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Implementation of Pharmacogenetics at Cincinnati Children's Hospital Medical Center: Lessons Learned Over 14 Years of Personalizing Medicine.

Ramsey LB, Prows CA, Zhang K, Saldaña SN, Sorter MT, Pestian JP, Wenstrup RJ, Vinks AA, Glauser TA.

Clin Pharmacol Ther. 2019 Jan;105(1):49-52. doi: 10.1002/cpt.1165. Epub 2018 Jul 29. Review. No abstract available.


Impact of homologous recombination deficiency biomarkers on outcomes in patients with triple-negative breast cancer treated with adjuvant doxorubicin and cyclophosphamide (SWOG S9313).

Sharma P, Barlow WE, Godwin AK, Pathak H, Isakova K, Williams D, Timms KM, Hartman AR, Wenstrup RJ, Linden HM, Tripathy D, Hortobagyi GN, Hayes DF.

Ann Oncol. 2018 Mar 1;29(3):654-660. doi: 10.1093/annonc/mdx821.


Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.

Chaffee KG, Oberg AL, McWilliams RR, Majithia N, Allen BA, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Petersen GM.

Genet Med. 2018 Jan;20(1):119-127. doi: 10.1038/gim.2017.85. Epub 2017 Jul 20.


Community Practice Implementation of a Self-administered Version of PREMM1,2,6 to Assess Risk for Lynch Syndrome.

Luba DG, DiSario JA, Rock C, Saraiya D, Moyes K, Brown K, Rushton K, Ogara MM, Raphael M, Zimmerman D, Garrido K, Silguero E, Nelson J, Yurgelun MB, Kastrinos F, Wenstrup RJ, Syngal S.

Clin Gastroenterol Hepatol. 2018 Jan;16(1):49-58. doi: 10.1016/j.cgh.2017.06.038. Epub 2017 Jun 28.


Diagnostic Distinction of Malignant Melanoma and Benign Nevi by a Gene Expression Signature and Correlation to Clinical Outcomes.

Ko JS, Matharoo-Ball B, Billings SD, Thomson BJ, Tang JY, Sarin KY, Cai E, Kim J, Rock C, Kimbrell HZ, Flake DD 2nd, Warf MB, Nelson J, Davis T, Miller C, Rushton K, Hartman AR, Wenstrup RJ, Clarke LE.

Cancer Epidemiol Biomarkers Prev. 2017 Jul;26(7):1107-1113. doi: 10.1158/1055-9965.EPI-16-0958. Epub 2017 Apr 4.


Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S.

J Clin Oncol. 2017 Apr 1;35(10):1086-1095. doi: 10.1200/JCO.2016.71.0012. Epub 2017 Jan 30.


Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes.

Kerr ID, Cox HC, Moyes K, Evans B, Burdett BC, van Kan A, McElroy H, Vail PJ, Brown KL, Sumampong DB, Monteferrante NJ, Hardman KL, Theisen A, Mundt E, Wenstrup RJ, Eggington JM.

J Community Genet. 2017 Apr;8(2):87-95. doi: 10.1007/s12687-016-0289-x. Epub 2017 Jan 3.


An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevi.

Clarke LE, Flake DD 2nd, Busam K, Cockerell C, Helm K, McNiff J, Reed J, Tschen J, Kim J, Barnhill R, Elenitsas R, Prieto VG, Nelson J, Kimbrell H, Kolquist KA, Brown KL, Warf MB, Roa BB, Wenstrup RJ.

Cancer. 2017 Feb 15;123(4):617-628. doi: 10.1002/cncr.30385. Epub 2016 Oct 21.


Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE.

J Clin Oncol. 2016 May 1;34(13):1460-8. doi: 10.1200/JCO.2015.65.0747. Epub 2016 Mar 14.


Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories.

Saam J, Arnell C, Theisen A, Moyes K, Marino I, Roundy KM, Wenstrup RJ.

Oncology. 2015;89(5):288-93. doi: 10.1159/000437307. Epub 2015 Aug 28.


Development of a blood-based molecular biomarker test for identification of schizophrenia before disease onset.

