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Items: 1 to 20 of 111

1.

Exome-Wide Association Study of Pancreatic Cancer Risk.

Grant RC, Denroche RE, Borgida A, Virtanen C, Cook N, Smith AL, Connor AA, Wilson JM, Peterson G, Roberts NJ, Klein AP, Grimmond SM, Biankin A, Cleary S, Moore M, Lemire M, Zogopoulos G, Stein L, Gallinger S.

Gastroenterology. 2018 Feb;154(3):719-722.e3. doi: 10.1053/j.gastro.2017.10.015. Epub 2017 Oct 24.

2.

Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing.

Artomov M, Stratigos AJ, Kim I, Kumar R, Lauss M, Reddy BY, Miao B, Daniela Robles-Espinoza C, Sankar A, Njauw CN, Shannon K, Gragoudas ES, Marie Lane A, Iyer V, Newton-Bishop JA, Timothy Bishop D, Holland EA, Mann GJ, Singh T, Daly MJ, Tsao H.

J Natl Cancer Inst. 2017 Dec 1;109(12). doi: 10.1093/jnci/djx083.

3.

Exome Sequencing of Familial Bipolar Disorder.

Goes FS, Pirooznia M, Parla JS, Kramer M, Ghiban E, Mavruk S, Chen YC, Monson ET, Willour VL, Karchin R, Flickinger M, Locke AE, Levy SE, Scott LJ, Boehnke M, Stahl E, Moran JL, Hultman CM, Landén M, Purcell SM, Sklar P, Zandi PP, McCombie WR, Potash JB.

JAMA Psychiatry. 2016 Jun 1;73(6):590-7. doi: 10.1001/jamapsychiatry.2016.0251.

4.

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.

Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT Jr, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, Hsu L, Jackson RD, Jarvik GP, Kim DS, Lakshminarayan K, Lange LA, Manichaikul A, Quinlan AR, Singleton AB, Thornton TA, Nickerson DA, Peters U, Rich SS; National Heart, Lung, and Blood Institute Exome Sequencing Project.

JAMA Neurol. 2015 Jul;72(7):781-8. doi: 10.1001/jamaneurol.2015.0582.

5.

Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.

Zhang JX, Fu L, de Voer RM, Hahn MM, Jin P, Lv CX, Verwiel ET, Ligtenberg MJ, Hoogerbrugge N, Kuiper RP, Sheng JQ, Geurts van Kessel A.

World J Gastroenterol. 2015 Apr 14;21(14):4136-49. doi: 10.3748/wjg.v21.i14.4136.

6.

Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

Hu C, Hart SN, Polley EC, Gnanaolivu R, Shimelis H, Lee KY, Lilyquist J, Na J, Moore R, Antwi SO, Bamlet WR, Chaffee KG, DiCarlo J, Wu Z, Samara R, Kasi PM, McWilliams RR, Petersen GM, Couch FJ.

JAMA. 2018 Jun 19;319(23):2401-2409. doi: 10.1001/jama.2018.6228.

7.

The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes.

Slavin TP, Neuhausen SL, Nehoray B, Niell-Swiller M, Solomon I, Rybak C, Blazer K, Adamson A, Yang K, Sand S, Guerrero-Llamas N, Castillo D, Herzog J, Wu X, Tao S, Raja S, Chung V, Singh G, Nadesan S, Brown S, Cruz-Correa M, Petersen GM, Weitzel J; Clinical Cancer Genomics Community Research Network (CCGCRN).

Fam Cancer. 2018 Apr;17(2):235-245. doi: 10.1007/s10689-017-0019-5.

8.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium.

Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.

9.

Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.

Shahi RB, De Brakeleer S, Caljon B, Pauwels I, Bonduelle M, Joris S, Fontaine C, Vanhoeij M, Van Dooren S, Teugels E, De Grève J.

BMC Cancer. 2019 Apr 4;19(1):313. doi: 10.1186/s12885-019-5494-7.

10.

Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer.

Liu Y, Kheradmand F, Davis CF, Scheurer ME, Wheeler D, Tsavachidis S, Armstrong G, Simpson C, Mandal D, Kupert E, Anderson M, You M, Xiong D, Pikielny C, Schwartz AG, Bailey-Wilson J, Gaba C, De Andrade M, Yang P, Pinney SM; Genetic Epidemiology of Lung Cancer Consortium, Amos CI, Spitz MR.

J Thorac Oncol. 2016 Jan;11(1):52-61. doi: 10.1016/j.jtho.2015.09.015.

11.

Spontaneous preterm birth: advances toward the discovery of genetic predisposition.

Strauss JF 3rd, Romero R, Gomez-Lopez N, Haymond-Thornburg H, Modi BP, Teves ME, Pearson LN, York TP, Schenkein HA.

Am J Obstet Gynecol. 2018 Mar;218(3):294-314.e2. doi: 10.1016/j.ajog.2017.12.009. Epub 2017 Dec 14. Review.

12.

Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas.

