Triploidy Mosaicism (45,X/68,XX) in an Infant Presenting with Failure to Thrive

por Posey, Jennifer E., Mohrbacher, Nikki, Smith, Janice L., Patel, Ankita, Potocki, Lorraine, Breman, Amy M.
Publicado no Am J Med Genet A (2015)

Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT

por Zhuo, Xinming, Wang, Qun, Vossaert, Liesbeth, Salman, Roseen, Kim, Adriel, Van den Veyver, Ignatia, Breman, Amy, Beaudet, Arthur
Publicado no PLoS One (2021)

MECP2 duplications in six patients with complex sex chromosome rearrangements

por Breman, Amy M, Ramocki, Melissa B, Kang, Sung-Hae L, Williams, Misti, Freedenberg, Debra, Patel, Ankita, Bader, Patricia I, Cheung, Sau Wai
Publicado em 2011

MECP2 duplications in six patients with complex sex chromosome rearrangements

por Breman, Amy M, Ramocki, Melissa B, Kang, Sung-Hae L, Williams, Misti, Freedenberg, Debra, Patel, Ankita, Bader, Patricia I, Cheung, Sau Wai
Publicado em 2011

Identification of Complex Chromosome 18 Rearrangements by FISH and Array CGH in Two Patients With Apparent Isochromosome 18q

por Breman, Amy M., Probst, Frank J., Blazo, Maria A., Schaaf, Christian P., Roney, Erin K., Craigen, William J., Bacino, Carlos A., Cheung, Sau Wai
Publicado em 2011

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

por Song, Xiaofei, Beck, Christine R., Du, Renqian, Campbell, Ian M., Coban-Akdemir, Zeynep, Gu, Shen, Breman, Amy M., Stankiewicz, Pawel, Ira, Grzegorz, Shaw, Chad A., Lupski, James R.
Publicado no Genome Res (2018)

Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia

por 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
Publicado em 2009

Characterization of Chromosomal Abnormalities in Pregnancy Losses Reveals Critical Genes and Loci for Human Early Development

por Chen, Yiyun, Bartanus, Justin, Liang, Desheng, Zhu, Hongmin, Breman, Amy M, Smith, Janice L, Wang, Hua, Ren, Zhilin, Patel, Ankita, Stankiewicz, Pawel, Cram, David S, Cheung, Sau Wai, Wu, Lingqian, Yu, Fuli
Publicado no Hum Mutat (2017)

Interphase FISH Demonstrates that Human Adipose Stromal Cells Maintain a High Level of Genomic Stability in Long-Term Culture

por Grimes, Brenda R., Steiner, Camie M., Merfeld-Clauss, Stephanie, Traktuev, Dmitry O., Smith, Danielle, Reese, Angela, Breman, Amy M., Thurston, Virginia C., Vance, Gail H., Johnstone, Brian H., Slee, Roger B., March, Keith L.
Publicado em 2009

Parental somatic mosaicism for CNV deletions – a need for more sensitive and precise detection methods in clinical diagnostics settings

por Liu, Qian, Karolak, Justyna A., Grochowski, Christopher M., Wilson, Theresa A., Rosenfeld, Jill A., Bacino, Carlos A., Lalani, Seema R., Patel, Ankita, Breman, Amy, Smith, Janice L., Cheung, Sau Wai, Lupski, James R., Bi, Weimin, Stankiewicz, Pawel
Publicado no Genomics (2020)

SHANK3 overexpression causes manic-like behavior with unique pharmacogenetic properties

por Han, Kihoon, Holder, J. Lloyd, Schaaf, Christian P., Lu, Hui, Chen, Hongmei, Kang, Hyojin, Tang, Jianrong, Wu, Zhenyu, Hao, Shuang, Cheung, Sau Wai, Yu, Peng, Sun, Hao, Breman, Amy M., Patel, Ankita, Lu, Hui-Chen, Zoghbi, Huda Y.
Publicado em 2013