Chan MK, Krebs MO, Cox D, Guest PC, Yolken RH, Rahmoune H, Rothermundt M, Steiner J, Leweke FM, van Beveren NJ, Niebuhr DW, Weber NS, Cowan DN, Suarez-Pinilla P, Crespo-Facorro B, Mam-Lam-Fook C, Bourgin J, Wenstrup RJ, Kaldate RR, Cooper JD, Bahn S.

Transl Psychiatry. 2015 Jul 14;5:e601. doi: 10.1038/tp.2015.91.


Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S.

Gastroenterology. 2015 Sep;149(3):604-13.e20. doi: 10.1053/j.gastro.2015.05.006. Epub 2015 May 14.


Erratum to: Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry.

Rosenthal E, Moyes K, Arnell C, Evans B, Wenstrup RJ.

Breast Cancer Res Treat. 2015 May;151(1):233. doi: 10.1007/s10549-015-3361-z.


Analytical validation of a melanoma diagnostic gene signature using formalin-fixed paraffin-embedded melanocytic lesions.

Warf MB, Flake DD 2nd, Adams D, Gutin A, Kolquist KA, Wenstrup RJ, Roa BB.

Biomark Med. 2015;9(5):407-16. doi: 10.2217/bmm.15.11. Epub 2015 Mar 27.


Targeted deletion of collagen V in tendons and ligaments results in a classic Ehlers-Danlos syndrome joint phenotype.

Sun M, Connizzo BK, Adams SM, Freedman BR, Wenstrup RJ, Soslowsky LJ, Birk DE.

Am J Pathol. 2015 May;185(5):1436-47. doi: 10.1016/j.ajpath.2015.01.031. Epub 2015 Mar 20.


Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.

Vail PJ, Morris B, van Kan A, Burdett BC, Moyes K, Theisen A, Kerr ID, Wenstrup RJ, Eggington JM.

J Community Genet. 2015 Oct;6(4):351-9. doi: 10.1007/s12687-015-0220-x. Epub 2015 Mar 18.


Clinical validation of a gene expression signature that differentiates benign nevi from malignant melanoma.

Clarke LE, Warf MB, Flake DD 2nd, Hartman AR, Tahan S, Shea CR, Gerami P, Messina J, Florell SR, Wenstrup RJ, Rushton K, Roundy KM, Rock C, Roa B, Kolquist KA, Gutin A, Billings S, Leachman S.

J Cutan Pathol. 2015 Apr;42(4):244-52. doi: 10.1111/cup.12475. Epub 2015 Apr 13.


Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.

Rosenthal ET, Bowles KR, Pruss D, van Kan A, Vail PJ, McElroy H, Wenstrup RJ.

Clin Genet. 2015 Dec;88(6):533-41. doi: 10.1111/cge.12560. Epub 2015 Feb 11.


Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry.

Rosenthal E, Moyes K, Arnell C, Evans B, Wenstrup RJ.

Breast Cancer Res Treat. 2015 Jan;149(1):223-7. doi: 10.1007/s10549-014-3218-x. Epub 2014 Dec 6. Erratum in: Breast Cancer Res Treat. 2015 May;151(1):233.


Validation of a molecular and pathological model for five-year mortality risk in patients with early stage lung adenocarcinoma.

Bueno R, Hughes E, Wagner S, Gutin AS, Lanchbury JS, Zheng Y, Archer MA, Gustafson C, Jones JT, Rushton K, Saam J, Kim E, Barberis M, Wistuba I, Wenstrup RJ, Wallace WA, Hartman AR, Harrison DJ.

J Thorac Oncol. 2015 Jan;10(1):67-73. doi: 10.1097/JTO.0000000000000365.


BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

Zhen DB, Rabe KG, Gallinger S, Syngal S, Schwartz AG, Goggins MG, Hruban RH, Cote ML, McWilliams RR, Roberts NJ, Cannon-Albright LA, Li D, Moyes K, Wenstrup RJ, Hartman AR, Seminara D, Klein AP, Petersen GM.

