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Items: 1 to 50 of 192

1.

Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study.

Niu X, Amendola LM, Hart R, Bennette CS, Heagerty P, Horike-Pyne M, Trinidad SB, Rosenthal EA, Comstock B, Nefcy C, Hisama FM, Bennett RL, Grady WM, Gallego CJ, Tarczy-Hornoch P, Fullerton SM, Burke W, Regier DA, Dorschner MO, Shirts BH, Robertson PD, Nickerson DA, Patrick DL, Jarvik GP, Veenstra DL.

Contemp Clin Trials. 2019 Sep;84:105820. doi: 10.1016/j.cct.2019.105820. Epub 2019 Aug 7.

PMID:
31400517
2.

A Mutation in Histone H2B Represents a New Class of Oncogenic Driver.

Bennett RL, Bele A, Small EC, Will CM, Nabet B, Oyer JA, Huang X, Ghosh RP, Grzybowski AT, Yu T, Zhang Q, Riva A, Lele TP, Schatz GC, Kelleher NL, Ruthenburg AJ, Liphardt J, Licht JD.

Cancer Discov. 2019 Jul 23. doi: 10.1158/2159-8290.CD-19-0393. [Epub ahead of print]

PMID:
31337617
3.

Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests.

Amendola LM, Hart MR, Bennett RL, Horike-Pyne M, Dorschner M, Shirts B, Jarvik GP.

J Genet Couns. 2019 Jul 17. doi: 10.1002/jgc4.1155. [Epub ahead of print]

PMID:
31317629
4.

Defining the NSD2 interactome: PARP1 PARylation reduces NSD2 histone methyltransferase activity and impedes chromatin binding.

Huang X, LeDuc RD, Fornelli L, Schunter AJ, Bennett RL, Kelleher NL, Licht JD.

J Biol Chem. 2019 Aug 16;294(33):12459-12471. doi: 10.1074/jbc.RA118.006159. Epub 2019 Jun 27.

PMID:
31248990
5.

Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington.

Gay EA, Byers PH, Bennett RL, Bird TD, Hisama FM.

Genet Med. 2019 Jun;21(6):1457-1461. doi: 10.1038/s41436-018-0329-5. Epub 2018 Oct 16.

PMID:
30327540
6.

Rare loss of function variants in candidate genes and risk of colorectal cancer.

Rosenthal EA, Shirts BH, Amendola LM, Horike-Pyne M, Robertson PD, Hisama FM, Bennett RL, Dorschner MO, Nickerson DA, Stanaway IB, Nassir R, Vickers KT, Li C, Grady WM, Peters U, Jarvik GP; NHLBI GO Exome Sequencing Project.

Hum Genet. 2018 Oct;137(10):795-806. doi: 10.1007/s00439-018-1938-4. Epub 2018 Sep 28.

PMID:
30267214
7.

An activating mutation of the NSD2 histone methyltransferase drives oncogenic reprogramming in acute lymphocytic leukemia.

Swaroop A, Oyer JA, Will CM, Huang X, Yu W, Troche C, Bulic M, Durham BH, Wen QJ, Crispino JD, MacKerell AD Jr, Bennett RL, Kelleher NL, Licht JD.

Oncogene. 2019 Jan;38(5):671-686. doi: 10.1038/s41388-018-0474-y. Epub 2018 Aug 31.

8.

National Society of Genetic Counselors Code of Ethics: Explication of 2017 Revisions.

Senter L, Bennett RL, Madeo AC, Noblin S, Ormond KE, Schneider KW, Swan K, Virani A; National Society of Genetic Counselors Code of Ethics Review Task Force (COERTF).

J Genet Couns. 2018 Feb;27(1):9-15. doi: 10.1007/s10897-017-0165-9. Epub 2017 Oct 27.

PMID:
29075947
9.

Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study.

Hoskovec JM, Bennett RL, Carey ME, DaVanzo JE, Dougherty M, Hahn SE, LeRoy BS, O'Neal S, Richardson JG, Wicklund CA.

J Genet Couns. 2018 Feb;27(1):16-20. doi: 10.1007/s10897-017-0158-8. Epub 2017 Oct 20.

PMID:
29052810
10.

Targeting Epigenetics in Cancer.

Bennett RL, Licht JD.

Annu Rev Pharmacol Toxicol. 2018 Jan 6;58:187-207. doi: 10.1146/annurev-pharmtox-010716-105106. Epub 2017 Oct 6. Review.

11.

Medical genetics and genomics education: how do we define success? Where do we focus our resources?

Bennett RL, Waggoner D, Blitzer MG.

