: a multiphase optimization of strategy approach to increasing physical activity in breast cancer survivors.

Rethorst CD, Hamann HA, Carmody TJ, Sharp KJ, Argenbright KE, Haley BB, Skinner CS, Trivedi MH.

BMC Cancer. 2018 Jul 18;18(1):744. doi: 10.1186/s12885-018-4662-5.

6.

Obstetric Care by Family Physicians and Infant Mortality in Rural Alabama.

Powell J, Skinner C, Lavender D, Avery D, Leeper J.

J Am Board Fam Med. 2018 Jul-Aug;31(4):542-549. doi: 10.3122/jabfm.2018.04.170376.

7.

Modulation of Dietary Methionine Intake Elicits Potent, yet Distinct, Anticancer Effects on Primary Versus Metastatic Tumors.

Miousse IR, Tobacyk J, Quick CM, Jamshidi-Parsian A, Skinner CM, Kore R, Melnyk SB, Kutanzi KR, Xia F, Griffin RJ, Koturbash I.

Carcinogenesis. 2018 Jun 23. doi: 10.1093/carcin/bgy085. [Epub ahead of print]

PMID:
29939201
8.

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.

Abad C, Cook MM, Cao L, Jones JR, Rao NR, Dukes-Rimsky L, Pauly R, Skinner C, Wang Y, Luo F, Stevenson RE, Walz K, Srivastava AK.

Biology (Basel). 2018 May 24;7(2). pii: E31. doi: 10.3390/biology7020031.

9.

Cervical cancer screening among HIV-infected women in an urban, United States safety-net healthcare system.

Barnes A, Betts AC, Borton EK, Sanders JM, Pruitt SL, Werner C, Bran A, Estelle CD, Balasubramanian BA, Inrig SJ, Halm EA, Skinner CS, Tiro JA.

AIDS. 2018 Aug 24;32(13):1861-1870. doi: 10.1097/QAD.0000000000001881.

PMID:
29762164
10.

Timely follow-up of positive cancer screening results: A systematic review and recommendations from the PROSPR Consortium.

Doubeni CA, Gabler NB, Wheeler CM, McCarthy AM, Castle PE, Halm EA, Schnall MD, Skinner CS, Tosteson ANA, Weaver DL, Vachani A, Mehta SJ, Rendle KA, Fedewa SA, Corley DA, Armstrong K.

CA Cancer J Clin. 2018 May;68(3):199-216. doi: 10.3322/caac.21452. Epub 2018 Mar 30. Review.

11.

Amplification of heat extremes by plant CO2 physiological forcing.

Skinner CB, Poulsen CJ, Mankin JS.

Nat Commun. 2018 Mar 15;9(1):1094. doi: 10.1038/s41467-018-03472-w.

12.

Identifying quality improvement targets to facilitate colorectal cancer screening completion.

Lee SJC, Inrig SJ, Balasubramanian BA, Skinner CS, Higashi RT, McCallister K, Bishop WP, Santini NO, Tiro JA.

Prev Med Rep. 2018 Feb 2;9:138-143. doi: 10.1016/j.pmedr.2018.01.004. eCollection 2018 Mar.

13.

Patterns and predictors of repeat fecal immunochemical and occult blood test screening in four large health care systems in the United States.

Singal AG, Corley DA, Kamineni A, Garcia M, Zheng Y, Doria-Rose PV, Quinn VP, Jensen CD, Chubak J, Tiro J, Doubeni CA, Ghai NR, Skinner CS, Wernli K, Halm EA.

Am J Gastroenterol. 2018 May;113(5):746-754. doi: 10.1038/s41395-018-0023-x. Epub 2018 Feb 27.

PMID:
29487413
14.

Adherence to colorectal cancer screening measured as the proportion of time covered.

Murphy CC, Sigel BM, Yang E, Skinner CS, Halm EA, Gupta S, Sanders JM, McCallister K, Singal AG.

Gastrointest Endosc. 2018 Aug;88(2):323-331.e2. doi: 10.1016/j.gie.2018.02.023. Epub 2018 Feb 23.

PMID:
29477302
15.

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C.

Schenkel LC, Aref-Eshghi E, Skinner C, Ainsworth P, Lin H, Paré G, Rodenhiser DI, Schwartz C, Sadikovic B.

Clin Epigenetics. 2018 Feb 14;10:21. doi: 10.1186/s13148-018-0453-8. eCollection 2018.

16.

Communication Practices of Mammography Facilities and Timely Follow-up of a Screening Mammogram with a BI-RADS 0 Assessment.

