Mechanisms underlying structural variant formation in genomic disorders von Carvalho, Claudia M. B., Lupski, James R.

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Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements von Eisfeldt, Jesper, Pettersson, Maria, Vezzi, Francesco, Wincent, Josephine, Käller, Max, Gruselius, Joel, Nilsson, Daniel, Syk Lundberg, Elisabeth, Carvalho, Claudia M B, Lindstrand, Anna

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Mechanisms for recurrent and complex human genomic rearrangements von Liu, Pengfei, Carvalho, Claudia MB, Hastings, PJ, Lupski, James R

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Mechanisms for Complex Chromosomal Insertions von Gu, Shen, Szafranski, Przemyslaw, Akdemir, Zeynep Coban, Yuan, Bo, Cooper, Mitchell L, Magriñá, Maria A, Bacino, Carlos A, Lalani, Seema R, Breman, Amy M, Smith, Janice L, Patel, Ankita, Song, Rodger H, Bi, Weimin, Cheung, Sau Wai, Carvalho, Claudia M B, Stankiewicz, Paweł, Lupski, James R

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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome von Ramocki, Melissa B, Lupski, James R, Carvalho, Claudia M B, Pehlivan, Davut, Franco, Luis M, Gonzaga-Jauregui, Claudia, Fang, Ping, McCall, Alanna, Pivnick, Eniko Karman, Hines-Dowell, Stacy, Seaver, Laurie H, Friehling, Linda, Lee, Sansan, Smith, Rosemarie, del Gaudio, Daniela, Withers, Marjorie, Liu, Pengfei, Cheung, Sau Wai, Belmont, John W, Zoghbi, Huda Y, Hastings, P J

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain von Verdin, Hannah, D'haene, Barbara, Beysen, Diane, Novikova, Yana, Menten, Björn, Sante, Tom, Lapunzina, Pablo, Nevado, Julian, Carvalho, Claudia M B, Lupski, James R, De Baere, Elfride

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Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication von Beck, Christine R, Carvalho, Claudia M B, Banser, Linda, Gambin, Tomasz, Stubbolo, Danielle, Yuan, Bo, Sperle, Karen, McCahan, Suzanne M, Henneke, Marco, Seeman, Pavel, Garbern, James Y, Hobson, Grace M, Lupski, James R

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Detection of mosaic and population-level structural variants with Sniffles2 von Smolka, Moritz, Paulin, Luis F., Grochowski, Christopher M., Horner, Dominic W., Mahmoud, Medhat, Behera, Sairam, Kalef-Ezra, Ester, Gandhi, Mira, Hong, Karl, Pehlivan, Davut, Scholz, Sonja W., Carvalho, Claudia M. B., Proukakis, Christos, Sedlazeck, Fritz J.

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Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants von Bahrambeigi, Vahid, Song, Xiaofei, Sperle, Karen, Beck, Christine R, Hijazi, Hadia, Grochowski, Christopher M, Gu, Shen, Seeman, Pavel, Woodward, Karen J, Carvalho, Claudia M B, Hobson, Grace M, Lupski, James R

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Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype von Potocki, Lorraine, Bi, Weimin, Treadwell-Deering, Diane, Carvalho, Claudia M.B., Eifert, Anna, Friedman, Ellen M., Glaze, Daniel, Krull, Kevin, Lee, Jennifer A., Lewis, Richard Alan, Mendoza-Londono, Roberto, Robbins-Furman, Patricia, Shaw, Chad, Shi, Xin, Weissenberger, George, Withers, Marjorie, Yatsenko, Svetlana A., Zackai, Elaine H., Stankiewicz, Pawel, Lupski, James R.

