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Items: 1 to 50 of 628

1.

Genetic Characterization and Prognostic Relevance of Acquired Uniparental Disomies in Cytogenetically Normal Acute Myeloid Leukemia.

Walker CJ, Kohlschmidt J, Eisfeld AK, Mrózek K, Liyanarachchi S, Song C, Nicolet D, Blachly JS, Bill M, Papaioannou D, Oakes CC, Giacopelli B, Genutis LK, Maharry SE, Orwick S, Archer KJ, Powell BL, Kolitz JE, Uy GL, Wang ES, Carroll AJ, Stone RM, Byrd JC, de la Chapelle A, Bloomfield CD.

Clin Cancer Res. 2019 Aug 2. doi: 10.1158/1078-0432.CCR-19-0725. [Epub ahead of print]

PMID:
31375516
2.

Methylated SEPTIN9 plasma test for colorectal cancer detection may be applicable to Lynch syndrome.

Hitchins MP, Vogelaar IP, Brennan K, Haraldsdottir S, Zhou N, Martin B, Alvarez R, Yuan X, Kim S, Guindi M, Hendifar AE, Kalady MF, DeVecchio J, Church JM, de la Chapelle A, Hampel H, Pearlman R, Christensen M, Snyder C, Lanspa SJ, Haile RW, Lynch HT.

BMJ Open Gastroenterol. 2019 May 28;6(1):e000299. doi: 10.1136/bmjgast-2019-000299. eCollection 2019.

3.

Neuroblastoma RAS viral oncogene homolog mRNA is differentially spliced to give five distinct isoforms: implications for melanoma therapy.

Duggan MC, Regan-Fendt K, Olaverria Salavaggione GN, Howard JH, Stiff AR, Sabella J, Latchana N, Markowitz J, Gru A, Tridandapani S, Eisfeld AK, de la Chapelle A, Carson WE.

Melanoma Res. 2019 Oct;29(5):491-500. doi: 10.1097/CMR.0000000000000623.

PMID:
31116161
4.

Identification of Rare Variants Predisposing to Thyroid Cancer.

Wang Y, Liyanarachchi S, Miller KE, Nieminen TT, Comiskey DF Jr, Li W, Brock P, Symer DE, Akagi K, DeLap KE, He H, Koboldt DC, de la Chapelle A.

Thyroid. 2019 Jul;29(7):946-955. doi: 10.1089/thy.2018.0736. Epub 2019 May 13.

PMID:
30957677
5.

Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome.

Pearlman R, Haraldsdottir S, de la Chapelle A, Jonasson JG, Liyanarachchi S, Frankel WL, Rafnar T, Stefansson K, Pritchard CC, Hampel H.

J Med Genet. 2019 Jul;56(7):462-470. doi: 10.1136/jmedgenet-2018-105698. Epub 2019 Mar 15.

PMID:
30877237
6.

Microsatellite Instability Occurs in a Subset of Follicular Thyroid Cancers.

Genutis LK, Tomsic J, Bundschuh RA, Brock PL, Williams MD, Roychowdhury S, Reeser JW, Frankel WL, Alsomali M, Routbort MJ, Broaddus RR, Wakely PE Jr, Phay JE, Walker CJ, de la Chapelle A.

Thyroid. 2019 Apr;29(4):523-529. doi: 10.1089/thy.2018.0655. Epub 2019 Mar 27.

PMID:
30747051
7.

Implementation of standardized variant-calling nomenclature in the age of next-generation sequencing: where do we stand?

Eisfeld AK, Blachly JS, Mrózek K, Kohlschmidt J, Walker CJ, de la Chapelle A, Bloomfield CD.

Leukemia. 2019 Mar;33(3):809-810. doi: 10.1038/s41375-018-0372-x. Epub 2019 Jan 24. No abstract available.

PMID:
30679803
8.

Risk Haplotypes Uniquely Associated with Radioiodine-Refractory Thyroid Cancer Patients of High African Ancestry.

Hurst Z, Liyanarachchi S, He H, Brock P, Sipos J, Nabhan F, Kebebew E, Green P, Cote GJ, Sherman S, Walker CJ, Chang YS, Xue S, Hollingsworth B, Li W, Genutis L, Menq E, de la Chapelle A, Jhiang SM.

