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Page 1
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
Luo X, Maciaszek JL, Thompson BA, Leong HS, Dixon K, Sousa S, Anderson M, Roberts ME, Lee K, Spurdle AB, Mensenkamp AR, Brannan T, Pardo C, Zhang L, Pesaran T, Wei S, Fasaye GA, Kesserwan C, Shirts BH, Davis JL, Oliveira C, Plon SE, Schrader KA, Karam R; ClinGen CDH1 Variant Curation Expert Panel. Luo X, et al. Among authors: schrader ka. J Med Genet. 2023 Jun;60(6):568-575. doi: 10.1136/jmg-2022-108807. Epub 2022 Dec 7. J Med Genet. 2023. PMID: 36600593 Free PMC article.
Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.
Schrader KA, Masciari S, Boyd N, Salamanca C, Senz J, Saunders DN, Yorida E, Maines-Bandiera S, Kaurah P, Tung N, Robson ME, Ryan PD, Olopade OI, Domchek SM, Ford J, Isaacs C, Brown P, Balmana J, Razzak AR, Miron P, Coffey K, Terry MB, John EM, Andrulis IL, Knight JA, O'Malley FP, Daly M, Bender P; kConFab; Moore R, Southey MC, Hopper JL, Garber JE, Huntsman DG. Schrader KA, et al. J Med Genet. 2011 Jan;48(1):64-8. doi: 10.1136/jmg.2010.079814. Epub 2010 Oct 4. J Med Genet. 2011. PMID: 20921021 Free PMC article.
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
Hansford S, Kaurah P, Li-Chang H, Woo M, Senz J, Pinheiro H, Schrader KA, Schaeffer DF, Shumansky K, Zogopoulos G, Santos TA, Claro I, Carvalho J, Nielsen C, Padilla S, Lum A, Talhouk A, Baker-Lange K, Richardson S, Lewis I, Lindor NM, Pennell E, MacMillan A, Fernandez B, Keller G, Lynch H, Shah SP, Guilford P, Gallinger S, Corso G, Roviello F, Caldas C, Oliveira C, Pharoah PD, Huntsman DG. Hansford S, et al. Among authors: schrader ka. JAMA Oncol. 2015 Apr;1(1):23-32. doi: 10.1001/jamaoncol.2014.168. JAMA Oncol. 2015. PMID: 26182300 Free article.
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Li J, Woods SL, Healey S, Beesley J, Chen X, Lee JS, Sivakumaran H, Wayte N, Nones K, Waterfall JJ, Pearson J, Patch AM, Senz J, Ferreira MA, Kaurah P, Mackenzie R, Heravi-Moussavi A, Hansford S, Lannagan TRM, Spurdle AB, Simpson PT, da Silva L, Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, Olschwang S, Faulkner GJ, Bellos E, Coin L, Rioux K, Bathe OF, Wen X, Martin HC, Neklason DW, Davis SR, Walker RL, Calzone KA, Avital I, Heller T, Koh C, Pineda M, Rudloff U, Quezado M, Pichurin PN, Hulick PJ, Weissman SM, Newlin A, Rubinstein WS, Sampson JE, Hamman K, Goldgar D, Poplawski N, Phillips K, Schofield L, Armstrong J, Kiraly-Borri C, Suthers GK, Huntsman DG, Foulkes WD, Carneiro F, Lindor NM, Edwards SL, French JD, Waddell N, Meltzer PS, Worthley DL, Schrader KA, Chenevix-Trench G. Li J, et al. Among authors: schrader ka. Am J Hum Genet. 2016 May 5;98(5):830-842. doi: 10.1016/j.ajhg.2016.03.001. Epub 2016 Apr 14. Am J Hum Genet. 2016. PMID: 27087319 Free PMC article.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R. Lee K, et al. Among authors: schrader ka. Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650. Hum Mutat. 2018. PMID: 30311375 Free PMC article.
Genetics of gastric cancer: what do we know about the genetic risks?
Slavin TP, Weitzel JN, Neuhausen SL, Schrader KA, Oliveira C, Karam R. Slavin TP, et al. Among authors: schrader ka. Transl Gastroenterol Hepatol. 2019 Jul 29;4:55. doi: 10.21037/tgh.2019.07.02. eCollection 2019. Transl Gastroenterol Hepatol. 2019. PMID: 31463414 Free PMC article. Review.
Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
Thibodeau ML, O'Neill K, Dixon K, Reisle C, Mungall KL, Krzywinski M, Shen Y, Lim HJ, Cheng D, Tse K, Wong T, Chuah E, Fok A, Sun S, Renouf D, Schaeffer DF, Cremin C, Chia S, Young S, Pandoh P, Pleasance S, Pleasance E, Mungall AJ, Moore R, Yip S, Karsan A, Laskin J, Marra MA, Schrader KA, Jones SJM. Thibodeau ML, et al. Among authors: schrader ka. Genet Med. 2020 Nov;22(11):1892-1897. doi: 10.1038/s41436-020-0880-8. Epub 2020 Jul 6. Genet Med. 2020. PMID: 32624572 Free PMC article.
Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing.
Dixon K, Shen Y, O'Neill K, Mungall KL, Chan S, Bilobram S, Zhang W, Bezeau M, Sharma A, Fok A, Mungall AJ, Moore R, Bosdet I, Thibodeau ML, Sun S, Yip S, Schrader KA, Jones SJM. Dixon K, et al. Among authors: schrader ka. Eur J Hum Genet. 2023 May;31(5):602-606. doi: 10.1038/s41431-023-01284-1. Epub 2023 Feb 16. Eur J Hum Genet. 2023. PMID: 36797466 Free PMC article.
108 results