Concepedia

Variant Screening

Variant Screening is a systematic evaluation process within iterative selection cycles that identifies and prioritizes candidate variants according to predefined criteria to determine their suitability for advancement in the developmental or research pipeline.

42

Publications

1.3K

Citations

529

Authors

241

Institutions

Publications per year

2017–2026

22

Parents

Publications

42

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data

Justin O. Szot, Hartmut Cuny, Gillian M. Blue et al. · Circulation Genomic and Precision Medicine · 2018 · 100 citations · Full text

, , +17

A truncated reverse transcriptase enhances prime editing by split AAV vectors

Zongliang Gao, Sujan Ravendran, Nanna S. Mikkelsen et al. · Molecular Therapy · 2022 · 96 citations · Full text

, , +15

Multiplex SARS-CoV-2 Genotyping Reverse Transcriptase PCR for Population-Level Variant Screening and Epidemiologic Surveillance

Hannah Wang, Jacob A. Miller, Michelle Verghese et al. · Journal of Clinical Microbiology · 2021 · 93 citations · Full text

, , +17

Analysis of <i>LRRK2</i> functional domains in nondominant Parkinson disease

Lisa Skipper, Hui Shen, E. Chua et al. · Neurology · 2005 · 75 citations

, , +17

Whole-Exome Sequencing Reveals Defective <i>CYP3A4</i> Variants Predictive of Paclitaxel Dose-Limiting Neuropathy

María Apellániz-Ruiz, Miyoung Lee, Lara M. Munín Sánchez et al. · Clinical Cancer Research · 2014 · 72 citations · Full text

, , +17

1–5 of 42

Authors

529

  1. JA
    Jacob A. Miller

    Cleveland Clinic, United States

    2 publications · 106 citations

    2

    h-index

  2. XF
    Xuan Feng

    Gansu Provincial Maternal and Child Health Hospital, China

    2 publications · 32 citations

    2

    h-index

  3. DS
    Daniel Solis

    Stanford University, United States

    2 publications · 106 citations

    2

    h-index

  4. RO
    Rasmus O. Bak

    Aarhus University, Denmark

    2 publications · 106 citations

    2

    h-index

  5. HL
    Heidi L. Rehm

    Harvard University, United States

    2 publications · 68 citations

    2

    h-index

1–5 of 529

Institutions

241

  1. Inserm

    Paris, France

    3 h-index

    12 publications

    301 citations

  2. University of California, San Francisco

    San Francisco, United States

    3 h-index

    11 publications

    480 citations

  3. Broad Institute

    Cambridge, United States

    3 h-index

    11 publications

    320 citations

  4. Harvard University

    Cambridge, United States

    3 h-index

    9 publications

    234 citations

  5. Chinese Academy of Medical Sciences & Peking Union Medical College

    Beijing, China

    3 h-index

    17 publications

    335 citations

  6. University of Cincinnati Medical Center

    Cincinnati, United States

    2 h-index

    3 publications

    62 citations

  7. Genomic Health (United States)

    Redwood City, United States

    2 h-index

    4 publications

    114 citations

  8. Boston Children's Hospital

    Boston, United States

    2 h-index

    4 publications

    114 citations

1–8 of 241

Venues

  1. Genetics in Medicine

    GIM · 4 publications · 111 citations

    4

    h-index

  2. Neurology

    3 publications · 100 citations

    3

    h-index

  3. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 2 publications · 23 citations

    2

    h-index

  4. Journal of Medical Genetics

    JMG · 2 publications · 48 citations

    2

    h-index

  5. Scientific Reports

    2 publications · 37 citations

    2

    h-index

1–5