Thyroid. 2019 Apr;29(4):530-539. doi: 10.1089/thy.2018.0687. Epub 2019 Feb 13.

PMID:
30654714
9.

Discovery of common and rare genetic risk variants for colorectal cancer.

Huyghe JR, Bien SA, Harrison TA, Kang HM, Chen S, Schmit SL, Conti DV, Qu C, Jeon J, Edlund CK, Greenside P, Wainberg M, Schumacher FR, Smith JD, Levine DM, Nelson SC, Sinnott-Armstrong NA, Albanes D, Alonso MH, Anderson K, Arnau-Collell C, Arndt V, Bamia C, Banbury BL, Baron JA, Berndt SI, Bézieau S, Bishop DT, Boehm J, Boeing H, Brenner H, Brezina S, Buch S, Buchanan DD, Burnett-Hartman A, Butterbach K, Caan BJ, Campbell PT, Carlson CS, Castellví-Bel S, Chan AT, Chang-Claude J, Chanock SJ, Chirlaque MD, Cho SH, Connolly CM, Cross AJ, Cuk K, Curtis KR, de la Chapelle A, Doheny KF, Duggan D, Easton DF, Elias SG, Elliott F, English DR, Feskens EJM, Figueiredo JC, Fischer R, FitzGerald LM, Forman D, Gala M, Gallinger S, Gauderman WJ, Giles GG, Gillanders E, Gong J, Goodman PJ, Grady WM, Grove JS, Gsur A, Gunter MJ, Haile RW, Hampe J, Hampel H, Harlid S, Hayes RB, Hofer P, Hoffmeister M, Hopper JL, Hsu WL, Huang WY, Hudson TJ, Hunter DJ, Ibañez-Sanz G, Idos GE, Ingersoll R, Jackson RD, Jacobs EJ, Jenkins MA, Joshi AD, Joshu CE, Keku TO, Key TJ, Kim HR, Kobayashi E, Kolonel LN, Kooperberg C, Kühn T, Küry S, Kweon SS, Larsson SC, Laurie CA, Le Marchand L, Leal SM, Lee SC, Lejbkowicz F, Lemire M, Li CI, Li L, Lieb W, Lin Y, Lindblom A, Lindor NM, Ling H, Louie TL, Männistö S, Markowitz SD, Martín V, Masala G, McNeil CE, Melas M, Milne RL, Moreno L, Murphy N, Myte R, Naccarati A, Newcomb PA, Offit K, Ogino S, Onland-Moret NC, Pardini B, Parfrey PS, Pearlman R, Perduca V, Pharoah PDP, Pinchev M, Platz EA, Prentice RL, Pugh E, Raskin L, Rennert G, Rennert HS, Riboli E, Rodríguez-Barranco M, Romm J, Sakoda LC, Schafmayer C, Schoen RE, Seminara D, Shah M, Shelford T, Shin MH, Shulman K, Sieri S, Slattery ML, Southey MC, Stadler ZK, Stegmaier C, Su YR, Tangen CM, Thibodeau SN, Thomas DC, Thomas SS, Toland AE, Trichopoulou A, Ulrich CM, Van Den Berg DJ, van Duijnhoven FJB, Van Guelpen B, van Kranen H, Vijai J, Visvanathan K, Vodicka P, Vodickova L, Vymetalkova V, Weigl K, Weinstein SJ, White E, Win AK, Wolf CR, Wolk A, Woods MO, Wu AH, Zaidi SH, Zanke BW, Zhang Q, Zheng W, Scacheri PC, Potter JD, Bassik MC, Kundaje A, Casey G, Moreno V, Abecasis GR, Nickerson DA, Gruber SB, Hsu L, Peters U.

Nat Genet. 2019 Jan;51(1):76-87. doi: 10.1038/s41588-018-0286-6. Epub 2018 Dec 3.

10.

Fine mapping of 14q13 reveals novel variants associated with different histological subtypes of papillary thyroid carcinoma.

