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Items: 1 to 50 of 71

1.

Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.

Li S, Qian D, Thompson BA, Gutierrez S, Wu S, Pesaran T, LaDuca H, Lu HM, Chao EC, Black M.

J Med Genet. 2019 Aug 7. pii: jmedgenet-2019-106096. doi: 10.1136/jmedgenet-2019-106096. [Epub ahead of print]

PMID:
31391288
2.

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.

Seifert BA, McGlaughon JL, Jackson SA, Ritter DI, Roberts ME, Schmidt RJ, Thompson BA, Jimenez S, Trapp M, Lee K, Plon SE, Offit K, Stadler ZK, Zhang L, Greenblatt MS, Ferber MJ.

Genet Med. 2019 Jul;21(7):1507-1516. doi: 10.1038/s41436-018-0373-1. Epub 2018 Dec 7.

3.

A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.

Drost M, Tiersma Y, Thompson BA, Frederiksen JH, Keijzers G, Glubb D, Kathe S, Osinga J, Westers H, Pappas L, Boucher KM, Molenkamp S, Zonneveld JB, van Asperen CJ, Goldgar DE, Wallace SS, Sijmons RH, Spurdle AB, Rasmussen LJ, Greenblatt MS, de Wind N, Tavtigian SV.

Genet Med. 2019 Jul;21(7):1486-1496. doi: 10.1038/s41436-018-0372-2. Epub 2018 Dec 3.

PMID:
30504929
4.

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.

Shamsani J, Kazakoff SH, Armean IM, McLaren W, Parsons MT, Thompson BA, O'Mara TA, Hunt SE, Waddell N, Spurdle AB.

Bioinformatics. 2019 Jul 1;35(13):2315-2317. doi: 10.1093/bioinformatics/bty960.

5.

Pancreatic cancer as a sentinel for hereditary cancer predisposition.

Young EL, Thompson BA, Neklason DW, Firpo MA, Werner T, Bell R, Berger J, Fraser A, Gammon A, Koptiuch C, Kohlmann WK, Neumayer L, Goldgar DE, Mulvihill SJ, Cannon-Albright LA, Tavtigian SV.

BMC Cancer. 2018 Jun 27;18(1):697. doi: 10.1186/s12885-018-4573-5.

6.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Kerr MP, Banne E, Meiner V, Lerman-Sagie T, Helbig KL, Kofman LH, Knight KM, Chen W, Kannan V, Hu C, Kusumoto H, Zhang J, Swanger SA, Shaulsky GH, Mirzaa GM, Muir AM, Mefford HC, Dobyns WB, Mackenzie AB, Mullins JGL, Lemke JR, Bahi-Buisson N, Traynelis SF, Iago HF, Pilz DT.

Brain. 2018 Mar 1;141(3):698-712. doi: 10.1093/brain/awx358.

7.

Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.

Li J, Li H, Makunin I; kConFab Investigators, Thompson BA, Tao K, Young EL, Lopez J, Camp NJ, Tavtigian SV, John EM, Andrulis IL, Khanna KK, Goldgar D, Chenevix-Trench G.

Breast Cancer Res Treat. 2017 Dec;166(3):937-949. doi: 10.1007/s10549-017-4469-0. Epub 2017 Aug 24.

8.

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

Vargas-Parra GM, González-Acosta M, Thompson BA, Gómez C, Fernández A, Dámaso E, Pons T, Morak M, Del Valle J, Iglesias S, Velasco À, Solanes A, Sanjuan X, Padilla N, de la Cruz X, Valencia A, Holinski-Feder E, Brunet J, Feliubadaló L, Lázaro C, Navarro M, Pineda M, Capellá G.

Int J Cancer. 2017 Oct 1;141(7):1365-1380. doi: 10.1002/ijc.30820. Epub 2017 Jul 3.

9.

