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Page 1
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.
Bruder CE, Piotrowski A, Gijsbers AA, Andersson R, Erickson S, Diaz de Ståhl T, Menzel U, Sandgren J, von Tell D, Poplawski A, Crowley M, Crasto C, Partridge EC, Tiwari H, Allison DB, Komorowski J, van Ommen GJ, Boomsma DI, Pedersen NL, den Dunnen JT, Wirdefeldt K, Dumanski JP. Bruder CE, et al. Among authors: partridge ec. Am J Hum Genet. 2008 Mar;82(3):763-71. doi: 10.1016/j.ajhg.2007.12.011. Epub 2008 Feb 14. Am J Hum Genet. 2008. PMID: 18304490 Free PMC article.
Somatic mosaicism for copy number variation in differentiated human tissues.
Piotrowski A, Bruder CE, Andersson R, Diaz de Ståhl T, Menzel U, Sandgren J, Poplawski A, von Tell D, Crasto C, Bogdan A, Bartoszewski R, Bebok Z, Krzyzanowski M, Jankowski Z, Partridge EC, Komorowski J, Dumanski JP. Piotrowski A, et al. Among authors: partridge ec. Hum Mutat. 2008 Sep;29(9):1118-24. doi: 10.1002/humu.20815. Hum Mutat. 2008. PMID: 18570184
Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression.
Popławski AB, Jankowski M, Erickson SW, Díaz de Ståhl T, Partridge EC, Crasto C, Guo J, Gibson J, Menzel U, Bruder CE, Kaczmarczyk A, Benetkiewicz M, Andersson R, Sandgren J, Zegarska B, Bała D, Srutek E, Allison DB, Piotrowski A, Zegarski W, Dumanski JP. Popławski AB, et al. Among authors: partridge ec. Eur J Hum Genet. 2010 May;18(5):560-8. doi: 10.1038/ejhg.2009.230. Epub 2010 Jan 6. Eur J Hum Genet. 2010. PMID: 20051991 Free PMC article.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: partridge ec. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.
Bowling KM, Thompson ML, Gray DE, Lawlor JMJ, Williams K, East KM, Kelley WV, Moss IP, Absher DM, Partridge EC, Hurst ACE, Edberg JC, Barsh GS, Korf BR, Cooper GM. Bowling KM, et al. Among authors: partridge ec. Genet Med. 2021 Feb;23(2):280-288. doi: 10.1038/s41436-020-00976-z. Epub 2020 Sep 29. Genet Med. 2021. PMID: 32989269 Free article.
Genomic regulation of invasion by STAT3 in triple negative breast cancer.
McDaniel JM, Varley KE, Gertz J, Savic DS, Roberts BS, Bailey SK, Shevde LA, Ramaker RC, Lasseigne BN, Kirby MK, Newberry KM, Partridge EC, Jones AL, Boone B, Levy SE, Oliver PG, Sexton KC, Grizzle WE, Forero A, Buchsbaum DJ, Cooper SJ, Myers RM. McDaniel JM, et al. Among authors: partridge ec. Oncotarget. 2017 Jan 31;8(5):8226-8238. doi: 10.18632/oncotarget.14153. Oncotarget. 2017. PMID: 28030809 Free PMC article.
Architecture of the human regulatory network derived from ENCODE data.
Gerstein MB, Kundaje A, Hariharan M, Landt SG, Yan KK, Cheng C, Mu XJ, Khurana E, Rozowsky J, Alexander R, Min R, Alves P, Abyzov A, Addleman N, Bhardwaj N, Boyle AP, Cayting P, Charos A, Chen DZ, Cheng Y, Clarke D, Eastman C, Euskirchen G, Frietze S, Fu Y, Gertz J, Grubert F, Harmanci A, Jain P, Kasowski M, Lacroute P, Leng JJ, Lian J, Monahan H, O'Geen H, Ouyang Z, Partridge EC, Patacsil D, Pauli F, Raha D, Ramirez L, Reddy TE, Reed B, Shi M, Slifer T, Wang J, Wu L, Yang X, Yip KY, Zilberman-Schapira G, Batzoglou S, Sidow A, Farnham PJ, Myers RM, Weissman SM, Snyder M. Gerstein MB, et al. Among authors: partridge ec. Nature. 2012 Sep 6;489(7414):91-100. doi: 10.1038/nature11245. Nature. 2012. PMID: 22955619 Free PMC article.
CETCh-seq: CRISPR epitope tagging ChIP-seq of DNA-binding proteins.
Savic D, Partridge EC, Newberry KM, Smith SB, Meadows SK, Roberts BS, Mackiewicz M, Mendenhall EM, Myers RM. Savic D, et al. Among authors: partridge ec. Genome Res. 2015 Oct;25(10):1581-9. doi: 10.1101/gr.193540.115. Epub 2015 Sep 9. Genome Res. 2015. PMID: 26355004 Free PMC article.
27 results