Jendrzejewski J, Liyanarachchi S, Eiterman A, Thomas A, He H, Nagy R, Senter L, Sworczak K, de la Chapelle A.

Int J Cancer. 2019 Feb 1;144(3):503-512. doi: 10.1002/ijc.31933. Epub 2018 Dec 3.

PMID:
30350351
11.

Factors associated with unfavorable outcome in a multicenter audit of 100 infective endocarditis.

Chirio D, Le Marechal M, Moceri P, de la Chapelle A, Chaillou-Optiz S, Mothes A, Foucault C, Maulin L, Parsaï C, Roger PM, Demonchy E.

Eur J Clin Microbiol Infect Dis. 2019 Jan;38(1):109-115. doi: 10.1007/s10096-018-3401-9. Epub 2018 Oct 15.

PMID:
30324540
12.

Genome-wide association study identifies an acute myeloid leukemia susceptibility locus near BICRA.

Walker CJ, Oakes CC, Genutis LK, Giacopelli B, Liyanarachchi S, Nicolet D, Eisfeld AK, Scholz M, Brock P, Kohlschmidt J, Mrózek K, Bill M, Carroll AJ, Kolitz JE, Powell BL, Wang ES, Niederwieser DW, Stone RM, Byrd JC, Schwind S, de la Chapelle A, Bloomfield CD.

Leukemia. 2019 Mar;33(3):771-775. doi: 10.1038/s41375-018-0281-z. Epub 2018 Oct 5. No abstract available.

13.

Cancer Risks for PMS2-Associated Lynch Syndrome.

Ten Broeke SW, van der Klift HM, Tops CMJ, Aretz S, Bernstein I, Buchanan DD, de la Chapelle A, Capella G, Clendenning M, Engel C, Gallinger S, Gomez Garcia E, Figueiredo JC, Haile R, Hampel HL, Hopper JL, Hoogerbrugge N, von Knebel Doeberitz M, Le Marchand L, Letteboer TGW, Jenkins MA, Lindblom A, Lindor NM, Mensenkamp AR, Møller P, Newcomb PA, van Os TAM, Pearlman R, Pineda M, Rahner N, Redeker EJW, Olderode-Berends MJW, Rosty C, Schackert HK, Scott R, Senter L, Spruijt L, Steinke-Lange V, Suerink M, Thibodeau S, Vos YJ, Wagner A, Winship I, Hes FJ, Vasen HFA, Wijnen JT, Nielsen M, Win AK.

J Clin Oncol. 2018 Oct 10;36(29):2961-2968. doi: 10.1200/JCO.2018.78.4777. Epub 2018 Aug 30. Erratum in: J Clin Oncol. 2019 Mar 20;37(9):761.

14.

NF1 mutations are recurrent in adult acute myeloid leukemia and confer poor outcome.

Eisfeld AK, Kohlschmidt J, Mrózek K, Mims A, Walker CJ, Blachly JS, Nicolet D, Orwick S, Maharry SE, Carroll AJ, Powell BL, Kolitz JE, Wang ES, Stone RM, de la Chapelle A, Byrd JC, Bloomfield CD.

Leukemia. 2018 Dec;32(12):2536-2545. doi: 10.1038/s41375-018-0147-4. Epub 2018 Jun 5.

15.

Identification of a Recurrent LMO7-BRAF Fusion in Papillary Thyroid Carcinoma.

He H, Li W, Yan P, Bundschuh R, Killian JA, Labanowska J, Brock P, Shen R, Heerema NA, de la Chapelle A.

Thyroid. 2018 Jun;28(6):748-754. doi: 10.1089/thy.2017.0258. Epub 2018 May 16.

16.

Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.

Hampel H, Pearlman R, Beightol M, Zhao W, Jones D, Frankel WL, Goodfellow PJ, Yilmaz A, Miller K, Bacher J, Jacobson A, Paskett E, Shields PG, Goldberg RM, de la Chapelle A, Shirts BH, Pritchard CC; Ohio Colorectal Cancer Prevention Initiative Study Group.

JAMA Oncol. 2018 Jun 1;4(6):806-813. doi: 10.1001/jamaoncol.2018.0104.

