Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements von Liu, Pengfei, Erez, Ayelet, Nagamani, Sandesh C. Sreenath, Dhar, Shweta U., Kołodziejska, Katarzyna E., Dharmadhikari, Avinash V., Cooper, M. Lance, Wiszniewska, Joanna, Zhang, Feng, Withers, Marjorie A., Bacino, Carlos A., Campos-Acevedo, Luis Daniel, Delgado, Mauricio R., Freedenberg, Debra, Garnica, Adolfo, Grebe, Theresa A., Hernández-Almaguer, Dolores, Immken, LaDonna, Lalani, Seema R., McLean, Scott D., Northrup, Hope, Scaglia, Fernando, Strathearn, Lane, Trapane, Pamela, Kang, Sung-Hae L., Patel, Ankita, Cheung, Sau Wai, Hastings, P.J., Stankiewicz, Paweł, Lupski, James R., Bi, Weimin

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Identification of de novo copy number variants associated with human disorders of sexual development von Tannour-Louet, Mounia, Han, Shuo, Corbett, Sean T, Louet, Jean-Francois, Yatsenko, Svetlana, Meyers, Lindsay, Shaw, Chad A, Kang, Sung-Hae L, Cheung, Sau Wai, Lamb, Dolores J

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Inhibition of SIRT1 reactivates silenced cancer genes without loss of promoter DNA hypermethylation von Pruitt, Kevin, Zinn, Rebekah L, Ohm, Joyce E, McGarvey, Kelly M, Kang, Sung-Hae L, Watkins, D Neil, Herman, James G, Baylin, Stephen B

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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases von Van den Veyver, Ignatia B., Patel, Ankita, Shaw, Chad A., Pursley, Amber N., Kang, Sung-Hae L., Simovich, Marcia J., Ward, Patricia A., Darilek, Sandra, Johnson, Anthony, Neill, Sarah E., Bi, Weimin, White, Lisa D., Eng, Christine M., Lupski, James R., Cheung, Sau Wai, Beaudet, Arthur L.

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Utility of Oncotype DX Risk Assessment in Patients With Invasive Lobular Carcinoma von Tsai, Michaela L, Lillemoe, Tamera J, Finkelstein, Marsha J, Money, Joel E, Susnik, Barbara, Grimm, Erin, Kang, Sung-Hae L, Swenson, Karen K

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Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases von Pham, Justin, Shaw, Chad, Pursley, Amber, Hixson, Patricia, Sampath, Srirangan, Roney, Erin, Gambin, Tomasz, Kang, Sung-Hae L, Bi, Weimin, Lalani, Seema, Bacino, Carlos, Lupski, James R, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau-Wai

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Phenotypic manifestations of copy number variation in chromosome 16p13.11 von SREENATH NAGAMANI, Sandesh C, EREZ, Ayelet, MALPHRUS, Amy D, ENG, Patricia A, HIXSON, Patricia M, KANG, Sung-Hae L, STANKIEWICZ, Pawel, PATEL, Ankita, SAU WAI CHEUNG, BADER, Patricia, LALANI, Seema R, SCOTT, Daryl A, SCAGLIA, Fernando, PLON, Sharon E, TSAI, Chun-Hui, REIMSCHISEL, Tyler, ROEDER, Elizabeth

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Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results von Kang, Sung-Hae L., Shaw, Chad, Ou, Zhishuo, Eng, Patricia A., Cooper, M. Lance, Pursley, Amber N., Sahoo, Trilochan, Bacino, Carlos A., Chinault, A. Craig, Stankiewicz, Pawel, Patel, Ankita, Lupski, James R., Cheung, Sau Wai

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Human T cell generation is restored in CD3δ severe combined immunodeficiency through adenine base editing von McAuley, Grace E., Yiu, Gloria, Chang, Patrick C, Newby, Gregory A., Campo-Fernandez, Beatriz, Fitz-Gibbon, Sorel T., Wu, Xiaomeng, Kang, Sung-Hae L., Garibay, Amber, Butler, Jeffrey, Christian, Valentina, Wong, Ryan L., Everette, Kelcee A., Azzun, Anthony, Gelfer, Hila, Seet, Christopher S., Narendran, Aru, Murguia-Favela, Luis, Romero, Zulema, Wright, Nicola, Liu, David R., Crooks, Gay M., Kohn, Donald B.

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6q22.1 microdeletion and susceptibility to pediatric epilepsy von Szafranski, Przemyslaw, Von Allmen, Gretchen K, Graham, Brett H, Wilfong, Angus A, Kang, Sung-Hae L, Ferreira, Jose A, Upton, Sheila J, Moeschler, John B, Bi, Weimin, Rosenfeld, Jill A, Shaffer, Lisa G, Wai Cheung, Sau, Stankiewicz, Paweł, Lalani, Seema R

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High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy von Stewart, Larissa R, Hall, April L, Kang, Sung-Hae L, Shaw, Chad A, Beaudet, Arthur L