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

González-Acosta M, Del Valle J, Navarro M, Thompson BA, Iglesias S, Sanjuan X, Paúles MJ, Padilla N, Fernández A, Cuesta R, Teulé À, Plotz G, Cadiñanos J, de la Cruz X, Balaguer F, Lázaro C, Pineda M, Capellá G.

Fam Cancer. 2017 Oct;16(4):501-507. doi: 10.1007/s10689-017-9981-1.

PMID:
28365877
10.

Perfluoroalkyl substances and fish consumption.

Christensen KY, Raymond M, Blackowicz M, Liu Y, Thompson BA, Anderson HA, Turyk M.

Environ Res. 2017 Apr;154:145-151. doi: 10.1016/j.envres.2016.12.032. Epub 2017 Jan 7.

PMID:
28073048
11.

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

Tricarico R, Kasela M, Mareni C, Thompson BA, Drouet A, Staderini L, Gorelli G, Crucianelli F, Ingrosso V, Kantelinen J, Papi L, De Angioletti M, Berardi M, Gaildrat P, Soukarieh O, Turchetti D, Martins A, Spurdle AB, Nyström M, Genuardi M; InSiGHT Variant Interpretation Committee.

Hum Mutat. 2017 Jan;38(1):64-77. doi: 10.1002/humu.23117. Epub 2016 Oct 17.

12.

Using a Human Challenge Model of Infection to Measure Vaccine Efficacy: A Randomised, Controlled Trial Comparing the Typhoid Vaccines M01ZH09 with Placebo and Ty21a.

Darton TC, Jones C, Blohmke CJ, Waddington CS, Zhou L, Peters A, Haworth K, Sie R, Green CA, Jeppesen CA, Moore M, Thompson BA, John T, Kingsley RA, Yu LM, Voysey M, Hindle Z, Lockhart S, Sztein MB, Dougan G, Angus B, Levine MM, Pollard AJ.

PLoS Negl Trop Dis. 2016 Aug 17;10(8):e0004926. doi: 10.1371/journal.pntd.0004926. eCollection 2016 Aug.

13.

Fish Consumption, Levels of Nutrients and Contaminants, and Endocrine-Related Health Outcomes Among Older Male Anglers in Wisconsin.

Christensen KY, Raymond MR, Thompson BA, Anderson HA.

J Occup Environ Med. 2016 Jul;58(7):668-75. doi: 10.1097/JOM.0000000000000758.

PMID:
27253230
14.

Associations Between Fish Consumption and Contaminant Biomarkers With Cardiovascular Conditions Among Older Male Anglers in Wisconsin.

Raymond MR, Christensen KY, Thompson BA, Anderson HA.

J Occup Environ Med. 2016 Jul;58(7):676-82. doi: 10.1097/JOM.0000000000000757.

PMID:
27253229
15.

The Effects of Mental Imagery with Video-Modeling on Self-Efficacy and Maximal Front Squat Ability.

Buck DJM, Hutchinson JC, Winter CR, Thompson BA.

Sports (Basel). 2016 Apr 14;4(2). pii: E23. doi: 10.3390/sports4020023.

16.

Perfluoroalkyl substances in older male anglers in Wisconsin.

Christensen KY, Raymond M, Thompson BA, Anderson HA.

Environ Int. 2016 May;91:312-8. doi: 10.1016/j.envint.2016.03.012. Epub 2016 Mar 19.

PMID:
27003842
17.

Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome.

Liu Q, Thompson BA, Ward RL, Hesson LB, Sloane MA.

Hum Mutat. 2016 May;37(5):417-26. doi: 10.1002/humu.22971. Epub 2016 Mar 18. Review.

PMID:
26888055
18.

Forced cell cycle exit and modulation of GABAA, CREB, and GSK3β signaling promote functional maturation of induced pluripotent stem cell-derived neurons.

Telezhkin V, Schnell C, Yarova P, Yung S, Cope E, Hughes A, Thompson BA, Sanders P, Geater C, Hancock JM, Joy S, Badder L, Connor-Robson N, Comella A, Straccia M, Bombau G, Brown JT, Canals JM, Randall AD, Allen ND, Kemp PJ.