17.

Mutation patterns identify adult patients with de novo acute myeloid leukemia aged 60 years or older who respond favorably to standard chemotherapy: an analysis of Alliance studies.

Eisfeld AK, Kohlschmidt J, Mrózek K, Blachly JS, Walker CJ, Nicolet D, Orwick S, Maharry SE, Carroll AJ, Stone RM, de la Chapelle A, Wang ES, Kolitz JE, Powell BL, Byrd JC, Bloomfield CD.

Leukemia. 2018 Jun;32(6):1338-1348. doi: 10.1038/s41375-018-0068-2. Epub 2018 Feb 25.

18.

The role of SMAD3 in the genetic predisposition to papillary thyroid carcinoma.

Wang Y, He H, Liyanarachchi S, Genutis LK, Li W, Yu L, Phay JE, Shen R, Brock P, de la Chapelle A.

Genet Med. 2018 Sep;20(9):927-935. doi: 10.1038/gim.2017.224. Epub 2018 Jan 4.

19.

The early years of the ESHG leading to the reform of 1988 and the spirit of the Sestri Levante school.

Romeo G, Passarge E, de la Chapelle A.

Eur J Hum Genet. 2017 Dec;25(s2):S6-S12. doi: 10.1038/ejhg.2017.142. No abstract available.

20.

The Role of NRG1 in the Predisposition to Papillary Thyroid Carcinoma.

He H, Li W, Liyanarachchi S, Wang Y, Yu L, Genutis LK, Maharry S, Phay JE, Shen R, Brock P, de la Chapelle A.

J Clin Endocrinol Metab. 2018 Apr 1;103(4):1369-1379. doi: 10.1210/jc.2017-01798.

21.

Penetrance of a rare familial mutation predisposing to papillary thyroid cancer.

Saporito D, Brock P, Hampel H, Sipos J, Fernandez S, Liyanarachchi S, de la Chapelle A, Nagy R.

Fam Cancer. 2018 Jul;17(3):431-434. doi: 10.1007/s10689-017-0048-0.

22.

Identification of NRAS isoform 2 overexpression as a mechanism facilitating BRAF inhibitor resistance in malignant melanoma.

Duggan MC, Stiff AR, Bainazar M, Regan K, Olaverria Salavaggione GN, Maharry S, Blachly JS, Krischak M, Walker CJ, Latchana N, Tridandapani S, de la Chapelle A, Eisfeld AK, Carson WE 3rd.

Proc Natl Acad Sci U S A. 2017 Sep 5;114(36):9629-9634. doi: 10.1073/pnas.1704371114. Epub 2017 Aug 21.

23.

Mutation Frequencies in Patients With Early-Onset Colorectal Cancer-Reply.

Pearlman R, de la Chapelle A, Hampel H.

JAMA Oncol. 2017 Nov 1;3(11):1587. doi: 10.1001/jamaoncol.2017.1744. No abstract available.

PMID:
28687820
24.

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

Haraldsdottir S, Rafnar T, Frankel WL, Einarsdottir S, Sigurdsson A, Hampel H, Snaebjornsson P, Masson G, Weng D, Arngrimsson R, Kehr B, Yilmaz A, Haraldsson S, Sulem P, Stefansson T, Shields PG, Sigurdsson F, Bekaii-Saab T, Moller PH, Steinarsdottir M, Alexiusdottir K, Hitchins M, Pritchard CC, de la Chapelle A, Jonasson JG, Goldberg RM, Stefansson K.

Nat Commun. 2017 May 3;8:14755. doi: 10.1038/ncomms14755.

25.

No evidence for microsatellite instability in acute myeloid leukemia.

Walker CJ, Eisfeld AK, Genutis LK, Bainazar M, Kohlschmidt J, Mrózek K, Carroll AJ, Kolitz JE, Powell BL, Wang ES, Stone RM, Bundschuh R, de la Chapelle A, Bloomfield CD.

Leukemia. 2017 Jun;31(6):1474-1476. doi: 10.1038/leu.2017.97. Epub 2017 Mar 24. No abstract available.

26.

