O19: Antisense oligonucleotide targeting a linked-SNP provides allele-specific and effective knockdown to a dominant negative SPTAN1 pathogenic variant

by Christiana Wang, Shenglan Li, Sen Zhao, Jefferson Sinson, Nhi Ho, Blake Vuocolo, Gary Clark, Sandesh Nagamani, Pengfei Liu
Published 2024-01-01

Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

by Ryan J. German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A. Lewis, Lisa Saba, The Texome Project, Michael F. Wangler, Sandesh Nagamani
Published 2024-02-01

Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population

by Cara P. Ford, Rebecca O. Littlejohn, Ryan German, Blake Vuocolo, Jose Aceves, Liesbeth Vossaert, Nichole Owen, Michael Wangler, Carrie A. Schmid, The Texome Project
Published 2023-12-01

P374: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using a telehealth platform

by Dan Brooks, Blake Vuocolo, Roberta Sierra, Christopher Holder, Lauren Urbanski, Lori Berry, Segundo Lizardo-Guzman, Ana Hernandez, Jose Gamez Godoy, Surya Mulukutla, Hongzheng Dai, Brendan Lee, Claudia Soler-Alfonso, Kent Carter, Seema Lalani
Published 2023-01-01

P513: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using an EHR-agnostic tele-engagement platform

by Blake Vuocolo, Roberta Sierra, Dan Brooks, Kent Carter, Keila Rodriguez, Lori Berry, Ana Hernandez, Christopher Holder, Lauren Urbanski, Jose Gamez Godoy, Surya Mulukutla, Segundo Lizardo-Guzman, Humberto Hidalgo, Alberto Allegre, Sandy Magallan, Sarah Rodriguez, Claudia Soler-Alfonso, Hongzheng Dai, Brendan Lee, Seema Lalani
Published 2024-01-01

P495: Improving access to exome sequencing in medically underserved populations through the Texome Project: A summary of the first 74 cases

by Blake Vuocolo, Ryan German, Carlos Bacino, Chaya Murali, Seema Lalani, Stephanie Baskin, Elizabeth Roeder, Carrie Schmid, Scott McLean, Rebecca Littlejohn, Olivia Juarez, Melissa Stuebben, Liesbeth Vossaert, Nichole Owen, Christine Eng, Pengfei Liu, Zhandong Liu, Dongxue Mao, Seon Young Kim, Sasidhar Pasupuleti, Shinya Yamamoto, Hugo Bellen, Michael Wangler
Published 2024-01-01