Spliced integrated retrotransposed element (SpIRE) formation in the human genome.

by Peter A Larson, John B Moldovan, Naveen Jasti, Jeffrey M Kidd, Christine R Beck, John V Moran
Published 2018-03-01

Inter-Strain Epigenomic Profiling Reveals a Candidate IAP Master Copy in C3H Mice

by Rita Rebollo, Mariana Galvão-Ferrarini, Liane Gagnier, Ying Zhang, Ardian Ferraj, Christine R. Beck, Matthew C. Lorincz, Dixie L. Mager
Published 2020-07-01

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

by Vahid Bahrambeigi, Xiaofei Song, Karen Sperle, Christine R. Beck, Hadia Hijazi, Christopher M. Grochowski, Shen Gu, Pavel Seeman, Karen J. Woodward, Claudia M. B. Carvalho, Grace M. Hobson, James R. Lupski
Published 2019-12-01

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

by Bo Yuan, Pengfei Liu, Aditya Gupta, Christine R Beck, Anusha Tejomurtula, Ian M Campbell, Tomasz Gambin, Alexandra D Simmons, Marjorie A Withers, R Alan Harris, Jeffrey Rogers, David C Schwartz, James R Lupski
Published 2015-12-01

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.

by Christine R Beck, Claudia M B Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, Bo Yuan, Karen Sperle, Suzanne M McCahan, Marco Henneke, Pavel Seeman, James Y Garbern, Grace M Hobson, James R Lupski
Published 2015-03-01

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

by Maria Nicla Loviglio, Christine R. Beck, Janson J. White, Marion Leleu, Tamar Harel, Nicolas Guex, Anne Niknejad, Weimin Bi, Edward S. Chen, Isaac Crespo, Jiong Yan, Wu-Lin Charng, Shen Gu, Ping Fang, Zeynep Coban-Akdemir, Chad A. Shaw, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Jacques Rougemont, Ioannis Xenarios, James R. Lupski, Alexandre Reymond
Published 2016-11-01