Genet Med. 2017 Jul;19(7):751-753. doi: 10.1038/gim.2017.77. Epub 2017 Jun 15. No abstract available.

PMID:
28617418
12.

The Role of Nuclear Receptor-Binding SET Domain Family Histone Lysine Methyltransferases in Cancer.

Bennett RL, Swaroop A, Troche C, Licht JD.

Cold Spring Harb Perspect Med. 2017 Jun 1;7(6). pii: a026708. doi: 10.1101/cshperspect.a026708. Review.

13.

Sabotaging of the oxidative stress response by an oncogenic noncoding RNA.

Mahajan N, Wu HJ, Bennett RL, Troche C, Licht JD, Weber JD, Maggi LB Jr, Tomasson MH.

FASEB J. 2017 Feb;31(2):482-490. doi: 10.1096/fj.201600654R. Epub 2016 Oct 24.

14.

Biochemical and imaging surveillance in Li-Fraumeni syndrome.

Raskind WH, Hisama FM, Bennett RL.

Lancet Oncol. 2016 Nov;17(11):e472. doi: 10.1016/S1470-2045(16)30530-7. No abstract available.

PMID:
27819239
15.

Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool.

Garrett LT, Hickman N, Jacobson A, Bennett RL, Amendola LM, Rosenthal EA, Shirts BH.

J Genet Couns. 2016 Dec;25(6):1146-1156. Epub 2016 Jul 16.

16.

Review of the national external quality assessment (EQA) scheme for breast pathology in the UK.

Rakha EA, Bennett RL, Coleman D, Pinder SE, Ellis IO; UK National Coordinating Committee for Breast Pathology (EQA Scheme Steering Committee).

J Clin Pathol. 2017 Jan;70(1):51-57. doi: 10.1136/jclinpath-2016-203800. Epub 2016 Jul 12.

PMID:
27406051
17.

Audit feedback on reading performance of screening mammograms: An international comparison.

Hofvind S, Bennett RL, Brisson J, Lee W, Pelletier E, Flugelman A, Geller B.

J Med Screen. 2016 Sep;23(3):150-9. doi: 10.1177/0969141315610790. Epub 2016 Feb 17.

PMID:
26892191
18.

Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.

Byers HM, Bennett RL, Malouf EA, Weiss MD, Feng J, Scott CR, Jayadev S.

JIMD Rep. 2016;30:109. Epub 2016 Feb 19. No abstract available.

19.

Improving performance of multigene panels for genomic analysis of cancer predisposition.

Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC.

Genet Med. 2016 Oct;18(10):974-81. doi: 10.1038/gim.2015.212. Epub 2016 Feb 4.

PMID:
26845104
20.

Developing a Model of Advanced Training to Promote Career Advancement for Certified Genetic Counselors: An Investigation of Expanded Skills, Advanced Training Paths, and Professional Opportunities.

Baty BJ, Trepanier A, Bennett RL, Davis C, Erby L, Hippman C, Lerner B, Matthews A, Myers MF, Robbins CB, Singletary CN.

J Genet Couns. 2016 Aug;25(4):625-34. doi: 10.1007/s10897-015-9916-7. Epub 2016 Jan 7.

PMID:
26739839
21.

Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome.

Gallego CJ, Perez ML, Burt A, Amendola LM, Shirts BH, Pritchard CC, Hisama FM, Bennett RL, Veenstra DL, Jarvik GP.

J Genet Couns. 2016 Jun;25(3):515-9. doi: 10.1007/s10897-015-9902-0. Epub 2015 Dec 5.

PMID:
26637299
22.

Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.

Byers HM, Bennett RL, Malouf EA, Weiss MD, Feng J, Scott CR, Jayadev S.

JIMD Rep. 2016;30:103-108. Epub 2015 Nov 21. Erratum in: JIMD Rep. 2016;30:109.

23.

Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice.

Cohen SA, Laurino M, Bowen DJ, Upton MP, Pritchard C, Hisama F, Jarvik G, Fichera A, Sjoding B, Bennett RL, Naylor L, Jacobson A, Burke W, Grady WM.

Cancer. 2016 Feb 1;122(3):393-401. doi: 10.1002/cncr.29758. Epub 2015 Oct 19.

24.

PKR inhibits the DNA damage response, and is associated with poor survival in AML and accelerated leukemia in NHD13 mice.

Cheng X, Byrne M, Brown KD, Konopleva MY, Kornblau SM, Bennett RL, May WS.

Blood. 2015 Sep 24;126(13):1585-94. doi: 10.1182/blood-2015-03-635227. Epub 2015 Jul 22.

