P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population by Brittany Thomas, Akanchha Kesari, Aime Lumaka, Mario Cornejo-Olivas, David Ward, Parul Jayakar, Donald Basel, Marilyn Jones, Erin Thorpe, Denise Perry, Ryan Taft

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P368: Novel mutation in ZIC3 in a Peruvian family with variable phenotype VACTERL-H association by Giulliana Chávez-Pasco, Jeny Bazalar-Montoya, Cecilia Bonilla Suarez, Krista Bluske, Samuel Strom, Alka Malhotra, Becky Milewski, Erin Thorpe, Ryan Taft, Gioconda Manassero-Morales

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P412: A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with dystrophinopathy by 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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X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3. by Jia-Hui Sun, Jiang Chen, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Berardo Rinaldi, Wenhui Laura Li, Qing-Qing Li, Dan Wu, Benedicte Gerard, Erin Thorpe, Allan Bayat, Yun Stone Shi

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P624: Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru by Erin Thorpe, Milagros Duenas-Roque, Mario Cornejo-Olivas, Jeny Bazalar-Montoya, Nelson Purizaca-Rosillo, Richard Rodriguez, Karina Milla-Neyra, Carlos De La Torre-Hernandez, Elison Sarapura-Castro, Carolina Galarreta Aima, Gioconda Manassero-Morales, Giulliana Chávez-Pasco, Luis Celis-García, Jorge La Serna, Ryan Taft

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Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases by Amanda R. Clause, Julie P. Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett, Laura M. Amendola, David R. Bentley, Ryan J. Taft, Denise L. Perry, Alison J. Coffey, Carolyn Brown, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Katie Golden-Grant, Akanchha Kesari, Alka Malhotra, Becky Milewski, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Brittany Thomas, Erin Thorpe

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Clinical genome sequencing in patients with suspected rare genetic disease in Peru by Jeny Bazalar-Montoya, Mario Cornejo-Olivas, Milagros M. Duenas-Roque, Nelson Purizaca-Rosillo, Richard S. Rodriguez, Karina Milla-Neyra, Carlos A. De La Torre-Hernandez, Elison Sarapura-Castro, Carolina I. Galarreta Aima, Gioconda Manassero-Morales, Giulliana Chávez-Pasco, Luis Celis-García, Jorge E. La Serna-Infantes, Illumina Laboratory Services Bioinformatics, Software, Interpretation and Customer Support, Evgenii Chekalin, Erin Thorpe, Ryan J. Taft

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O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients* by Ryan Taft, Erin Thorpe, John Belmont, Taylor Williams, Chad Shaw, Jason Button, Julia Ortega, Keisha Robinson, Marilyn Jones, Diane Masser-Frye, Donald Basel, Chester Brown, Keith Vaux, Aime Lumaka, Fabio Sirchia, Milagros Dueñas Roque, Mario Cornejo-Olivas, Jeny Bazalar-Montoya, Nora Urraca, Alejandra Salguero, Samuel Wiafe, Romina Foster-Bonds, Erin Royer, Michelle Gallas, Pilar Magoulas, Adeline Vanderver, Marwan Shinawi, Alan Taylor, Kristen Fishler, Duncan Henry, Daria Salyakina, Kate Gibson, Melissa Lah, Alka Malhotra, James Avecilla, Andrew Warren, Denise Perry, Max Arseneault

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