Search Results - "Breman, Amy M"

Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women by Kølvraa, Steen, Singh, Ripudaman, Normand, Elizabeth A., Qdaisat, Sadeem, van den Veyver, Ignatia B., Jackson, Laird, Hatt, Lotte, Schelde, Palle, Uldbjerg, Niels, Vestergaard, Else Marie, Zhao, Li, Chen, Rui, Shaw, Chad A., Breman, Amy M., Beaudet, Arthur L.

“…Objective Non‐invasive prenatal testing (NIPT) based on fetal cells in maternal blood has the advantage over NIPT based on circulating cell‐free fetal DNA in…”
Get full text

Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing by 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.

“…Objective The goal was to develop methods for detection of chromosomal and subchromosomal abnormalities in fetal cells in the mother's circulation at 10–16…”
Get full text

Mechanisms for Complex Chromosomal Insertions by 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

“…Chromosomal insertions are genomic rearrangements with a chromosome segment inserted into a non-homologous chromosome or a non-adjacent locus on the same…”
Get full text

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases by Dharmadhikari, Avinash V, Ghosh, Rajarshi, Yuan, Bo, Liu, Pengfei, Dai, Hongzheng, Al Masri, Sami, Scull, Jennifer, Posey, Jennifer E, Jiang, Allen H, He, Weimin, Vetrini, Francesco, Braxton, Alicia A, Ward, Patricia, Chiang, Theodore, Qu, Chunjing, Gu, Shen, Shaw, Chad A, Smith, Janice L, Lalani, Seema, Stankiewicz, Pawel, Cheung, Sau-Wai, Bacino, Carlos A, Patel, Ankita, Breman, Amy M, Wang, Xia, Meng, Linyan, Xiao, Rui, Xia, Fan, Muzny, Donna, Gibbs, Richard A, Beaudet, Arthur L, Eng, Christine M, Lupski, James R, Yang, Yaping, Bi, Weimin

“…Exome sequencing (ES) has been successfully applied in clinical detection of single nucleotide variants (SNVs) and small indels. However, identification of…”
Get full text

Computational pharmacogenotype extraction from clinical next-generation sequencing by Shugg, Tyler, Ly, Reynold C, Osei, Wilberforce, Rowe, Elizabeth J, Granfield, Caitlin A, Lynnes, Ty C, Medeiros, Elizabeth B, Hodge, Jennelle C, Breman, Amy M, Schneider, Bryan P, Sahinalp, S Cenk, Numanagić, Ibrahim, Salisbury, Benjamin A, Bray, Steven M, Ratcliff, Ryan, Skaar, Todd C

“…Next-generation sequencing (NGS), including whole genome sequencing (WGS) and whole exome sequencing (WES), is increasingly being used for clinic care. While…”
Get full text

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia by 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

“…Recurrent interstitial deletion of a region of 8p23.1 flanked by the low copy repeats 8p‐OR‐REPD and 8p‐OR‐REPP is associated with a spectrum of anomalies that…”
Get full text

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

“…Four unrelated families with the same unbalanced translocation der(4)t(4;11)(p16.2;p15.4) were analyzed. Both of the breakpoint regions in 4p16.2 and 11p15.4…”
Get full text

A 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an individual with speech and language impairment suggests a possible positional effect by Iwata‐Otsubo, Aiko, Klee, Victoria H., Ahmad, Aaliya A., Walsh, Laurence E., Breman, Amy M.

“…Haploinsufficiency of FOXP2 causes FOXP2‐related speech and language disorder. We report a 9.8 Mb deletion downstream of FOXP2 in a girl with speech and…”
Get full text

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy by 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

“…Curation and interpretation of copy number variants identified by genome-wide testing is challenged by the large number of events harbored in each personal…”
Get full text

Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory by Petersen, Andrea K., Cheung, Sau Wai, Smith, Janice L., Bi, Weimin, Ward, Patricia A., Peacock, Sandra, Braxton, Alicia, Van Den Veyver, Ignatia B., Breman, Amy M.