25.

Cardiovascular safety of the glucagon-like peptide-1 receptor agonist taspoglutide in people with type 2 diabetes: an individual participant data meta-analysis of randomized controlled trials.

Seshasai SR, Bennett RL, Petrie JR, Bengus M, Ekman S, Dixon M, Herz M, Buse JB, Ray KK.

Diabetes Obes Metab. 2015 May;17(5):505-10. doi: 10.1111/dom.12448. Epub 2015 Mar 4. Review.

PMID:
25656522
26.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

27.

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee.

Genet Med. 2015 Jan;17(1):70-87. doi: 10.1038/gim.2014.147. Epub 2014 Nov 13.

PMID:
25394175
28.

Progressive genomic instability in the Nup98-HoxD13 model of MDS correlates with loss of the PIG-A gene product.

Byrne M, Bennett RL, Cheng X, May WS.

Neoplasia. 2014 Aug;16(8):627-33. doi: 10.1016/j.neo.2014.07.004.

29.

Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes.

Gallego CJ, Bennette CS, Heagerty P, Comstock B, Horike-Pyne M, Hisama F, Amendola LM, Bennett RL, Dorschner MO, Tarczy-Hornoch P, Grady WM, Fullerton SM, Trinidad SB, Regier DA, Nickerson DA, Burke W, Patrick DL, Jarvik GP, Veenstra DL.

Contemp Clin Trials. 2014 Sep;39(1):1-8. doi: 10.1016/j.cct.2014.06.016. Epub 2014 Jul 3.

30.

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP.

Am J Hum Genet. 2013 Oct 3;93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. Epub 2013 Sep 19.

31.

PKR negatively regulates leukemia progression in association with PP2A activation, Bcl-2 inhibition and increased apoptosis.

Cheng X, Bennett RL, Liu X, Byrne M, Stratford May W.

Blood Cancer J. 2013 Sep 6;3:e144. doi: 10.1038/bcj.2013.42.

32.

Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.

Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, O'Rourke E, Sims K, Walter G.

J Genet Couns. 2013 Oct;22(5):555-64. doi: 10.1007/s10897-013-9613-3. Epub 2013 Jul 17.

PMID:
23860966
33.

A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing.

Pritchard CC, Smith C, Marushchak T, Koehler K, Holmes H, Raskind W, Walsh T, Bennett RL.

Genet Med. 2013 Dec;15(12):1004-7. doi: 10.1038/gim.2013.51. Epub 2013 Apr 25.

PMID:
23619277
34.

PKR regulates proliferation, differentiation, and survival of murine hematopoietic stem/progenitor cells.

Liu X, Bennett RL, Cheng X, Byrne M, Reinhard MK, May WS Jr.

Blood. 2013 Apr 25;121(17):3364-74. doi: 10.1182/blood-2012-09-456400. Epub 2013 Feb 12.

35.

Increased left ventricular trabeculation in highly trained athletes: do we need more stringent criteria for the diagnosis of left ventricular non-compaction in athletes?

Gati S, Chandra N, Bennett RL, Reed M, Kervio G, Panoulas VF, Ghani S, Sheikh N, Zaidi A, Wilson M, Papadakis M, Carré F, Sharma S.

Heart. 2013 Mar;99(6):401-8. doi: 10.1136/heartjnl-2012-303418. Epub 2013 Feb 7. Erratum in: Heart. 2013 Apr;99(7):506. Wilson, Matthew [corrected to Wilson, Mathew].

PMID:
23393084
36.

Increased expression of the dsRNA-activated protein kinase PKR in breast cancer promotes sensitivity to doxorubicin.

Bennett RL, Carruthers AL, Hui T, Kerney KR, Liu X, May WS Jr.

PLoS One. 2012;7(9):e46040. doi: 10.1371/journal.pone.0046040. Epub 2012 Sep 24.

37.

The family medical history as a tool in preconception consultation.

Bennett RL.

J Community Genet. 2012 Jul;3(3):175-83. doi: 10.1007/s12687-012-0107-z. Epub 2012 Jul 19.

38.

Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.

Finucane B, Abrams L, Cronister A, Archibald AD, Bennett RL, McConkie-Rosell A.

J Genet Couns. 2012 Dec;21(6):752-60. doi: 10.1007/s10897-012-9524-8. Epub 2012 Jul 14. Erratum in: J Genet Couns. 2012 Dec;21(6):985.

PMID:
22797890
39.

Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome.

Tavakkol Z, Keller JJ, Furmanczyk PS, Bennett RL, Chien AJ.

