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Year Number of Results
2008 1
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2010 1
2011 1
2012 2
2020 1
2022 1
2023 0
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7 results
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Page 1
Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.
Espinel W, Champine M, Hampel H, Jeter J, Sweet K, Pilarski R, Pearlman R, Shane K, Brock P, Westman JA, Kipnis L, Sotelo J, Chittenden A, Culver S, Stopfer JE, Schneider KA, Sacca R, Koeller DR, Gaonkar S, Vaccari E, Kane S, Michalski ST, Yang S, Nielsen SM, Bristow SL, Lincoln SE, Nussbaum RL, Esplin ED. Espinel W, et al. Among authors: shane k. Cancers (Basel). 2022 May 13;14(10):2426. doi: 10.3390/cancers14102426. Cancers (Basel). 2022. PMID: 35626031 Free PMC article.
Predictors of risk-reducing surgery intentions following genetic counseling for hereditary breast and ovarian cancer.
Ladd MK, Peshkin BN, Senter L, Baldinger S, Isaacs C, Segal H, Philip S, Phillips C, Shane K, Martin A, Weinstein V, Pilarski R, Jeter J, Sweet K, Hatten B, Wurtmann EJ, Phippen S, Bro D, Schwartz MD. Ladd MK, et al. Among authors: shane k. Transl Behav Med. 2020 May 20;10(2):337-346. doi: 10.1093/tbm/iby101. Transl Behav Med. 2020. PMID: 30418620 Free PMC article.
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR. Marshall CR, et al. Among authors: shane k. Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18565486 Free PMC article.
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Krone N, Reisch N, Idkowiak J, Dhir V, Ivison HE, Hughes BA, Rose IT, O'Neil DM, Vijzelaar R, Smith MJ, MacDonald F, Cole TR, Adolphs N, Barton JS, Blair EM, Braddock SR, Collins F, Cragun DL, Dattani MT, Day R, Dougan S, Feist M, Gottschalk ME, Gregory JW, Haim M, Harrison R, Olney AH, Hauffa BP, Hindmarsh PC, Hopkin RJ, Jira PE, Kempers M, Kerstens MN, Khalifa MM, Köhler B, Maiter D, Nielsen S, O'Riordan SM, Roth CL, Shane KP, Silink M, Stikkelbroeck NM, Sweeney E, Szarras-Czapnik M, Waterson JR, Williamson L, Hartmann MF, Taylor NF, Wudy SA, Malunowicz EM, Shackleton CH, Arlt W. Krone N, et al. Among authors: shane kp. J Clin Endocrinol Metab. 2012 Feb;97(2):E257-67. doi: 10.1210/jc.2011-0640. Epub 2011 Dec 7. J Clin Endocrinol Metab. 2012. PMID: 22162478 Free PMC article.
12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.
Alyaqoub F, Pyatt RE, Bailes A, Brock A, Deeg C, McKinney A, Astbury C, Reshmi S, Shane KP, Thrush DL, Sommer A, Gastier-Foster JM. Alyaqoub F, et al. Among authors: shane kp. Am J Med Genet A. 2012 Nov;158A(11):2925-30. doi: 10.1002/ajmg.a.35610. Epub 2012 Sep 14. Am J Med Genet A. 2012. PMID: 22987822
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, Theisen A, Geiger E, Haldeman-Englert C, Shaikh TH, Saitta S, Bejjani BA, Shaffer LG. Coppinger J, et al. Among authors: shane k. Hum Mol Genet. 2009 Apr 15;18(8):1377-83. doi: 10.1093/hmg/ddp042. Epub 2009 Feb 3. Hum Mol Genet. 2009. PMID: 19193630 Free PMC article.
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG. Ballif BC, et al. Among authors: shane k. Am J Hum Genet. 2010 Mar 12;86(3):454-61. doi: 10.1016/j.ajhg.2010.01.038. Epub 2010 Mar 4. Am J Hum Genet. 2010. PMID: 20206336 Free PMC article.