检索结果 - Aradhya, Swaroop

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

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Genetics in mainstream medicine: Finally within grasp to influence healthcare globally 由 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 由 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) 由 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 由 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... 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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... 由 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 由 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 由 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 由 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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