NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation von Gennarino, Vincenzo A, Alcott, Callison E, Chen, Chun-An, Chaudhury, Arindam, Gillentine, Madelyn A, Rosenfeld, Jill A, Parikh, Sumit, Wheless, James W, Roeder, Elizabeth R, Horovitz, Dafne D G, Roney, Erin K, Smith, Janice L, Cheung, Sau W, Li, Wei, Neilson, Joel R, Schaaf, Christian P, Zoghbi, Huda Y

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CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree von Soler-Alfonso, Claudia, Carvalho, Claudia M B, Ge, Jun, Roney, Erin K, Bader, Patricia I, Kolodziejska, Katarzyna E, Miller, Rachel M, Lupski, James R, Stankiewicz, Pawel, Cheung, Sau Wai, Bi, Weimin, Schaaf, Christian P

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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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Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome von Yatsenko, Svetlana A., Brundage, Ellen K., Roney, Erin K., Cheung, Sau Wai, Chinault, A. Craig, Lupski, James R.

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Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization von Yatsenko, Svetlana A., Hixson, Patricia, Roney, Erin K., Scott, Daryl A., Schaaf, Christian P., Ng, Yu-tze, Palmer, Robbin, Fisher, Richard B., Patel, Ankita, Cheung, Sau Wai, Lupski, James R.

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A mosaic 2q24.2 deletion narrows the critical region to a 0.4Mb interval that includes TBR1, TANK, and PSMD14 von Burrage, Lindsay C, Eble, Tanya N, Hixson, Patricia M, Roney, Erin K, Cheung, Sau W, Franco, Luis M

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Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events von Bi, Weimin, Probst, Frank J, Wiszniewska, Joanna, Plunkett, Katie, Roney, Erin K, Carter, Brian S, Williams, Misti D, Stankiewicz, Pawel, Patel, Ankita, Stevens, Cathy A, Lupski, James R, Cheung, Sau Wai

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Homozygous inv(11)(q21q23) and MLL gene rearrangement in two patients with myeloid neoplasms von Tang, Guilin, Lu, Xinyan, Wang, Sa A, Roney, Erin K, Zhang, Liping, Hu, Shimin, Lu, Gary, Medeiros, L Jeffrey, Patel, Ankita

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A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14 von Burrage, Lindsay C., Eble, Tanya N., Hixson, Patricia M., Roney, Erin K., Cheung, Sau W., Franco, Luis M.

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Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25 von Ricks, Christian B., Masand, Ruchi, Fang, Ping, Roney, Erin K., Cheung, Sau Wai, Scott, Daryl A.

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Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q von Breman, Amy M., Probst, Frank J., Blazo, Maria A., Schaaf, Christian P., Roney, Erin K., Craigen, William J., Bacino, Carlos A., Cheung, Sau Wai

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Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication von Liu, Pengfei, Gelowani, Violet, Zhang, Feng, Drory, Vivian E., Ben-Shachar, Shay, Roney, Erin, Medeiros, Adam C., Moore, Rebecca J., DiVincenzo, Christina, Burnette, William B., Higgins, Joseph J., Li, Jun, Orr-Urtreger, Avi, Lupski, James R.

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A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14 von Burrage, Lindsay C., Eble, Tanya N., Hixson, Patricia M., Roney, Erin K., Cheung, Sau W., Franco, Luis M.

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Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25 von Ricks, Christian B., Masand, Ruchi, Fang, Ping, Roney, Erin K., Cheung, Sau Wai, Scott, Daryl A.

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Plexin-B2 and Plexin-D1 in dendritic cells: expression and IL-12/IL-23p40 production von Holl, Eda K, Roney, Kelly E, Allen, Irving C, Steinbach, Erin, Arthur, Janelle C, Buntzman, Adam, Plevy, Scott, Frelinger, Jeffrey, Ting, Jenny P-Y

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Emissions and energy impacts of the Inflation Reduction Act von Bistline, John, Blanford, Geoffrey, Brown, Maxwell, Burtraw, Dallas, Domeshek, Maya, Farbes, Jamil, Fawcett, Allen, Hamilton, Anne, Jenkins, Jesse, Jones, Ryan, King, Ben, Kolus, Hannah, Larsen, John, Levin, Amanda, Mahajan, Megan, Marcy, Cara, Mayfield, Erin, McFarland, James, McJeon, Haewon, Orvis, Robbie, Patankar, Neha, Rennert, Kevin, Roney, Christopher, Roy, Nicholas, Schivley, Greg, Steinberg, Daniel, Victor, Nadejda, Wenzel, Shelley, Weyant, John, Wiser, Ryan, Yuan, Mei, Zhao, Alicia

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Power sector impacts of the Inflation Reduction Act of 2022 von Bistline, John E T, Brown, Maxwell, Domeshek, Maya, Marcy, Cara, Roy, Nicholas, Blanford, Geoffrey, Burtraw, Dallas, Farbes, Jamil, Fawcett, Allen, Hamilton, Anne, Jenkins, Jesse, Jones, Ryan, King, Ben, Kolus, Hannah, Larsen, John, Levin, Amanda, Mahajan, Megan, Mayfield, Erin, McFarland, James, McJeon, Haewon, Orvis, Robbie, Patankar, Neha, Rennert, Kevin, Robson, Sally, Roney, Christopher, Russell, Ethan, Schivley, Greg, Shawhan, Daniel, Steinberg, Daniel, Victor, Nadejda, Wenzel, Shelley, Weyant, John, Wiser, Ryan, Yuan, Mei, Zhao, Alicia

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Should adding pain, oxygen saturation and physical assessment to vital signs become the new standard of care for detecting blood transfusion reactions? von Roney, Jamie Kay, Whitley, Barbara Erin, Johnston, Lauren, Deleon, Michella, Robnett, Judith Christine

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Trial of Vancomycin and Cefazolin as Surgical Prophylaxis in Arthroplasty von Peel, Trisha N., Astbury, Sarah, Cheng, Allen C., Paterson, David L., Buising, Kirsty L., Spelman, Tim, Tran-Duy, An, Adie, Sam, Boyce, Glenn, McDougall, Catherine, Molnar, Robert, Mulford, Jonathan, Rehfisch, Peter, Solomon, Michael, Crawford, Ross, Harris-Brown, Tiffany, Roney, Janine, Wisniewski, Jessica, de Steiger, Richard

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Modified early warning scoring (MEWS): evaluating the evidence for tool inclusion of sepsis screening criteria and impact on mortality and failure to rescue von Roney, Jamie K., Whitley, Barbara Erin, Maples, Jessica C., Futrell, Lexie Scarborough, Stunkard, Kimberley A., Long, JoAnn D.

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