Showing 1 - 6 results of 6 for search 'Blake Vuocolo', query time: 0.03s Refine Results
  1. 1
    O19: Antisense oligonucleotide targeting a linked-SNP provides allele-specific and effective knockdown to a dominant negative SPTAN1 pathogenic variant

    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
    Get full text
    Article
  2. 2
    Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

    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
    Get full text
    Article
  3. 3
    Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population

    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
    Get full text
    Article
  4. 4
    P374: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using a telehealth platform

    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
    Get full text
    Article
  5. 5
    P513: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using an EHR-agnostic tele-engagement platform

    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
    Get full text
    Article
  6. 6
    P495: Improving access to exome sequencing in medically underserved populations through the Texome Project: A summary of the first 74 cases

    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
    Get full text
    Article

Search Tools: