Search Results - "Edelmann, Lisa J"

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome by Carvajal-Vergara, Xonia, Lemischka, Ihor R, Sevilla, Ana, D'Souza, Sunita L, Ang, Yen-Sin, Schaniel, Christoph, Lee, Dung-Fang, Yang, Lei, Kaplan, Aaron D, Adler, Eric D, Rozov, Roye, Ge, YongChao, Cohen, Ninette, Edelmann, Lisa J, Chang, Betty, Waghray, Avinash, Su, Jie, Pardo, Sherly, Lichtenbelt, Klaske D, Tartaglia, Marco, Gelb, Bruce D

“…The generation of reprogrammed induced pluripotent stem cells (iPSCs) from patients with defined genetic disorders holds the promise of increased understanding…”
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Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring by Kolevzon, Alexander, Angarita, Benjamin, Bush, Lauren, Wang, A Ting, Frank, Yitzchak, Yang, Amy, Rapaport, Robert, Saland, Jeffrey, Srivastava, Shubhika, Farrell, Cristina, Edelmann, Lisa J, Buxbaum, Joseph D

“…Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal…”
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Robust identification of mosaic variants in congenital heart disease by Manheimer, Kathryn B., Richter, Felix, Edelmann, Lisa J., D’Souza, Sunita L., Shi, Lisong, Shen, Yufeng, Homsy, Jason, Boskovski, Marko T., Tai, Angela C., Gorham, Joshua, Yasso, Christopher, Goldmuntz, Elizabeth, Brueckner, Martina, Lifton, Richard P., Chung, Wendy K., Seidman, Christine E., Seidman, J. G., Gelb, Bruce D.

“…Mosaicism due to somatic mutations can cause multiple diseases including cancer, developmental and overgrowth syndromes, neurodevelopmental disorders,…”
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Role of Copy Number Variants in Structural Birth Defects by SOUTHARD, Abigail E, EDELMANN, Lisa J, GELB, Bruce D

“…Human genomes include copy number variants (CNVs), defined as regions with DNA gains or losses. Pathologic CNVs, which are larger and often occur de novo, are…”
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Evaluation of the Affymetrix CytoScan(®) Dx Assay for developmental delay by Webb, Bryn D, Scharf, Rebecca J, Spear, Emily A, Edelmann, Lisa J, Stroustrup, Annemarie

“…The goal of molecular cytogenetic testing for children presenting with developmental delay (DD) is to identify or exclude genetic abnormalities that are…”
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Role of Copy Number Variants in Structural Birth Defects by Southard, Abigail E, Edelmann, Lisa J, Gelb, Bruce D

“…The Human Genome Project led to the discovery that the genome contains multiple regions of DNA gains and losses called copy number variants (CNVs). Benign CNVs…”
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Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome by Carvajal-Vergara, Xonia, Sevilla, Ana, D'Souza, Sunita L, Ang, Yen-Sin, Schaniel, Christoph, Lee, Dung-Fang, Yang, Lei, Kaplan, Aaron D, Adler, Eric D, Rozov, Roye, Ge, YongChao, Cohen, Ninette, Edelmann, Lisa J, Chang, Betty, Waghray, Avinash, Su, Jie, Pardo, Sherly, Lichtenbelt, Klaske D, Tartaglia, Marco, Gelb, Bruce D, Lemischka, Ihor R

“…The generation of reprogrammed induced pluripotent stem cells (iPSCs) from patients with defined genetic disorders holds the promise of increased understanding…”
Get full text