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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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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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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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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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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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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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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Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis von Lu, Xin-Yan, Phung, Mai T, Shaw, Chad A, Pham, Kim, Neil, Sarah E, Patel, Ankita, Sahoo, Trilochan, Bacino, Carlos A, Stankiewicz, Pawel, Kang, Sung-Hae Lee, Lalani, Seema, Chinault, A. Craig, Lupski, James R, Cheung, Sau W, 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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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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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 von Nagamani, Sandesh Chakravarthy Sreenath, Erez, Ayelet, Shen, Joseph, Li, Chumei, Roeder, Elizabeth, Cox, Sarah, Karaviti, Lefkothea, Pearson, Margret, Kang, Sung-Hae L, Sahoo, Trilochan, Lalani, Seema R, Stankiewicz, Pawel, Sutton, V Reid, Cheung, Sau Wai

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Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia von Wat, Margaret J., Shchelochkov, Oleg A., Holder, Ashley M., Breman, Amy M., Dagli, Aditi, Bacino, Carlos, Scaglia, Fernando, Zori, Roberto T., Cheung, Sau Wai, Scott, Daryl A., Kang, Sung-Hae Lee

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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological von Szafranski, Przemyslaw, Schaaf, Christian P, Person, Richard E, Gibson, Ian B, Xia, Zhilian, Mahadevan, Sangeetha, Wiszniewska, Joanna, Bacino, Carlos A, Lalani, Seema, Potocki, Lorraine, Kang, Sung-Hae, Patel, Ankita, Cheung, Sau Wai, Probst, Frank J, Graham, Brett H, Shinawi, Marwan, Beaudet, Arthur L, Stankiewicz, Pawel

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Phenotypic manifestations of copy number variation in chromosome 16p13.11 von Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bader, Patricia, Lalani, Seema R, Scott, Daryl A, Scaglia, Fernando, Plon, Sharon E, Tsai, Chun-Hui, Reimschisel, Tyler, Roeder, Elizabeth, Malphrus, Amy D, Eng, Patricia A, Hixson, Patricia M, Kang, Sung-Hae L, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau Wai

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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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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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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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