Schapira MM, Barlow WE, Conant EF, Sprague BL, Tosteson ANA, Haas JS, Onega T, Beaber EF, Goodrich M, McCarthy AM, Herschorn SD, Skinner CS, Harrington TO, Geller B.

Acad Radiol. 2018 Sep;25(9):1118-1127. doi: 10.1016/j.acra.2017.12.028. Epub 2018 Feb 9.

PMID:
29433892
17.

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

Aref-Eshghi E, Rodenhiser DI, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Hood RL, Bulman DE, Kernohan KD; Care4Rare Canada Consortium, Boycott KM, Campeau PM, Schwartz C, Sadikovic B.

Am J Hum Genet. 2018 Jan 4;102(1):156-174. doi: 10.1016/j.ajhg.2017.12.008.

18.

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, Stawinski P, Bal J, Hoffman DA, Schwartz CE, Van Maldergem L, Wang T, Worley PF.

Hum Mol Genet. 2018 Feb 15;27(4):589-600. doi: 10.1093/hmg/ddx426.

PMID:
29267967
19.

iPhemap: an atlas of phenotype to genotype relationships of human iPSC models of neurological diseases.

Hollingsworth EW, Vaughn JE, Orack JC, Skinner C, Khouri J, Lizarraga SB, Hester ME, Watanabe F, Kosik KS, Imitola J.

EMBO Mol Med. 2017 Dec;9(12):1742-1762. doi: 10.15252/emmm.201708191.

20.

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.

Aref-Eshghi E, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Rodenhiser D, Schwartz C, Sadikovic B.

Epigenetics. 2017;12(11):923-933. doi: 10.1080/15592294.2017.1381807. Epub 2017 Nov 7.

PMID:
28933623
21.

Short-term dietary methionine supplementation affects one-carbon metabolism and DNA methylation in the mouse gut and leads to altered microbiome profiles, barrier function, gene expression and histomorphology.

Miousse IR, Pathak R, Garg S, Skinner CM, Melnyk S, Pavliv O, Hendrickson H, Landes RD, Lumen A, Tackett AJ, Deutz NEP, Hauer-Jensen M, Koturbash I.

Genes Nutr. 2017 Sep 6;12:22. doi: 10.1186/s12263-017-0576-0. eCollection 2017.

22.

Effect of Colonoscopy Outreach vs Fecal Immunochemical Test Outreach on Colorectal Cancer Screening Completion: A Randomized Clinical Trial.

Singal AG, Gupta S, Skinner CS, Ahn C, Santini NO, Agrawal D, Mayorga CA, Murphy C, Tiro JA, McCallister K, Sanders JM, Bishop WP, Loewen AC, Halm EA.

JAMA. 2017 Sep 5;318(9):806-815. doi: 10.1001/jama.2017.11389.

23.

A 12-Month Review of Revisional Single Anastomosis Gastric Bypass for Complicated Laparoscopic Adjustable Gastric Banding for Body Mass Index over 35.

Ghosh S, Bui TL, Skinner CE, Tan S, Hopkins G.

Obes Surg. 2017 Nov;27(11):3048-3054. doi: 10.1007/s11695-017-2887-z.

PMID:
28852957
24.

Safety assessment of the dietary supplement OxyELITE™ Pro (New Formula) in inbred and outbred mouse strains.

Miousse IR, Skinner CM, Lin H, Ewing LE, Kosanke SD, Williams DK, Avula B, Khan IA, ElSohly MA, Gurley BJ, Koturbash I.

Food Chem Toxicol. 2017 Nov;109(Pt 1):194-209. doi: 10.1016/j.fct.2017.08.025. Epub 2017 Aug 24.

PMID:
28843594
25.

Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders.

Aref-Eshghi E, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Siu V, Rodenhiser D, Schwartz C, Sadikovic B.

J Mol Diagn. 2017 Nov;19(6):848-856. doi: 10.1016/j.jmoldx.2017.07.002. Epub 2017 Aug 12.

PMID:
28807811
26.

An Epstein-Barr Virus MicroRNA Blocks Interleukin-1 (IL-1) Signaling by Targeting IL-1 Receptor 1.

Skinner CM, Ivanov NS, Barr SA, Chen Y, Skalsky RL.

J Virol. 2017 Oct 13;91(21). pii: e00530-17. doi: 10.1128/JVI.00530-17. Print 2017 Nov 1.

27.

Comparison of Alternative Tumor Size Classifications for Posterior Uveal Melanomas.

Skinner CC, Augsburger JJ, Augsburger BD, Correa ZM.