High-recovery visual identification and single-cell retrieval of circulating tumor cells for genomic analysis using a dual-technology platform integrated with automated immunofluor...

por Campton, Daniel E, Ramirez, Arturo B, Nordberg, Joshua J, Drovetto, Nick, Clein, Alisa C, Varshavskaya, Paulina, Friemel, Barry H, Quarre, Steve, Breman, Amy, Dorschner, Michael, Blau, Sibel, Blau, C Anthony, Sabath, Daniel E, Stilwell, Jackie L, Kaldjian, Eric P
Publicado no BMC Cancer (2015)

Reliable detection of subchromosomal deletions and duplications using cell‐based noninvasive prenatal testing

por Vossaert, Liesbeth, Wang, Qun, Salman, Roseen, Zhuo, Xinming, Qu, Chunjing, Henke, David, Seubert, Ron, Chow, Jennifer, U'ren, Lance, Enright, Brennan, Stilwell, Jackie, Kaldjian, Eric, Yang, Yaping, Shaw, Chad, Levy, Brynn, Wapner, Ronald, Breman, Amy, Van den Veyver, Ignatia, Beaudet, Arthur
Publicado no Prenat Diagn (2018)

Cytogenetically visible inversions are formed by multiple molecular mechanisms

por Pettersson, Maria, Grochowski, Christopher M., Wincent, Josephine, Eisfeldt, Jesper, Breman, Amy M., Cheung, Sau W., Krepischi, Ana C. V., Rosenberg, Carla, Lupski, James R., Ottosson, Jesper, Lovmar, Lovisa, Gacic, Jelena, Lundberg, Elisabeth S., Nilsson, Daniel, Carvalho, Claudia M. B., Lindstrand, Anna
Publicado no Hum Mutat (2020)

Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis

por Vossaert, Liesbeth, Wang, Qun, Salman, Roseen, McCombs, Anne K., Patel, Vipulkumar, Qu, Chunjing, Mancini, Michael A., Edwards, Dean P., Malovannaya, Anna, Liu, Pengfei, Shaw, Chad A., Levy, Brynn, Wapner, Ronald J., Bi, Weimin, Breman, Amy M., Van den Veyver, Ignatia B., Beaudet, Arthur L.
Publicado no Am J Hum Genet (2019)

Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy

por 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.
Publicado em 2013

Mechanisms for Complex Chromosomal Insertions

por 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.
Publicado no PLoS Genet (2016)

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

por 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.
Publicado em 2011

Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing

por Breman, Amy M., Chow, Jennifer C., U'Ren, Lance, Normand, Elizabeth A., Qdaisat, Sadeem, Zhao, Li, Henke, David M., Chen, Rui, Shaw, Chad A., Jackson, Laird, Yang, Yaping, Vossaert, Liesbeth, Needham, Rachel H. V., Chang, Elizabeth J., Campton, Daniel, Werbin, Jeffrey L., Seubert, Ron C., Van den Veyver, Ignatia B., Stilwell, Jackie L., Kaldjian, Eric P., Beaudet, Arthur L.
Publicado no Prenat Diagn (2016)

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome

por Yang, Nan, Wu, Nan, Dong, Shuangshuang, Zhang, Ling, Zhao, Yanxue, Chen, Weisheng, Du, Renqian, Song, Chengcheng, Ren, Xiaojun, Liu, Jiaqi, Pehlivan, Davut, Liu, Zhenlei, Jia, Rao, Wang, Chunyan, Zhao, Sen, Breman, Amy M., Xue, Huadan, Sun, Hao, Shen, Jianxiong, Zhang, Shuyang, Posey, Jennifer E., Xu, Hong, Jin, Li, Zhang, Jianguo, Liu, Pengfei, Sanna-Cherchi, Simone, Qiu, Guixing, Wu, Zhihong, Lupski, James R., Zhang, Feng
Publicado no Kidney Int (2020)