“…Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data…”
Get full text

Regional genomic instability predisposes to complex dystrophin gene rearrangements by Oshima, Junko, Magner, Daniel B, Lee, Jennifer A, Breman, Amy M, Schmitt, Eric S, White, Lisa D, Crowe, Carol A, Merrill, Michelle, Jayakar, Parul, Rajadhyaksha, Aparna, Eng, Christine M, del Gaudio, Daniela

“…Mutations in the dystrophin gene (DMD) cause Duchenne and Becker muscular dystrophies and the majority of cases are due to DMD gene rearrangements. Despite the…”
Get full text

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties by Han, Kihoon, Holder Jr, 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.

“…Mutations in SHANK3 and large duplications of the region spanning SHANK3 both cause a spectrum of neuropsychiatric disorders, indicating that proper SHANK3…”
Get full text

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

“…elements, the short interspersed element numbering more than 1 million copies per human genome, can mediate the formation of copy number variants (CNVs)…”
Get full text

Input DNA Ratio Determines Copy Number of The 33 kb Factor IX Gene on De Novo Human Artificial Chromosomes by Breman, Amy M, Steiner, Camie M, Slee, Roger B, Grimes, Brenda R

“…Human artificial chromosomes (ACs) are non-integrating vectors that may be useful for gene therapy. They assemble in cultured cells following transfection of…”
Get full text

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

“…It has long been appreciated that genetic analysis of fetal or trophoblast cells in maternal blood could revolutionize prenatal diagnosis. We implemented a…”
Get full text

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures by Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A., Moog, Ute, Hao, Shuang, Bye, Ann, Kirk, Edwin P., Stankiewicz, Pawel, Breman, Amy M., McBride, Arran, Kandula, Tejaswi, Dubbs, Holly A., Macintosh, Rebecca, Cardamone, Michael, Zhu, Ying, Ying, Kevin, Dias, Kerith-Rae, Cho, Megan T., Henderson, Lindsay B., Baskin, Berivan, Morris, Paula, Tao, Jiang, Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony, Caluseriu, Oana, Suchowersky, Oksana, Sachdev, Rani K., Lichtarge, Olivier, Tang, Jianrong, Boycott, Kym M., Holder, J. Lloyd, Zoghbi, Huda Y.

“…Certain mutations can cause proteins to accumulate in neurons, leading to neurodegeneration. We recently showed, however, that upregulation of a wild-type…”
Get full text

Development of a Multifaceted Program for Pharmacogenetics Adoption at an Academic Medical Center: Practical Considerations and Lessons Learned by Shugg, Tyler, Tillman, Emma M., Breman, Amy M., Hodge, Jennelle C., McDonald, Christine A., Ly, Reynold C., Rowe, Elizabeth J., Osei, Wilberforce, Smith, Tayler B., Schwartz, Peter H., Callaghan, John T., Pratt, Victoria M., Lynch, Sheryl, Eadon, Michael T., Skaar, Todd C.

“…In 2019, Indiana University launched the Precision Health Initiative to enhance the institutional adoption of precision medicine, including pharmacogenetics…”
Get full text

Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development by 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

“…Detailed characterization of chromosomal abnormalities, a common cause for congenital abnormalities and pregnancy loss, is critical for elucidating genes for…”
Get full text

Two Patients with Complex Rearrangements Suggestive of Germline Chromoanagenesis by Arya, Priyanka, Hodge, Jennelle C, Matlock, Peggy A, Vance, Gail H, Breman, Amy M

“…Chromoanagenesis, a phenomenon characterized by complex chromosomal rearrangement and reorganization events localized to a limited number of genomic regions,…”
Get more information

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels by Yuan, Bo, Wang, Lei, Liu, Pengfei, Shaw, Chad, Dai, Hongzheng, Cooper, Lance, Zhu, Wenmiao, Anderson, Stephanie A., Meng, Linyan, Wang, Xia, Wang, Yue, Xia, Fan, Xiao, Rui, Braxton, Alicia, Peacock, Sandra, Schmitt, Eric, Ward, Patricia A., Vetrini, Francesco, He, Weimin, Chiang, Theodore, Muzny, Donna, Gibbs, Richard A., Beaudet, Arthur L., Breman, Amy M., Smith, Janice, Cheung, Sau Wai, Bacino, Carlos A., Eng, Christine M., Yang, Yaping, Lupski, James R., Bi, Weimin

“…Improved resolution of molecular diagnostic technologies enabled detection of smaller sized exonic level copy-number variants (CNVs). The contribution of CNVs…”
Get full text