Arora S, Yan H, Cho I, Fan HY, Luo B, Gai X, Bodian DL, Vockley JG, Zhou Y, Handorf EA, Egleston BL, Andrake MD, Nicolas E, Serebriiskii IG, Yen TJ, Hall MJ, Golemis EA, Enders GH.

Gastroenterology. 2015 Dec;149(7):1872-1883.e9. doi: 10.1053/j.gastro.2015.08.052. Epub 2015 Sep 5.

13.

Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.

Hamdi Y, Boujemaa M, Ben Rekaya M, Ben Hamda C, Mighri N, El Benna H, Mejri N, Labidi S, Daoud N, Naouali C, Messaoud O, Chargui M, Ghedira K, Boubaker MS, Mrad R, Boussen H, Abdelhak S; PEC Consortium.

J Transl Med. 2018 Jun 7;16(1):158. doi: 10.1186/s12967-018-1504-9.

14.

Identification of common variants in BRCA2 and MAP2K4 for susceptibility to sporadic pancreatic cancer.

Huang L, Wu C, Yu D, Wang C, Che X, Miao X, Zhai K, Chang J, Jiang G, Yang X, Cao G, Hu Z, Zhou Y, Zuo C, Wang C, Zhang X, Zhou Y, Yu X, Dai W, Li Z, Shen H, Liu L, Chen Y, Zhang S, Wang X, Liu Y, Sun M, Cao W, Gao J, Ma Y, Zheng X, Cheung ST, Jia Y, Tan W, Wu T, Lin D.

Carcinogenesis. 2013 May;34(5):1001-5. doi: 10.1093/carcin/bgt004. Epub 2013 Jan 8.

PMID:
23299404
15.

Statewide Retrospective Review of Familial Pancreatic Cancer in Delaware, and Frequency of Genetic Mutations in Pancreatic Cancer Kindreds.

Catts ZA, Baig MK, Milewski B, Keywan C, Guarino M, Petrelli N.

Ann Surg Oncol. 2016 May;23(5):1729-35. doi: 10.1245/s10434-015-5026-x. Epub 2016 Jan 4.

PMID:
26727920
16.

Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer.

Roberts NJ, Norris AL, Petersen GM, Bondy ML, Brand R, Gallinger S, Kurtz RC, Olson SH, Rustgi AK, Schwartz AG, Stoffel E, Syngal S, Zogopoulos G, Ali SZ, Axilbund J, Chaffee KG, Chen YC, Cote ML, Childs EJ, Douville C, Goes FS, Herman JM, Iacobuzio-Donahue C, Kramer M, Makohon-Moore A, McCombie RW, McMahon KW, Niknafs N, Parla J, Pirooznia M, Potash JB, Rhim AD, Smith AL, Wang Y, Wolfgang CL, Wood LD, Zandi PP, Goggins M, Karchin R, Eshleman JR, Papadopoulos N, Kinzler KW, Vogelstein B, Hruban RH, Klein AP.

Cancer Discov. 2016 Feb;6(2):166-75. doi: 10.1158/2159-8290.CD-15-0402. Epub 2015 Dec 9.

17.

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.

Li N, Rowley SM, Thompson ER, McInerny S, Devereux L, Amarasinghe KC, Zethoven M, Lupat R, Goode D, Li J, Trainer AH, Gorringe KL, James PA, Campbell IG.

Breast Cancer Res. 2018 Jan 9;20(1):3. doi: 10.1186/s13058-017-0929-z.

18.

Whole-exome sequencing of pancreatic neoplasms with acinar differentiation.

Jiao Y, Yonescu R, Offerhaus GJ, Klimstra DS, Maitra A, Eshleman JR, Herman JG, Poh W, Pelosof L, Wolfgang CL, Vogelstein B, Kinzler KW, Hruban RH, Papadopoulos N, Wood LD.

J Pathol. 2014 Mar;232(4):428-35. doi: 10.1002/path.4310.

19.

Monogenic and polygenic determinants of sarcoma risk: an international genetic study.

Ballinger ML, Goode DL, Ray-Coquard I, James PA, Mitchell G, Niedermayr E, Puri A, Schiffman JD, Dite GS, Cipponi A, Maki RG, Brohl AS, Myklebost O, Stratford EW, Lorenz S, Ahn SM, Ahn JH, Kim JE, Shanley S, Beshay V, Randall RL, Judson I, Seddon B, Campbell IG, Young MA, Sarin R, Blay JY, O'Donoghue SI, Thomas DM; International Sarcoma Kindred Study.

Lancet Oncol. 2016 Sep;17(9):1261-71. doi: 10.1016/S1470-2045(16)30147-4. Epub 2016 Aug 4.

PMID:
27498913
20.

Whole Exome Sequencing to Identify Genetic Variants Associated with Raised Atherosclerotic Lesions in Young Persons.

Hixson JE, Jun G, Shimmin LC, Wang Y, Yu G, Mao C, Warren AS, Howard TD, Heide RSV, Van Eyk J, Wang Y, Herrington DM.

Sci Rep. 2017 Jun 22;7(1):4091. doi: 10.1038/s41598-017-04433-x.

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