Genet Med. 2015 Jul;17(7):569-77. doi: 10.1038/gim.2014.153. Epub 2014 Nov 20.


Response to Cragun et al.

Kerr ID, Nix P, Wenstrup RJ.

Clin Genet. 2015 Aug;88(2):200. doi: 10.1111/cge.12510. Epub 2014 Oct 28. No abstract available.


Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR.

Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.


Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

Pruss D, Morris B, Hughes E, Eggington JM, Esterling L, Robinson BS, van Kan A, Fernandes PH, Roa BB, Gutin A, Wenstrup RJ, Bowles KR.

Breast Cancer Res Treat. 2014 Aug;147(1):119-32. doi: 10.1007/s10549-014-3065-9. Epub 2014 Aug 2.


A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes.

Eggington JM, Bowles KR, Moyes K, Manley S, Esterling L, Sizemore S, Rosenthal E, Theisen A, Saam J, Arnell C, Pruss D, Bennett J, Burbidge LA, Roa B, Wenstrup RJ.

Clin Genet. 2014 Sep;86(3):229-37. doi: 10.1111/cge.12315. Epub 2013 Dec 20.


Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas.

Grover S, Kastrinos F, Steyerberg EW, Cook EF, Dewanwala A, Burbidge LA, Wenstrup RJ, Syngal S.

JAMA. 2012 Aug 1;308(5):485-492. doi: 10.1001/jama.2012.8780.


Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

Biswas K, Das R, Eggington JM, Qiao H, North SL, Stauffer S, Burkett SS, Martin BK, Southon E, Sizemore SC, Pruss D, Bowles KR, Roa BB, Hunter N, Tessarollo L, Wenstrup RJ, Byrd RA, Sharan SK.

Hum Mol Genet. 2012 Sep 15;21(18):3993-4006. doi: 10.1093/hmg/dds222. Epub 2012 Jun 7.


Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer.

Hartman AR, Kaldate RR, Sailer LM, Painter L, Grier CE, Endsley RR, Griffin M, Hamilton SA, Frye CA, Silberman MA, Wenstrup RJ, Sandbach JF.

Cancer. 2012 Jun 1;118(11):2787-95. doi: 10.1002/cncr.26576. Epub 2011 Oct 5.


Clinical significance of large rearrangements in BRCA1 and BRCA2.

Judkins T, Rosenthal E, Arnell C, Burbidge LA, Geary W, Barrus T, Schoenberger J, Trost J, Wenstrup RJ, Roa BB.

Cancer. 2012 Nov 1;118(21):5210-6. doi: 10.1002/cncr.27556. Epub 2012 Apr 27.


Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model.

Sun M, Chen S, Adams SM, Florer JB, Liu H, Kao WW, Wenstrup RJ, Birk DE.

J Cell Sci. 2011 Dec 1;124(Pt 23):4096-105. doi: 10.1242/jcs.091363. Epub 2011 Dec 8.


Body surface area-based dosing of 5-fluoruracil results in extensive interindividual variability in 5-fluorouracil exposure in colorectal cancer patients on FOLFOX regimens.

Saam J, Critchfield GC, Hamilton SA, Roa BB, Wenstrup RJ, Kaldate RR.

Clin Colorectal Cancer. 2011 Sep;10(3):203-6. doi: 10.1016/j.clcc.2011.03.015. Epub 2011 Apr 28. No abstract available.


Regulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI in developing tendon.

Wenstrup RJ, Smith SM, Florer JB, Zhang G, Beason DP, Seegmiller RE, Soslowsky LJ, Birk DE.

J Biol Chem. 2011 Jun 10;286(23):20455-65. doi: 10.1074/jbc.M111.223693. Epub 2011 Apr 5.


Prevalence of BRCA1 and BRCA2 mutations in women with breast carcinoma In Situ and referred for genetic testing.

Hall MJ, Reid JE, Wenstrup RJ.

Cancer Prev Res (Phila). 2010 Dec;3(12):1579-85. doi: 10.1158/1940-6207.CAPR-09-0218.


Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.

Malfait F, Wenstrup RJ, De Paepe A.