J Clin Oncol. 2012 Aug 1;30(22):e195-8. doi: 10.1200/JCO.2011.41.5562. Epub 2012 Jun 25. No abstract available.

PMID:
22734033
40.

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

Pritchard CC, Smith C, Salipante SJ, Lee MK, Thornton AM, Nord AS, Gulden C, Kupfer SS, Swisher EM, Bennett RL, Novetsky AP, Jarvik GP, Olopade OI, Goodfellow PJ, King MC, Tait JF, Walsh T.

J Mol Diagn. 2012 Jul;14(4):357-66. doi: 10.1016/j.jmoldx.2012.03.002. Epub 2012 May 30.

41.

A self-administered family history questionnaire improves identification of women who warrant referral to genetic counseling for hereditary cancer risk.

Vogel TJ, Stoops K, Bennett RL, Miller M, Swisher EM.

Gynecol Oncol. 2012 Jun;125(3):693-8. doi: 10.1016/j.ygyno.2012.03.025. Epub 2012 Mar 21.

PMID:
22446623
42.

The RAX/PACT-PKR stress response pathway promotes p53 sumoylation and activation, leading to G₁ arrest.

Bennett RL, Pan Y, Christian J, Hui T, May WS Jr.

Cell Cycle. 2012 Jan 15;11(2):407-17. doi: 10.4161/cc.11.2.18999. Epub 2012 Jan 15.

43.

Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors.

Riley BD, Culver JO, Skrzynia C, Senter LA, Peters JA, Costalas JW, Callif-Daley F, Grumet SC, Hunt KS, Nagy RS, McKinnon WC, Petrucelli NM, Bennett RL, Trepanier AM.

J Genet Couns. 2012 Apr;21(2):151-61. doi: 10.1007/s10897-011-9462-x. Epub 2011 Dec 2.

PMID:
22134580
44.

An observational study to evaluate the performance of units using two radiographers to read screening mammograms.

Bennett RL, Sellars SJ, Blanks RG, Moss SM.

Clin Radiol. 2012 Feb;67(2):114-21. doi: 10.1016/j.crad.2011.06.015. Epub 2011 Nov 8.

PMID:
22070944
45.

Screening outcomes in women over age 70 who self-refer in the NHSBSP in England.

Bennett RL, Moss SM.

J Med Screen. 2011;18(2):91-5. doi: 10.1258/jms.2011.010134.

PMID:
21852702
46.

Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions.

Murray ML, Cerrato F, Bennett RL, Jarvik GP.

Genet Med. 2011 Dec;13(12):998-1005. doi: 10.1097/GIM.0b013e318226fc15.

PMID:
21811163
47.

Pathological and mammographic prognostic factors for screen detected cancers in a multi-centre randomised, controlled trial of mammographic screening in women from age 40 to 48 years.

Bennett RL, Evans AJ, Kutt E, Record C, Bobrow LG, Ellis IO, Hanby A, Moss SM.

Breast. 2011 Dec;20(6):525-8. doi: 10.1016/j.breast.2011.05.008. Epub 2011 Jun 21.

PMID:
21696957
48.

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.

Hamamy H, Antonarakis SE, Cavalli-Sforza LL, Temtamy S, Romeo G, Kate LP, Bennett RL, Shaw A, Megarbane A, van Duijn C, Bathija H, Fokstuen S, Engel E, Zlotogora J, Dermitzakis E, Bottani A, Dahoun S, Morris MA, Arsenault S, Aglan MS, Ajaz M, Alkalamchi A, Alnaqeb D, Alwasiyah MK, Anwer N, Awwad R, Bonnefin M, Corry P, Gwanmesia L, Karbani GA, Mostafavi M, Pippucci T, Ranza-Boscardin E, Reversade B, Sharif SM, Teeuw ME, Bittles AH.

Genet Med. 2011 Sep;13(9):841-7. doi: 10.1097/GIM.0b013e318217477f.

PMID:
21555946
49.

Interval cancers in the NHS breast cancer screening programme in England, Wales and Northern Ireland.

Bennett RL, Sellars SJ, Moss SM.

Br J Cancer. 2011 Feb 15;104(4):571-7. doi: 10.1038/bjc.2011.3. Epub 2011 Feb 1.

50.

Evaluation of extension of breast screening to women aged 65-70 in England using screening performance measures.

Bennett RL, Blanks RG, Moss SM.

Br J Cancer. 2009 Apr 7;100(7):1043-7. doi: 10.1038/sj.bjc.6604981. Epub 2009 Mar 10.

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