Invest Ophthalmol Vis Sci. 2017 Jul 1;58(9):3335-3342. doi: 10.1167/iovs.16-20465.

PMID:
28672400
28.

A case of fatal idiosyncratic reaction to the designer drug 3,4-methylenedioxypyrovalerone (MDPV) and review of the literature.

Desharnais B, Dazé Y, Huppertz LM, Mireault P, Skinner CD.

Forensic Sci Med Pathol. 2017 Sep;13(3):350-354. doi: 10.1007/s12024-017-9894-1. Epub 2017 Jul 1. Review.

PMID:
28668987
29.

Recommendation of colorectal cancer testing among primary care patients younger than 50 with elevated risk.

Skinner CS, Ahn C, Halm EA, Bishop WP, McCallister K, Sanders JM, Farrell D, Santini N, Singal AG.

Prev Med. 2017 Sep;102:20-23. doi: 10.1016/j.ypmed.2017.06.014. Epub 2017 Jun 15.

30.

MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.

Donnio LM, Bidon B, Hashimoto S, May M, Epanchintsev A, Ryan C, Allen W, Hackett A, Gecz J, Skinner C, Stevenson RE, de Brouwer APM, Coutton C, Francannet C, Jouk PS, Schwartz CE, Egly JM.

Hum Mol Genet. 2017 Jun 1;26(11):2062-2075. doi: 10.1093/hmg/ddx099.

PMID:
28369444
31.

Recurrent non-epileptiform seizure-like phenomena secondary to propofol administration.

Fernando SM, Fitzpatrick T, Hurdle H, Anand A, Skinner CR, Boyd KU, Dumitrascu G, Hooper J.

Can J Anaesth. 2017 Jul;64(7):783-785. doi: 10.1007/s12630-017-0869-1. Epub 2017 Mar 27. No abstract available.

PMID:
28349315
32.

Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.

Vaidyanathan K, Niranjan T, Selvan N, Teo CF, May M, Patel S, Weatherly B, Skinner C, Opitz J, Carey J, Viskochil D, Gecz J, Shaw M, Peng Y, Alexov E, Wang T, Schwartz C, Wells L.

J Biol Chem. 2017 May 26;292(21):8948-8963. doi: 10.1074/jbc.M116.771030. Epub 2017 Mar 16.

33.

Racial/ethnic differences in obesity and comorbidities between safety-net- and non safety-net integrated health systems.

Balasubramanian BA, Garcia MP, Corley DA, Doubeni CA, Haas JS, Kamineni A, Quinn VP, Wernli K, Zheng Y, Skinner CS.

Medicine (Baltimore). 2017 Mar;96(11):e6326. doi: 10.1097/MD.0000000000006326.

34.

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.

Schenkel LC, Kernohan KD, McBride A, Reina D, Hodge A, Ainsworth PJ, Rodenhiser DI, Pare G, Bérubé NG, Skinner C, Boycott KM, Schwartz C, Sadikovic B.

Epigenetics Chromatin. 2017 Mar 10;10:10. doi: 10.1186/s13072-017-0118-4. eCollection 2017.

35.

Procedure for the Selection and Validation of a Calibration Model II-Theoretical Basis.

Desharnais B, Camirand-Lemyre F, Mireault P, Skinner CD.

J Anal Toxicol. 2017 May 1;41(4):269-276. doi: 10.1093/jat/bkx002.

PMID:
28158619
36.

Procedure for the Selection and Validation of a Calibration Model I-Description and Application.

Desharnais B, Camirand-Lemyre F, Mireault P, Skinner CD.

J Anal Toxicol. 2017 May 1;41(4):261-268. doi: 10.1093/jat/bkx001.

PMID:
28137730
37.

Economic Preferences and Obesity among a Low-Income African American Community.

de Oliveira AC, Leonard TC, Shuval K, Skinner CS, Eckel C, Murdoch JC.

J Econ Behav Organ. 2016 Nov;131(B):196-208. doi: 10.1016/j.jebo.2015.11.002. Epub 2015 Nov 24.

38.

Nanoparticle delivery of Cas9 ribonucleoprotein and donor DNA in vivo induces homology-directed DNA repair.

Lee K, Conboy M, Park HM, Jiang F, Kim HJ, Dewitt MA, Mackley VA, Chang K, Rao A, Skinner C, Shobha T, Mehdipour M, Liu H, Huang WC, Lan F, Bray NL, Li S, Corn JE, Kataoka K, Doudna JA, Conboy I, Murthy N.

Nat Biomed Eng. 2017;1:889-901. doi: 10.1038/s41551-017-0137-2. Epub 2017 Oct 2.

39.