Am J Physiol Cell Physiol. 2016 Apr 1;310(7):C520-41. doi: 10.1152/ajpcell.00166.2015. Epub 2015 Dec 30.

19.

Levels of persistent contaminants in relation to fish consumption among older male anglers in Wisconsin.

Christensen KY, Thompson BA, Werner M, Malecki K, Imm P, Anderson HA.

Int J Hyg Environ Health. 2016 Mar;219(2):184-94. doi: 10.1016/j.ijheh.2015.11.001. Epub 2015 Nov 10.

20.

Comprehension of Fish Consumption Guidelines Among Older Male Anglers in Wisconsin.

Christensen KY, Raymond MR, Thompson BA, Schrank CS, Williams MC, Anderson HA.

J Community Health. 2016 Feb;41(1):157-64. doi: 10.1007/s10900-015-0081-6.

PMID:
26306781
21.

Levels of nutrients in relation to fish consumption among older male anglers in Wisconsin.

Christensen KY, Thompson BA, Werner M, Malecki K, Imm P, Anderson HA.

Environ Res. 2015 Oct;142:542-8. doi: 10.1016/j.envres.2015.08.005.

22.

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.

van der Velde KJ, Kuiper J, Thompson BA, Plazzer JP, van Valkenhoef G, de Haan M, Jongbloed JD, Wijmenga C, de Koning TJ, Abbott KM, Sinke R, Spurdle AB, Macrae F, Genuardi M, Sijmons RH, Swertz MA; InSiGHT Group.

Hum Mutat. 2015 Jul;36(7):712-9. doi: 10.1002/humu.22798. Epub 2015 May 20.

23.

Microsatellite instability use in mismatch repair gene sequence variant classification.

Thompson BA, Spurdle AB.

Genes (Basel). 2015 Mar 30;6(2):150-62. doi: 10.3390/genes6020150.

24.

A cross-sectional observational study of pneumococcal carriage in children, their parents, and older adults following the introduction of the 7-valent pneumococcal conjugate vaccine.

Hamaluba M, Kandasamy R, Ndimah S, Morton R, Caccamo M, Robinson H, Kelly S, Field A, Norman L, Plested E, Thompson BA, Zafar A, Kerridge SA, Lazarus R, John T, Holmes J, Fenlon SN, Gould KA, Waight P, Hinds J, Crook D, Snape MD, Pollard AJ.

Medicine (Baltimore). 2015 Jan;94(1):e335. doi: 10.1097/MD.0000000000000335.

25.

Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients.

Sloane MA, Hesson LB, Nunez AC, Thompson BA, Ward RL.

Clin Epigenetics. 2014 Dec 13;6(1):32. doi: 10.1186/s13148-014-0032-6. eCollection 2014.

26.

Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.

Pineda M, González-Acosta M, Thompson BA, Sánchez R, Gómez C, Martínez-López J, Perea J, Caldés T, Rodríguez Y, Landolfi S, Balmaña J, Lázaro C, Robles L, Capellá G, Rueda D.

Clin Genet. 2015 Jun;87(6):543-8. doi: 10.1111/cge.12467. Epub 2014 Sep 16.

PMID:
25060679
27.

A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays.

Thompson BA, Martins A, Spurdle AB.

Clin Genet. 2015 Feb;87(2):100-8. doi: 10.1111/cge.12450. Epub 2014 Jul 26. Review.

PMID:
24989436
28.

Reply to J. Moline et al.

Buchanan DD, Tan YY, Walsh MD, Clendenning M, Metcalf AM, Ferguson K, Arnold ST, Thompson BA, Lose FA, Parsons MT, Walters RJ, Pearson SA, Cummings M, Oehler MK, Blomfield PB, Quinn MA, Kirk JA, Stewart CJ, Obermair A, Young JP, Webb PM, Spurdle AB.

J Clin Oncol. 2014 Jul 20;32(21):2278-9. doi: 10.1200/JCO.2014.55.8213. Epub 2014 Jun 9. No abstract available.