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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation von Du, Haowei, Jolly, Angad, Grochowski, Christopher M, Yuan, Bo, Dawood, Moez, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Coban-Akdemir, Zeynep, Carlin, Mary Esther, Scheuerle, Angela E, Witzl, Karin, Posey, Jennifer E, Pendleton, Matthew, Harrington, Eoghan, Juul, Sissel, Hastings, P J, Bi, Weimin, Gibbs, Richard A, Sedlazeck, Fritz J, Lupski, James R, Carvalho, Claudia M B, Liu, Pengfei

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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching von Carvalho, Claudia M.B., Zhang, Feng, Liu, Pengfei, Patel, Ankita, Sahoo, Trilochan, Bacino, Carlos A., Shaw, Chad, Peacock, Sandra, Pursley, Amber, Tavyev, Y. Jane, Ramocki, Melissa B., Nawara, Magdalena, Obersztyn, Ewa, Vianna-Morgante, Angela M., Stankiewicz, Pawel, Zoghbi, Huda Y., Cheung, Sau Wai, Lupski, James R.

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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome von Carvalho, Claudia M B, Coban-Akdemir, Zeynep, Hijazi, Hadia, Yuan, Bo, Pendleton, Matthew, Harrington, Eoghan, Beaulaurier, John, Juul, Sissel, Turner, Daniel J, Kanchi, Rupa S, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Stankiewicz, Pawel, Belmont, John W, Shaw, Chad A, Cheung, Sau Wai, Hanchard, Neil A, Sutton, V Reid, Bader, Patricia I, Lupski, James R

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Complex human chromosomal and genomic rearrangements von Zhang, Feng, Carvalho, Claudia M.B, Lupski, James R

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Insights into genetics, human biology and disease gleaned from family based genomic studies von Posey, Jennifer E., O’Donnell-Luria, Anne H., Chong, Jessica X., Harel, Tamar, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Buyske, Steven, Pehlivan, Davut, Carvalho, Claudia M. B., Baxter, Samantha, Sobreira, Nara, Liu, Pengfei, Wu, Nan, Rosenfeld, Jill A., Kumar, Sushant, Avramopoulos, Dimitri, White, Janson J., Doheny, Kimberly F., Witmer, P. Dane, Boehm, Corinne, Sutton, V. Reid, Muzny, Donna M., Boerwinkle, Eric, Günel, Murat, Nickerson, Deborah A., Mane, Shrikant, MacArthur, Daniel G., Gibbs, Richard A., Hamosh, Ada, Lifton, Richard P., Matise, Tara C., Rehm, Heidi L., Gerstein, Mark, Bamshad, Michael J., Valle, David, Lupski, James R.

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Chimeric transcripts resulting from complex duplications in chromosome Xq28 von W. Zuccherato, Luciana, Alleva, Benjamin, Whiters, Marjorie A., Carvalho, Claudia M. B., Lupski, James R.

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Novel parent-of-origin-specific differentially methylated loci on chromosome 16 von Schulze, Katharina V, Szafranski, Przemyslaw, Lesmana, Harry, Hopkin, Robert J, Hamvas, Aaron, Wambach, Jennifer A, Shinawi, Marwan, Zapata, Gladys, Carvalho, Claudia M B, Liu, Qian, Karolak, Justyna A, Lupski, James R, Hanchard, Neil A, Stankiewicz, Paweł

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A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations von da Costa, Silvia Souza, Fishman, Veniamin, Pinheiro, Mara, Rodrigueiro, Andre, Sanseverino, Maria Teresa, Zielinsky, Paulo, Carvalho, Claudia M. B., Rosenberg, Carla, Krepischi, Ana Cristina Victorino

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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications von PENGFEI LIU, EREZ, Ayelet, REID SUTTON, V, ROEDER, Elizabeth R, BODENSTEINER, John B, DELGADO, Mauricio R, PRAKASH, Siddharth K, BELMONT, John W, STANKIEWICZ, Pawel, BERG, Jonathan S, SHINAWI, Marwan, PATEL, Ankita, SREENATH NAGAMANI, Sandesh C, WAI CHEUNG, Sau, LUPSKI, James R, WEIMIN BI, CARVALHO, Claudia M. B, SIMMONS, Alexandra D, WISZNIEWSKA, Joanna, PING FANG, ENG, Patricia A, LANCE COOPER, M

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Replicative mechanisms for CNV formation are error prone von Carvalho, Claudia M B, Pehlivan, Davut, Ramocki, Melissa B, Fang, Ping, Alleva, Benjamin, Franco, Luis M, Belmont, John W, Hastings, P J, Lupski, James R

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