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NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P. Dittwald P, et al. Among authors: cheung sw. Genome Res. 2013 Sep;23(9):1395-409. doi: 10.1101/gr.152454.112. Epub 2013 May 8. Genome Res. 2013. PMID: 23657883 Free PMC article.
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W. Dharmadhikari AV, et al. Among authors: cheung sw. Genome Med. 2019 May 17;11(1):30. doi: 10.1186/s13073-019-0639-5. Genome Med. 2019. PMID: 31101064 Free PMC article.
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Ou Z, Stankiewicz P, Xia Z, Breman AM, Dawson B, Wiszniewska J, Szafranski P, Cooper ML, Rao M, Shao L, South ST, Coleman K, Fernhoff PM, Deray MJ, Rosengren S, Roeder ER, Enciso VB, Chinault AC, Patel A, Kang SH, Shaw CA, Lupski JR, Cheung SW. Ou Z, et al. Among authors: cheung sw. Genome Res. 2011 Jan;21(1):33-46. doi: 10.1101/gr.111609.110. Genome Res. 2011. PMID: 21205869 Free PMC article.
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P. Szafranski P, et al. Among authors: cheung sw. Hum Mutat. 2010 Jul;31(7):840-50. doi: 10.1002/humu.21284. Hum Mutat. 2010. PMID: 20506139 Free PMC article.
Detection of clinically relevant exonic copy-number changes by array CGH.
Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. Boone PM, et al. Among authors: cheung sw. Hum Mutat. 2010 Dec;31(12):1326-42. doi: 10.1002/humu.21360. Epub 2010 Nov 2. Hum Mutat. 2010. PMID: 20848651 Free PMC article.
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL, Belmont JW. Lalani SR, et al. Among authors: cheung sw. Eur J Hum Genet. 2013 Feb;21(2):173-81. doi: 10.1038/ejhg.2012.155. Epub 2012 Aug 29. Eur J Hum Genet. 2013. PMID: 22929023 Free PMC article.
521 results