Resultats de la cerca - Aradhya, Swaroop

AB003. Prevalence of copy number and structural variants across Mendelian disorders per Aradhya, Swaroop, Truty, Rebecca

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Genetics in mainstream medicine: Finally within grasp to influence healthcare globally per Aradhya, Swaroop, Nussbaum, Robert L.

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Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency per Quinn, Jessica, Modell, Vicki, Johnson, Britt, Poll, Sarah, Aradhya, Swaroop, Orange, Jordan S., Modell, Fred

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Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-γ) per Aradhya, Swaroop, Courtois, Gilles, Rajkovic, Aleks, Lewis, Richard Alan, Levy, Moise, Israël, Alain, Nelson, David L.

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Prevalence and properties of intragenic copy-number variation in Mendelian disease genes per Truty, Rebecca, Paul, Joshua, Kennemer, Michael, Lincoln, Stephen E., Olivares, Eric, Nussbaum, Robert L., Aradhya, Swaroop

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Jeffrey’s insights: Jeffrey Modell Foundation’s global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and tre... per Quinn, Jessica, Modell, Vicki, Holle, Jennifer, Truty, Rebecca, Aradhya, Swaroop, Johnson, Britt, Orange, Jordan, Modell, Fred

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X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in PLS3 per Brlek, Petar, Antičević, Darko, Molnar, Vilim, Matišić, Vid, Robinson, Kristina, Aradhya, Swaroop, Krpan, Dalibor, Primorac, Dragan

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A Novel Variantin GABRB2 Associated with Intellectual Disability and Epilepsy per Srivastava, Siddharth, Cohen, Julie, Pevsner, Jonathan, Aradhya, Swaroop, McKnight, Dianalee, Butler, Elizabeth, Johnston, Michael, Fatemi, Ali

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Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR per Nykamp, Keith, Truty, Rebecca, Riethmaier, Darlene, Wilkinson, Julia, Bristow, Sara L., Aguilar, Sienna, Neitzel, Dana, Faulkner, Nicole, Aradhya, Swaroop

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Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation per Truty, Rebecca, Ouyang, Karen, Rojahn, Susan, Garcia, Sarah, Colavin, Alexandre, Hamlington, Barbara, Freivogel, Mary, Nussbaum, Robert L., Nykamp, Keith, Aradhya, Swaroop

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SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals per Bowen, B. Monica, Truty, Rebecca, Aradhya, Swaroop, Bristow, Sara L., Johnson, Britt A., Morales, Ana, Tan, Christopher A., Westbrook, M. Jody, Winder, Thomas L., Chavez, Juan C.

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Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders per Winder, Thomas L., Tan, Christopher A., Klemm, Sarah, White, Hannah, Westbrook, Jody M., Wang, James Z., Entezam, Ali, Truty, Rebecca, Nussbaum, Robert L., McNally, Elizabeth M., Aradhya, Swaroop

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Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings per McKnight, Dianalee, Bristow, Sara L., Truty, Rebecca M., Morales, Ana, Stetler, Molly, Westbrook, M. Jody, Robinson, Kristina, Riethmaier, Darlene, Borlot, Felippe, Kellogg, Marissa, Hwang, Sean T., Berg, Anne, Aradhya, Swaroop

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Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program per Rush, Eric T., Johnson, Britt, Aradhya, Swaroop, Beltran, Daniel, Bristow, Sara L., Eisenbeis, Scott, Guerra, Norma E., Krolczyk, Stan, Miller, Nicole, Morales, Ana, Ramesan, Prameela, Sarafrazi, Soodabeh, Truty, Rebecca, Dahir, Kathryn

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Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers per Primorac, Dragan, Odak, Ljubica, Perić, Vitorio, Ćatić, Jasmina, Šikić, Jozica, Radeljić, Vjekoslav, Manola, Šime, Nussbaum, Robert, Vatta, Matteo, Aradhya, Swaroop, Sofrenović, Tanja, Matišić, Vid, Molnar, Vilim, Skelin, Andrea, Mirat, Jure, Brachmann, Johannes

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Severe intellectual disability and autistic features associated with microduplication 2q23.1 per Chung, Brian HY, Mullegama, Sureni, Marshall, Christian R, Lionel, Anath C, Weksberg, Rosanna, Dupuis, Lucie, Brick, Lauren, Li, Chumei, Scherer, Stephen W, Aradhya, Swaroop, Stavropoulos, D James, Elsea, Sarah H, Mendoza-Londono, Roberto

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Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge... per Riggs, Erin Rooney, Andersen, Erica F., Cherry, Athena M., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese

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Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing per Kalman, Lisa V., Tarleton, Jack C., Percy, Alan K., Aradhya, Swaroop, Bale, Sherri, Barker, Shannon D., Bayrak-Toydemir, Pinar, Bridges, Christina, Buller-Burckle, Arlene M., Das, Soma, Iyer, Ramaswamy K., Vo, Timothy D., Zvereff, Val V., Toji, Lorraine H.

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy per Truty, Rebecca, Patil, Nila, Sankar, Raman, Sullivan, Joseph, Millichap, John, Carvill, Gemma, Entezam, Ali, Esplin, Edward D., Fuller, Amy, Hogue, Michelle, Johnson, Britt, Khouzam, Amirah, Kobayashi, Yuya, Lewis, Rachel, Nykamp, Keith, Riethmaier, Darlene, Westbrook, Jody, Zeman, Michelle, Nussbaum, Robert L., Aradhya, Swaroop

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Subtelomeric Deletion of Chromosome 10p15.3: Clinical Findings and Molecular Cytogenetic Characterization per DeScipio, Cheryl, Conlin, Laura, Rosenfeld, Jill, Tepperberg, James, Pasion, Romela, Patel, Ankita, McDonald, Marie T, Aradhya, Swaroop, Ho, Darlene, Goldstein, Jennifer, McGuire, Marianne, Mulchandani, Surabhi, Medne, Livija, Rupps, Rosemarie, Serrano, Alvaro H., Thorland, Erik C, Tsai, Anne C-H, Hilhorst-Hofstee, Yvonne, Ruivenkamp, Claudia AL, Van Esch, Hilde, Addor, Marie-Claude, Martinet, Danielle, Mason, Thornton B.A., Clark, Dinah, Spinner, Nancy B, Krantz, Ian D

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