PMID:
24912891
29.

An outpatient, ambulant-design, controlled human infection model using escalating doses of Salmonella Typhi challenge delivered in sodium bicarbonate solution.

Waddington CS, Darton TC, Jones C, Haworth K, Peters A, John T, Thompson BA, Kerridge SA, Kingsley RA, Zhou L, Holt KE, Yu LM, Lockhart S, Farrar JJ, Sztein MB, Dougan G, Angus B, Levine MM, Pollard AJ.

Clin Infect Dis. 2014 May;58(9):1230-40. doi: 10.1093/cid/ciu078. Epub 2014 Feb 10.

30.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M.

Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22.

31.

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Buchanan DD, Tan YY, Walsh MD, Clendenning M, Metcalf AM, Ferguson K, Arnold ST, Thompson BA, Lose FA, Parsons MT, Walters RJ, Pearson SA, Cummings M, Oehler MK, Blomfield PB, Quinn MA, Kirk JA, Stewart CJ, Obermair A, Young JP, Webb PM, Spurdle AB.

J Clin Oncol. 2014 Jan 10;32(2):90-100. doi: 10.1200/JCO.2013.51.2129. Epub 2013 Dec 9.

32.

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.

Parsons MT, Whiley PJ, Beesley J, Drost M, de Wind N, Thompson BA, Marquart L, Hopper JL, Jenkins MA; Australasian Colorectal Cancer Family Registry, Brown MA, Tucker K, Warwick L, Buchanan DD, Spurdle AB.

Mol Carcinog. 2015 Jul;54(7):513-22. doi: 10.1002/mc.22116. Epub 2013 Dec 2.

33.

Comparison of muscle strength imbalance in powerlifters and jumpers.

Luk HY, Winter C, O'Neill E, Thompson BA.

J Strength Cond Res. 2014 Jan;28(1):23-7. doi: 10.1519/JSC.0b013e318295d311.

PMID:
23591945
34.

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA.

Clin Genet. 2014 Feb;85(2):138-46. doi: 10.1111/cge.12116. Epub 2013 Apr 2.

35.

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Thompson BA, Greenblatt MS, Vallee MP, Herkert JC, Tessereau C, Young EL, Adzhubey IA, Li B, Bell R, Feng B, Mooney SD, Radivojac P, Sunyaev SR, Frebourg T, Hofstra RM, Sijmons RH, Boucher K, Thomas A, Goldgar DE, Spurdle AB, Tavtigian SV.

Hum Mutat. 2013 Jan;34(1):255-65. doi: 10.1002/humu.22214. Epub 2012 Oct 22.

36.

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

Thompson BA, Goldgar DE, Paterson C, Clendenning M, Walters R, Arnold S, Parsons MT, Michael D W, Gallinger S, Haile RW, Hopper JL, Jenkins MA, Lemarchand L, Lindor NM, Newcomb PA, Thibodeau SN; Colon Cancer Family Registry, Young JP, Buchanan DD, Tavtigian SV, Spurdle AB.

Hum Mutat. 2013 Jan;34(1):200-9. doi: 10.1002/humu.22213. Epub 2012 Oct 11.

37.

Peripheral muscle weakness in RASopathies.

Stevenson DA, Allen S, Tidyman WE, Carey JC, Viskochil DH, Stevens A, Hanson H, Sheng X, Thompson BA, Okumura MJ, Reinker K, Johnson B, Rauen KA.

Muscle Nerve. 2012 Sep;46(3):394-9. doi: 10.1002/mus.23324.

PMID:
22907230
38.

T-cell responses in children to internal influenza antigens, 1 year after immunization with pandemic H1N1 influenza vaccine, and response to revaccination with seasonal trivalent-inactivated influenza vaccine.

Lambe T, Spencer AJ, Mullarkey CE, Antrobus RD, Yu LM, de Whalley P, Thompson BA, Jones C, Chalk J, Kerridge S, Hill AV, Snape MD, Pollard AJ, Gilbert SC.