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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes von Ou, Zhishuo, Stankiewicz, Paweł, Xia, Zhilian, Breman, Amy M, Dawson, Brian, Wiszniewska, Joanna, Szafranski, Przemyslaw, Cooper, M Lance, Rao, Mitchell, Shao, Lina, South, Sarah T, Coleman, Karlene, Fernhoff, Paul M, Deray, Marcel J, Rosengren, Sally, Roeder, Elizabeth R, Enciso, Victoria B, Chinault, A Craig, Patel, Ankita, Kang, Sung-Hae L, Shaw, Chad A, Lupski, James R, Cheung, Sau W

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Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy von Campbell, Ian M, Rao, Mitchell, Arredondo, Sean D, Lalani, Seema R, Xia, Zhilian, Kang, Sung-Hae L, Bi, Weimin, Breman, Amy M, Smith, Janice L, Bacino, Carlos A, Beaudet, Arthur L, Patel, Ankita, Cheung, Sau Wai, Lupski, James R, Stankiewicz, Paweł, Ramocki, Melissa B, Shaw, Chad A

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USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder von Hao, Yi-Heng, Fountain, Michael D., Fon Tacer, Klementina, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Rosenfeld, Jill A., Le Caignec, Cédric, Isidor, Bertrand, Krantz, Ian D., Noon, Sarah E., Pfotenhauer, Jean P., Morgan, Thomas M., Moran, Rocio, Pedersen, Robert C., Saenz, Margarita S., Schaaf, Christian P., Potts, Patrick Ryan

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities von Patel, Ankita, Brunetti-Pierri, Nicola, Berg, Jonathan S, Scaglia, Fernando, Belmont, John, Bacino, Carlos A, Sahoo, Trilochan, Lalani, Seema R, Graham, Brett, Lee, Brendan, Shinawi, Marwan, Shen, Joseph, Kang, Sung-Hae L, Pursley, Amber, Lotze, Timothy, Kennedy, Gail, Lansky-Shafer, Susan, Weaver, Christine, Roeder, Elizabeth R, Grebe, Theresa A, Arnold, Georgianne L, Hutchison, Terry, Reimschisel, Tyler, Amato, Stephen, Geragthy, Michael T, Innis, Jeffrey W, Obersztyn, Ewa, Nowakowska, Beata, Rosengren, Sally S, Bader, Patricia I, Grange, Dorothy K, Naqvi, Sayed, Garnica, Adolfo D, Bernes, Saunder M, Fong, Chin-To, Summers, Anne, Walters, W David, Lupski, James R, Stankiewicz, Pawel, Cheung, Sau Wai

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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping von El-Hattab, Ayman W, Smolarek, Teresa A, Walker, Martha E, Schorry, Elizabeth K, Immken, LaDonna L, Patel, Gayle, Abbott, Mary-Alice, Lanpher, Brendan C, Ou, Zhishuo, Kang, Sung-Hae L, Patel, Ankita, Scaglia, Fernando, Lupski, James R, Cheung, Sau Wai, Stankiewicz, Pawel

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Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing von Wiszniewska, Joanna, Bi, Weimin, Shaw, Chad, Stankiewicz, Pawel, Kang, Sung-Hae L, Pursley, Amber N, Lalani, Seema, Hixson, Patricia, Gambin, Tomasz, Tsai, Chun-hui, Bock, Hans-Georg, Descartes, Maria, Probst, Frank J, Scaglia, Fernando, Beaudet, Arthur L, Lupski, James R, Eng, Christine, Cheung, Sau Wai, Bacino, Carlos, Patel, Ankita

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NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits von Dittwald, Piotr, Gambin, Tomasz, Szafranski, Przemyslaw, Li, Jian, Amato, Stephen, Divon, Michael Y, Rodríguez Rojas, Lisa Ximena, Elton, Lindsay E, Scott, Daryl A, Schaaf, Christian P, Torres-Martinez, Wilfredo, Stevens, Abby K, Rosenfeld, Jill A, Agadi, Satish, Francis, David, Kang, Sung-Hae L, Breman, Amy, Lalani, Seema R, Bacino, Carlos A, Bi, Weimin, Milosavljevic, Aleksandar, Beaudet, Arthur L, Patel, Ankita, Shaw, Chad A, Lupski, James R, Gambin, Anna, Cheung, Sau Wai, Stankiewicz, Pawel

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HERV‐mediated genomic rearrangement of EYA1 in an individual with branchio‐oto‐renal syndrome von Sanchez‐Valle, Amarilis, Wang, Xueqing, Potocki, Lorraine, Xia, Zhilian, Kang, Sung‐Hae L., Carlin, Mary E., Michel, Donnice, Williams, Patricia, Cabrera‐Meza, Gerardo, Brundage, Ellen K., Eifert, Anna L., Stankiewicz, Pawel, Cheung, Sau Wai, Lalani, Seema R.

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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 von SANDESH CHAKRAVARTHY SREENATH NAGAMANI, EREZ, Ayelet, LALANI, Seema R, STANKIEWICZ, Pawel, SUTTON, V. Reid, SAU WAI CHEUNG, SHEN, Joseph, CHUMEI LI, ROEDER, Elizabeth, COX, Sarah, KARAVITI, Lefkothea, PEARSON, Margret, KANG, Sung-Hae L, SAHOO, Trilochan

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