Genet Med. 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. Review.


The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history.

Kastrinos F, Steyerberg EW, Mercado R, Balmaña J, Holter S, Gallinger S, Siegmund KD, Church JM, Jenkins MA, Lindor NM, Thibodeau SN, Burbidge LA, Wenstrup RJ, Syngal S.

Gastroenterology. 2011 Jan;140(1):73-81. doi: 10.1053/j.gastro.2010.08.021. Epub 2010 Aug 19. Erratum in: Gastroenterology. 2012 Nov;143(5):1399. Gastroenterology. 2012 Nov;143(5):1399.


BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.

Hall MJ, Reid JE, Burbidge LA, Pruss D, Deffenbaugh AM, Frye C, Wenstrup RJ, Ward BE, Scholl TA, Noll WW.

Cancer. 2009 May 15;115(10):2222-33. doi: 10.1002/cncr.24200. Erratum in: Cancer. 2009 Jun 15;115(12):2804.


A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE.

Am J Hum Genet. 2007 Nov;81(5):873-83. Epub 2007 Sep 6.


A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I.

Genet Med. 2007 Jul;9(7):413-26.


Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects.

Zhang K, Johnson JA, Biroschak J, Villanueva J, Lee SM, Bleesing JJ, Risma KA, Wenstrup RJ, Filipovich AH.

Int J Immunogenet. 2007 Aug;34(4):231-3. No abstract available.


Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease.

Wenstrup RJ, Kacena KA, Kaplan P, Pastores GM, Prakash-Cheng A, Zimran A, Hangartner TN.

J Bone Miner Res. 2007 Jan;22(1):119-26.


ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development.

Lincoln J, Florer JB, Deutsch GH, Wenstrup RJ, Yutzey KE.

Dev Dyn. 2006 Dec;235(12):3295-305.


Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages.

Wenstrup RJ, Florer JB, Davidson JM, Phillips CL, Pfeiffer BJ, Menezes DW, Chervoneva I, Birk DE.

J Biol Chem. 2006 May 5;281(18):12888-95. Epub 2006 Feb 20.


Structural abnormalities of the cornea and lid resulting from collagen V mutations.

Segev F, Héon E, Cole WG, Wenstrup RJ, Young F, Slomovic AR, Rootman DS, Whitaker-Menezes D, Chervoneva I, Birk DE.

Invest Ophthalmol Vis Sci. 2006 Feb;47(2):565-73.


A genetic approach to fracture epidemiology in childhood.

Tinkle BT, Wenstrup RJ.

Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):38-54.


Endogenously expressed multimeric self-cleaving hammerhead ribozymes ablate mutant collagen in cellulo.

Peace BE, Florer JB, Witte D, Smicun Y, Toudjarska I, Wu G, Kilpatrick MW, Tsipouras P, Wenstrup RJ.

Mol Ther. 2005 Jul;12(1):128-36.


Type V collagen controls the initiation of collagen fibril assembly.

Wenstrup RJ, Florer JB, Brunskill EW, Bell SM, Chervoneva I, Birk DE.

J Biol Chem. 2004 Dec 17;279(51):53331-7. Epub 2004 Sep 21.


Mesenchymal stem cells used for rabbit tendon repair can form ectopic bone and express alkaline phosphatase activity in constructs.

Harris MT, Butler DL, Boivin GP, Florer JB, Schantz EJ, Wenstrup RJ.

J Orthop Res. 2004 Sep;22(5):998-1003.


Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss.

Li R, Greinwald JH Jr, Yang L, Choo DI, Wenstrup RJ, Guan MX.

J Med Genet. 2004 Aug;41(8):615-20. No abstract available.


Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome.

Wenstrup RJ, Florer JB, Cole WG, Willing MC, Birk DE.

J Cell Biochem. 2004 May 1;92(1):113-24.


Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy.

Wenstrup RJ, Bailey L, Grabowski GA, Moskovitz J, Oestreich AE, Wu W, Sun S.

Blood. 2004 Sep 1;104(5):1253-7. Epub 2004 Mar 9.


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