The mutational oncoprint of recurrent cytogenetic abnormalities in adult patients with de novo acute myeloid leukemia.

Eisfeld AK, Mrózek K, Kohlschmidt J, Nicolet D, Orwick S, Walker CJ, Kroll KW, Blachly JS, Carroll AJ, Kolitz JE, Powell BL, Wang ES, Stone RM, de la Chapelle A, Byrd JC, Bloomfield CD.

Leukemia. 2017 Oct;31(10):2211-2218. doi: 10.1038/leu.2017.86. Epub 2017 Mar 24.

27.

A genome-wide association study yields five novel thyroid cancer risk loci.

Gudmundsson J, Thorleifsson G, Sigurdsson JK, Stefansdottir L, Jonasson JG, Gudjonsson SA, Gudbjartsson DF, Masson G, Johannsdottir H, Halldorsson GH, Stacey SN, Helgason H, Sulem P, Senter L, He H, Liyanarachchi S, Ringel MD, Aguillo E, Panadero A, Prats E, Garcia-Castaño A, De Juan A, Rivera F, Xu L, Kiemeney LA, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Kristvinsson H, Netea-Maier RT, Jonsson T, Mayordomo JI, Plantinga TS, Hjartarson H, Hrafnkelsson J, Sturgis EM, Thorsteinsdottir U, Rafnar T, de la Chapelle A, Stefansson K.

Nat Commun. 2017 Feb 14;8:14517. doi: 10.1038/ncomms14517.

28.

MYH9 binds to lncRNA gene PTCSC2 and regulates FOXE1 in the 9q22 thyroid cancer risk locus.

Wang Y, He H, Li W, Phay J, Shen R, Yu L, Hancioglu B, de la Chapelle A.

Proc Natl Acad Sci U S A. 2017 Jan 17;114(3):474-479. doi: 10.1073/pnas.1619917114. Epub 2017 Jan 3.

29.

Variants in microRNA genes in familial papillary thyroid carcinoma.

Tomsic J, Fultz R, Liyanarachchi S, Genutis LK, Wang Y, Li W, Volinia S, Jazdzewski K, He H, Wakely PE Jr, Senter L, de la Chapelle A.

Oncotarget. 2017 Jan 24;8(4):6475-6482. doi: 10.18632/oncotarget.14129.

30.

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ, Goldberg RM, Paskett E, Shields PG, Freudenheim JL, Stanich PP, Lattimer I, Arnold M, Liyanarachchi S, Kalady M, Heald B, Greenwood C, Paquette I, Prues M, Draper DJ, Lindeman C, Kuebler JP, Reynolds K, Brell JM, Shaper AA, Mahesh S, Buie N, Weeman K, Shine K, Haut M, Edwards J, Bastola S, Wickham K, Khanduja KS, Zacks R, Pritchard CC, Shirts BH, Jacobson A, Allen B, de la Chapelle A, Hampel H; Ohio Colorectal Cancer Prevention Initiative Study Group.

JAMA Oncol. 2017 Apr 1;3(4):464-471. doi: 10.1001/jamaoncol.2016.5194.

31.

Mutations in the CCND1 and CCND2 genes are frequent events in adult patients with t(8;21)(q22;q22) acute myeloid leukemia.

Eisfeld AK, Kohlschmidt J, Schwind S, Nicolet D, Blachly JS, Orwick S, Shah C, Bainazar M, Kroll KW, Walker CJ, Carroll AJ, Powell BL, Stone RM, Kolitz JE, Baer MR, de la Chapelle A, Mrózek K, Byrd JC, Bloomfield CD.

Leukemia. 2017 Jun;31(6):1278-1285. doi: 10.1038/leu.2016.332. Epub 2016 Nov 15.

32.

Genome-Wide Expression Screening Discloses Long Noncoding RNAs Involved in Thyroid Carcinogenesis.

Liyanarachchi S, Li W, Yan P, Bundschuh R, Brock P, Senter L, Ringel MD, de la Chapelle A, He H.

J Clin Endocrinol Metab. 2016 Nov;101(11):4005-4013. Epub 2016 Jul 26.