Persistent Breast Pain Among Women With Histories of Breast-conserving Surgery for Breast Cancer Compared With Women Without Histories of Breast Surgery or Cancer.

Edmond SN, Shelby RA, Keefe FJ, Fisher HM, Schmidt JE, Soo MS, Skinner CS, Ahrendt GM, Manculich J, Sumkin JH, Zuley ML, Bovbjerg DH.

Clin J Pain. 2017 Jan;33(1):51-56.

40.

Translating self-persuasion into an adolescent HPV vaccine promotion intervention for parents attending safety-net clinics.

Baldwin AS, Denman DC, Sala M, Marks EG, Shay LA, Fuller S, Persaud D, Lee SC, Skinner CS, Wiebe DJ, Tiro JA.

Patient Educ Couns. 2017 Apr;100(4):736-741. doi: 10.1016/j.pec.2016.11.014. Epub 2016 Nov 20.

41.

Unraveling wall conditioning effects on plasma facing components in NSTX-U with the Materials Analysis Particle Probe (MAPP).

Bedoya F, Allain JP, Kaita R, Skinner CH, Buzi L, Koel BE.

Rev Sci Instrum. 2016 Nov;87(11):11D403.

PMID:
27910555
42.

Socioecological transitions trigger fire regime shifts and modulate fire-climate interactions in the Sierra Nevada, USA, 1600-2015 CE.

Taylor AH, Trouet V, Skinner CN, Stephens S.

Proc Natl Acad Sci U S A. 2016 Nov 29;113(48):13684-13689. Epub 2016 Nov 14.

43.

"HEADS UP" DIGITALLY ASSISTED SURGICAL VIEWING FOR RETINAL DETACHMENT REPAIR IN A PATIENT WITH SEVERE KYPHOSIS.

Skinner CC, Riemann CD.

Retin Cases Brief Rep. 2018 Summer;12(3):257-259. doi: 10.1097/ICB.0000000000000486.

PMID:
27841831
44.

Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array.

Schenkel LC, Schwartz C, Skinner C, Rodenhiser DI, Ainsworth PJ, Pare G, Sadikovic B.

J Mol Diagn. 2016 Nov;18(6):834-841. doi: 10.1016/j.jmoldx.2016.06.005. Epub 2016 Aug 29.

PMID:
27585064
45.

Evaluating a computer flash-card sight-word recognition intervention with self-determined response intervals in elementary students with intellectual disability.

Cazzell S, Skinner CH, Ciancio D, Aspiranti K, Watson T, Taylor K, McCurdy M, Skinner A.

Sch Psychol Q. 2017 Sep;32(3):367-378. doi: 10.1037/spq0000172. Epub 2016 Sep 29.

PMID:
27684537
46.

Breast cancer screening initiation after turning 40 years of age within the PROSPR consortium.

Beaber EF, Tosteson AN, Haas JS, Onega T, Sprague BL, Weaver DL, McCarthy AM, Doubeni CA, Quinn VP, Skinner CS, Zauber AG, Barlow WE.

Breast Cancer Res Treat. 2016 Nov;160(2):323-331. Epub 2016 Sep 24.

47.

Pharmacological approaches to restoring lens transparency: Real world applications.

Skinner C, Miraldi Utz V.

Ophthalmic Genet. 2017 May-Jun;38(3):201-205. doi: 10.1080/13816810.2016.1214971. Epub 2016 Sep 20. Review.

PMID:
27648776
48.

Cumulative Instructional Time and Relative Effectiveness Conclusions: Extending Research on Response Intervals, Learning, and Measurement Scale.

Black MP, Skinner CH, Forbes BE, McCurdy M, Coleman MB, Davis K, Gettelfinger M.

Behav Anal Pract. 2016 Feb 16;9(1):58-62. doi: 10.1007/s40617-016-0114-3. eCollection 2016 Mar.

49.

Evidence for water-mediated mechanisms in coral-algal interactions.

Jorissen H, Skinner C, Osinga R, de Beer D, Nugues MM.

Proc Biol Sci. 2016 Aug 17;283(1836). pii: 20161137. doi: 10.1098/rspb.2016.1137.

50.

Densely ionizing radiation affects DNA methylation of selective LINE-1 elements.

Prior S, Miousse IR, Nzabarushimana E, Pathak R, Skinner C, Kutanzi KR, Allen AR, Raber J, Tackett AJ, Hauer-Jensen M, Nelson GA, Koturbash I.

Environ Res. 2016 Oct;150:470-81. doi: 10.1016/j.envres.2016.06.043. Epub 2016 Jul 14.

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