Search Results - "Mouhlas, Danielle"

Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing by Olayiwola, Joie O., Marhabaie, Mohammad, Koboldt, Daniel, Matthews, Theodora, Siemon, Amy, Mouhlas, Danielle, Porter, Taylor, Kyle, George, Myers, Cortlandt, Mei, Hui, Hou, Ying‐Chen Claire, Babcock, Melanie, Hunter, Jesse, Schieffer, Kathleen M., Akkari, Yassmine, Reshmi, Shalini, Cottrell, Catherine, Mathew, Mariam T., Leung, Marco L.

“…Background Chromosomal microarray (CMA) is commonly utilized in the obstetrics setting. CMA is recommended when one or more fetal structural abnormalities is…”
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Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital by Swaminathan, Rajeswari, Huang, Yungui, Miller, Katherine, Pastore, Matthew, Hashimoto, Sayaka, Jacobson, Theodora, Mouhlas, Danielle, Lin, Simon

“…The adoption rate of genome sequencing for clinical diagnostics has been steadily increasing leading to the possibility of improvement in diagnostic yields…”
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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum by Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva H., Boni, Stefania, Mazzanti, Laura, Tamburrino, Federica, Walsh, Larry, Payne, Katelyn, Fernández-Jaén, Alberto, Ganapathi, Mythily, Chung, Wendy K., Grange, Dorothy K., Dave-Wala, Ashita, Reshmi, Shalini C., Bartholomew, Dennis W., Mouhlas, Danielle, Carpentieri, Giovanna, Bruselles, Alessandro, Pizzi, Simone, Bellacchio, Emanuele, Piceci-Sparascio, Francesca, Lißewski, Christina, Brinkmann, Julia, Waclaw, Ronald R., Waisfisz, Quinten, van Gassen, Koen, Wentzensen, Ingrid M., Morrow, Michelle M., Álvarez, Sara, Martínez-García, Mónica, De Luca, Alessandro, Memo, Luigi, Zampino, Giuseppe, Rossi, Cesare, Seri, Marco, Gelb, Bruce D., Zenker, Martin, Dallapiccola, Bruno, Stella, Lorenzo, Prada, Carlos E., Martinelli, Simone, Flex, Elisabetta, Tartaglia, Marco

“…Signal transduction through the RAF-MEK-ERK pathway, the first described mitogen-associated protein kinase (MAPK) cascade, mediates multiple cellular processes…”
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A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties by Mathew, Mariam T., Antoniou, Austin, Ramesh, Naveen, Hu, Min, Gaither, Jeffrey, Mouhlas, Danielle, Hashimoto, Sayaka, Humphrey, Maggie, Matthews, Theodora, Hunter, Jesse M., Reshmi, Shalini, Schultz, Matthew, Lee, Kristy, Pfau, Ruthann, Cottrell, Catherine, McBride, Kim L., Navin, Nicholas E., Chaudhari, Bimal P., Leung, Marco L.

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Evaluating the mutational spectrum of SIN3A alterations: a case series of patients profiled by next generation sequencing by Hickey, Scott, Bartholomew, Dennis, Truxal, Kristen, McBride, Kim, Manickam, Kandamurugu, Mori, Mari, Corsmeier, Don, Jayaraman, Vijayakumar, Dave-Wala, Ashita, McKinney, Aimee, Wetzel, Amy, Wijeratne, Saranga, Caceres, Valentina, Garner, Shannon, Hashimoto, Sayaka, Matthews, Theodora, Mouhlas, Danielle, Humphrey, Maggie, Grossman, Tom, Kelly, Benjamin, Koboldt, Daniel, Magrini, Vincent, White, Peter, Wilson, Richard, Cottrell, Catherine, Lee, Kristy, Mathew, Mariam, Melas, Marilena

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eP420 - Evaluating the mutational spectrum of SIN3A alterations: a case series of patients profiled by next generation sequencing by Hickey, Scott, Bartholomew, Dennis, Truxal, Kristen, McBride, Kim, Manickam, Kandamurugu, Mori, Mari, Corsmeier, Don, Jayaraman, Vijayakumar, Dave-Wala, Ashita, McKinney, Aimee, Wetzel, Amy, Wijeratne, Saranga, Caceres, Valentina, Garner, Shannon, Hashimoto, Sayaka, Matthews, Theodora, Mouhlas, Danielle, Humphrey, Maggie, Grossman, Tom, Kelly, Benjamin, Koboldt, Daniel, Magrini, Vincent, White, Peter, Wilson, Richard, Cottrell, Catherine, Lee, Kristy, Mathew, Mariam, Melas, Marilena

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Lynch syndrome-associated colorectal cancer in a 16-year-old girl due to a de novo MSH2 mutation by Zajo, Kristin, Colace, Susan I, Mouhlas, Danielle, Erdman, Steven H

“…The diagnosis of paediatric colorectal cancer is an unusual finding often diagnosed at an advanced stage with associated poor survival. Paediatric colorectal…”
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37. Prenatal diagnosis of an unusual mosaic homozygous t(2;3) balanced translocation by Melas, Marilena, Deeg, Carol, Hamelberg, Elizabeth, Haughn, Mollie, Kennedy, Hannah, Meleski, Matthew, Roman, Donald, Smith, Michael, Witkoff, Adam, Wobser, Jeffrey, Hashimoto, Sayaka, Jacobson, Theodora, Mouhlas, Danielle, Reshmi, Shalini C., Schultz, Matthew J., Pfau, Ruthann B.

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Disease-Associated Mosaic Variation in Clinical Exome Sequencing: A Two Year Pediatric Tertiary Care Experience by Miller, Cecelia R, Lee, Kristy, Pfau, Ruthann B, Reshmi, Shalini C, Corsmeier, Donald J, Hashimoto, Sayaka, Dave-Wala, Ashita, Jayaraman, Vijayakumar, Koboldt, Daniel C, Matthews, Theodora, Mouhlas, Danielle, Stein, Maggie, McKinney, Aimee, Grossman, Tom, Kelly, Benjamin J, White, Peter, Magrini, Vincent, Wilson, Richard K, Mardis, Elaine R, Cottrell, Catherine E

“…Exome sequencing (ES) has become an important tool in pediatric genomic medicine, improving identification of disease-associated variation due to assay…”
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Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant by Barrie, Elizabeth S., Li, Yu, Lamb-Thrush, Devon, Hashimoto, Sayaka, Matthews, Theodora, Mouhlas, Danielle, Pyatt, Robert, Reshmi, Shalini C., Gastier-Foster, Julie M., Pfau, Ruthann, Astbury, Caroline

“…While chromosomal regions of homozygosity (ROH) may implicate genes in known recessive disorders, their correlation to disease pathogenicity remains unclear…”
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