33.

Adult acute myeloid leukemia with trisomy 11 as the sole abnormality is characterized by the presence of five distinct gene mutations: MLL-PTD, DNMT3A, U2AF1, FLT3-ITD and IDH2.

Eisfeld AK, Kohlschmidt J, Mrózek K, Blachly JS, Nicolet D, Kroll K, Orwick S, Carroll AJ, Stone RM, de la Chapelle A, Byrd JC, Bloomfield CD.

Leukemia. 2016 Nov;30(11):2254-2258. doi: 10.1038/leu.2016.196. Epub 2016 Jul 20. No abstract available.

34.

Mutational Landscape and Gene Expression Patterns in Adult Acute Myeloid Leukemias with Monosomy 7 as a Sole Abnormality.

Eisfeld AK, Kohlschmidt J, Mrózek K, Volinia S, Blachly JS, Nicolet D, Oakes C, Kroll K, Orwick S, Carroll AJ, Stone RM, Byrd JC, de la Chapelle A, Bloomfield CD.

Cancer Res. 2017 Jan 1;77(1):207-218. doi: 10.1158/0008-5472.CAN-16-1386. Epub 2016 Oct 26.

35.

Colon Cancer Germline Genetics: The Unbelievable Year 1993 and Thereafter.

de la Chapelle A.

Cancer Res. 2016 Jul 15;76(14):4025-7. doi: 10.1158/0008-5472.CAN-16-1637. No abstract available.

36.

The Olympic Games and Athletic Sex Assignment.

Genel M, Simpson JL, de la Chapelle A.

JAMA. 2016 Oct 4;316(13):1359-1360. doi: 10.1001/jama.2016.11850. No abstract available.

PMID:
27490137
37.

Dissection of the Major Hematopoietic Quantitative Trait Locus in Chromosome 6q23.3 Identifies miR-3662 as a Player in Hematopoiesis and Acute Myeloid Leukemia.

Maharry SE, Walker CJ, Liyanarachchi S, Mehta S, Patel M, Bainazar MA, Huang X, Lankenau MA, Hoag KW, Ranganathan P, Garzon R, Blachly JS, Guttridge DC, Bloomfield CD, de la Chapelle A, Eisfeld AK.

Cancer Discov. 2016 Sep;6(9):1036-51. doi: 10.1158/2159-8290.CD-16-0023. Epub 2016 Jun 27.

38.

Papillary Thyroid Carcinoma: Association Between Germline DNA Variant Markers and Clinical Parameters.

Jendrzejewski J, Liyanarachchi S, Nagy R, Senter L, Wakely PE, Thomas A, Nabhan F, He H, Li W, Sworczak K, Ringel MD, Kirschner LS, de la Chapelle A.

Thyroid. 2016 Sep;26(9):1276-84. doi: 10.1089/thy.2015.0665. Epub 2016 Jul 22.

39.

Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors With 2 or More Somatic Mutations in Mismatch Repair Genes.

Cohen SA, Turner EH, Beightol MB, Jacobson A, Gooley TA, Salipante SJ, Haraldsdottir S, Smith C, Scroggins S, Tait JF, Grady WM, Lin EH, Cohn DE, Goodfellow PJ, Arnold MW, de la Chapelle A, Pearlman R, Hampel H, Pritchard CC.

Gastroenterology. 2016 Sep;151(3):440-447.e1. doi: 10.1053/j.gastro.2016.06.004. Epub 2016 Jun 11.

40.

Primary Cell Culture Systems for Human Thyroid Studies.

Wang Y, Li W, Phay JE, Shen R, Pellegata NS, Saji M, Ringel MD, de la Chapelle A, He H.

Thyroid. 2016 Aug;26(8):1131-40. doi: 10.1089/thy.2015.0518. Epub 2016 Jul 6.

41.

Structural characterization of NRAS isoform 5.

Markowitz J, Mal TK, Yuan C, Courtney NB, Patel M, Stiff AR, Blachly J, Walker C, Eisfeld AK, de la Chapelle A, Carson WE 3rd.

Protein Sci. 2016 May;25(5):1069-74. doi: 10.1002/pro.2916. Epub 2016 Mar 24.

