Bilaketaren emaitzak - Revathi Rajkumar

An observational study on adverse drug reaction profile in patients on long-term treatment with proton pump inhibitors nork Revathi Rajkumar, Bhagyalekshmi N, Ramesh M, Santhosh R Pillai

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P412: A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with dystrophinopathy nork Jeny Bazalar-Montoya, Richard Rodriguez, Giulliana Chávez-Pasco, Peggy Martínez-Esteban, Revathi Rajkumar, Akanchha Kesari, Carolyn Brown, Erin Thorpe, Ryan Taft, Gioconda Manassero-Morales

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P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases nork Revathi Rajkumar, Anjana Chandrasekhar, Zinayida Schlachetzki, Samin Sajan, Brittany Thomas, Becky Milewski, Joshua Lowry, Richard Wang, Jon Albay, Danny Miller, Kaitlyn Burns, Laura Davis-Keppen, Nora Urraca, Kerri Bosfield, Katherine Cung, Erin Venti, Ryan Taft, Denise Perry, Akanchha Kesari

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Development of a comprehensive cardiovascular disease genetic risk assessment test nork Laura M. Amendola, Alison J. Coffey, Josh Lowry, James Avecilla, Alka Malhotra, Aditi Chawla, Stetson Thacker, Julie P. Taylor, Revathi Rajkumar, Carolyn M. Brown, Katie Golden-Grant, Rueben Hejja, Tasha Kalista, Jennifer A. Lee, Phillip Medrano, Becky Milewski, Felipe Mullen, Andrew Walker, Adriana Huertas-Vazquez, Mauro Longoni, Keisha Robinson, Denise L. Perry, Damon Hostin, Subramanian S. Ajay, Akanchha Kesari, Samuel P. Strom, Elliott Margulies, John Belmont, David E. Lanfear, Ryan J. Taft

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Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease nork Alka Malhotra, Erin Thorpe, Alison J. Coffey, Revathi Rajkumar, Josephine Adjeman, Naomi Dianne Naa Adjeley Adjetey, Sharron Aglobitse, Felix Allotey, Todor Arsov, Joyce Ashong, Ebenezer Vincent Badoe, Donald Basel, Yvonne Brew, Chester Brown, Kerri Bosfield, Kari Casas, Mario Cornejo-Olivas, Laura Davis-Keppen, Abbey Freed, Kate Gibson, Parul Jayakar, Marilyn C. Jones, Martina Kawome, Aimé Lumaka, Ursula Maier, Prince Makay, Gioconda Manassero, Marilyn Marbell-Wilson, Charles Marcuccilli, Diane Masser-Frye, Julie McCarrier, Hannah-Sharon Mills, Jeny Balazar Montoya, Gerrye Mubungu, Mamy Ngole, Jorge Perez, Eniko Pivnick, Milagros M. Duenas-Roque, Hildegard Pena Salguero, Arturo Serize, Marwan Shinawi, Fabio Sirchia, Claudia Soler-Alfonso, Alan Taylor, Lauren Thompson, Gail Vance, Adeline Vanderver, Keith Vaux, Danita Velasco, Samuel Wiafe, Ryan J. Taft, Denise L. Perry, Akanchha Kesari

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships nork Eleanor C. Broeren, Vanessa N. Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie B. Balzotti, Jonathan S. Berg, Krista Bluske, B. Monica Bowen, Matthew P. Brown, Amanda Buchanan, Brendan T. Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda R. Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa A. Elnagheeb, Amanda N. Girod, Himanshu Goel, Katie L. Golden-Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya S. Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, Sarah E. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah R. McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma H. Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher J. Patel, Revathi Rajkumar, Julie C. Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah A. Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon L. Thrush, Sabrina Toro, Kezang C. Tshering, Nicole A. Vasilevsky, Bess Wayburn, Ryan F. Webb, Anne O’Donnell-Luria, Alison J. Coffey

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