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Reanalysis of Clinical Exome Sequencing Data.
Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Liu P, et al. N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. N Engl J Med. 2019. PMID: 31216405 Free PMC article. No abstract available.
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR. Carvalho CM, et al. Among authors: liu p. Hum Mol Genet. 2009 Jun 15;18(12):2188-203. doi: 10.1093/hmg/ddp151. Epub 2009 Mar 26. Hum Mol Genet. 2009. PMID: 19324899 Free PMC article.
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Shinawi M, et al. Among authors: liu p. J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12. J Med Genet. 2010. PMID: 19914906 Free PMC article.
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR. Zhang F, et al. Among authors: liu p. Am J Hum Genet. 2010 Mar 12;86(3):462-70. doi: 10.1016/j.ajhg.2010.02.001. Epub 2010 Feb 25. Am J Hum Genet. 2010. PMID: 20188345 Free PMC article.
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Liu P, et al. Hum Mol Genet. 2011 May 15;20(10):1975-88. doi: 10.1093/hmg/ddr078. Epub 2011 Feb 25. Hum Mol Genet. 2011. PMID: 21355048 Free PMC article.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Liu P, Erez A, Nagamani SC, Dhar SU, Kołodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W. Liu P, et al. Cell. 2011 Sep 16;146(6):889-903. doi: 10.1016/j.cell.2011.07.042. Cell. 2011. PMID: 21925314 Free PMC article.
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