42.

Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses.

Haraldsdottir S, Hampel H, Wu C, Weng DY, Shields PG, Frankel WL, Pan X, de la Chapelle A, Goldberg RM, Bekaii-Saab T.

Genet Med. 2016 Sep;18(9):863-8. doi: 10.1038/gim.2015.184. Epub 2016 Feb 11.

43.

HABP2 G534E Variant in Papillary Thyroid Carcinoma.

Tomsic J, Fultz R, Liyanarachchi S, He H, Senter L, de la Chapelle A.

PLoS One. 2016 Jan 8;11(1):e0146315. doi: 10.1371/journal.pone.0146315. eCollection 2016.

44.

MicroRNA-3151 inactivates TP53 in BRAF-mutated human malignancies.

Lankenau MA, Patel R, Liyanarachchi S, Maharry SE, Hoag KW, Duggan M, Walker CJ, Markowitz J, Carson WE 3rd, Eisfeld AK, de la Chapelle A.

Proc Natl Acad Sci U S A. 2015 Dec 8;112(49):E6744-51. doi: 10.1073/pnas.1520390112. Epub 2015 Nov 18.

45.

HABP2 Mutation and Nonmedullary Thyroid Cancer.

Tomsic J, He H, de la Chapelle A.

N Engl J Med. 2015 Nov 19;373(21):2086. doi: 10.1056/NEJMc1511631. No abstract available.

PMID:
26581005
46.

PTCSC3 Is Involved in Papillary Thyroid Carcinoma Development by Modulating S100A4 Gene Expression.

Jendrzejewski J, Thomas A, Liyanarachchi S, Eiterman A, Tomsic J, He H, Radomska HS, Li W, Nagy R, Sworczak K, de la Chapelle A.

J Clin Endocrinol Metab. 2015 Oct;100(10):E1370-7. doi: 10.1210/jc.2015-2247. Epub 2015 Aug 14.

47.

A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition.

Tomsic J, He H, Akagi K, Liyanarachchi S, Pan Q, Bertani B, Nagy R, Symer DE, Blencowe BJ, de la Chapelle A.

Sci Rep. 2015 Jul 2;5:10566. doi: 10.1038/srep10566.

48.

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency.

Le DT, Uram JN, Wang H, Bartlett BR, Kemberling H, Eyring AD, Skora AD, Luber BS, Azad NS, Laheru D, Biedrzycki B, Donehower RC, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Duffy SM, Goldberg RM, de la Chapelle A, Koshiji M, Bhaijee F, Huebner T, Hruban RH, Wood LD, Cuka N, Pardoll DM, Papadopoulos N, Kinzler KW, Zhou S, Cornish TC, Taube JM, Anders RA, Eshleman JR, Vogelstein B, Diaz LA Jr.

N Engl J Med. 2015 Jun 25;372(26):2509-20. doi: 10.1056/NEJMoa1500596. Epub 2015 May 30.

49.

Multiple functional variants in long-range enhancer elements contribute to the risk of SNP rs965513 in thyroid cancer.

He H, Li W, Liyanarachchi S, Srinivas M, Wang Y, Akagi K, Wang Y, Wu D, Wang Q, Jin V, Symer DE, Shen R, Phay J, Nagy R, de la Chapelle A.

Proc Natl Acad Sci U S A. 2015 May 12;112(19):6128-33. doi: 10.1073/pnas.1506255112. Epub 2015 Apr 27.

50.

PMS2 monoallelic mutation carriers: the known unknown.

Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, Win AK, Senter L, Lipkin SM, Stadler ZK, Macrae FA, Lynch HT, Weitzel JN, de la Chapelle A, Syngal S, Lynch P, Parry S, Jenkins MA, Gallinger S, Holter S, Aronson M, Newcomb PA, Burnett T, Le Marchand L, Pichurin P, Hampel H, Terdiman JP, Lu KH, Thibodeau S, Lindor NM.

Genet Med. 2016 Jan;18(1):13-9. doi: 10.1038/gim.2015.27. Epub 2015 Apr 9. Review.

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