Pediatr Infect Dis J. 2012 Jun;31(6):e86-91. doi: 10.1097/INF.0b013e318255e443.

PMID:
22466328
39.

A novel role for P2X7 receptor signalling in the survival of mouse embryonic stem cells.

Thompson BA, Storm MP, Hewinson J, Hogg S, Welham MJ, MacKenzie AB.

Cell Signal. 2012 Mar;24(3):770-8. doi: 10.1016/j.cellsig.2011.11.012. Epub 2011 Nov 18.

40.

RNAi-independent role for Argonaute2 in CTCF/CP190 chromatin insulator function.

Moshkovich N, Nisha P, Boyle PJ, Thompson BA, Dale RK, Lei EP.

Genes Dev. 2011 Aug 15;25(16):1686-701. doi: 10.1101/gad.16651211.

41.

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.

Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators, Tavtigian SV, Goldgar DE, Brown MA, Couch FJ, Spurdle AB.

Hum Mutat. 2011 Jun;32(6):678-87. doi: 10.1002/humu.21495. Epub 2011 Apr 12.

42.

Evidence of antibiotic resistance in free-swimming, top-level marine predatory fishes.

Blackburn JK, Mitchell MA, Blackburn MC, Curtis A, Thompson BA.

J Zoo Wildl Med. 2010 Mar;41(1):7-16.

PMID:
20722248
43.

Inhibitory effect of calcium on non-heme iron absorption may be related to translocation of DMT-1 at the apical membrane of enterocytes.

Thompson BA, Sharp PA, Elliott R, Fairweather-Tait SJ.

J Agric Food Chem. 2010 Jul 28;58(14):8414-7. doi: 10.1021/jf101388z.

PMID:
20597505
44.

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

Walker LC, Whiley PJ, Couch FJ, Farrugia DJ, Healey S, Eccles DM, Lin F, Butler SA, Goff SA, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators, Tavtigian SV, Goldgar DE, Brown MA, Spurdle AB.

Hum Mutat. 2010 Jun;31(6):E1484-505. doi: 10.1002/humu.21267.

45.

Effects of lifting tempo on one repetition maximum and hormonal responses to a bench press protocol.

Headley SA, Henry K, Nindl BC, Thompson BA, Kraemer WJ, Jones MT.

J Strength Cond Res. 2011 Feb;25(2):406-13. doi: 10.1519/JSC.0b013e3181bf053b.

PMID:
20351575
46.

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.

Walker LC, Thompson BA, Waddell N; kConFab Investigators, Grimmond SM, Spurdle AB.

PLoS Genet. 2010 Feb 19;6(2):e1000850. doi: 10.1371/journal.pgen.1000850.

47.

Regulation of HOXA2 gene expression by the ATP-dependent chromatin remodeling enzyme CHD8.

Yates JA, Menon T, Thompson BA, Bochar DA.

FEBS Lett. 2010 Feb 19;584(4):689-93. doi: 10.1016/j.febslet.2010.01.022. Epub 2010 Jan 17.

48.

CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.

Thompson BA, Tremblay V, Lin G, Bochar DA.

Mol Cell Biol. 2008 Jun;28(12):3894-904. doi: 10.1128/MCB.00322-08. Epub 2008 Mar 31.

49.

In situ lubricant degradation in Antarctic marine sediments. 1. Short-term changes.

Thompson BA, Davies NW, Goldsworthy PM, Riddle MJ, Snape I, Stark JS.

Environ Toxicol Chem. 2006 Feb;25(2):356-66.

PMID:
16519295
50.

Standard oxygen consumption of seasonally acclimatized cownose rays, Rhinoptera bonasus (Mitchill 1815), in the northern Gulf of Mexico.

Neer JA, Carlson JK, Thompson BA.

Fish Physiol Biochem. 2006 Mar;32(1):67-71. doi: 10.1007/s10695-006-7312-9.

PMID:
20035481

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