Concepedia

Mutation Panel Design

Mutation Panel Design is a methodological framework in molecular diagnostics that specifies the selection and organization of known pathogenic variants within a target gene or set of genes to enable targeted genotyping for the accurate and efficient prenatal detection of hemoglobinopathies.

37

Publications

1.7K

Citations

269

Authors

148

Institutions

Publications per year

2017–2026

11

Parents

Publications

37

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Michael S. Watson, Garry R. Cutting, Robert J. Desnick et al. · Genetics in Medicine · 2004 · 479 citations · Full text

, , +16

Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases

Mélanie Eyries, David Montani, Sophie Nadaud et al. · European Respiratory Journal · 2018 · 107 citations · Full text

, , +15

Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel

Ruth A. Heim, Elaine A. Sugarman, Bernice A. Allitto · Genetics in Medicine · 2001 · 101 citations

, , +16

<p>A novel mutation panel for predicting etoposide resistance in small-cell lung cancer</p>

Zhengang Qiu, Anqi Lin, Kun Li et al. · Drug Design Development and Therapy · 2019 · 93 citations · Full text

, , +17

Molecular Characterization of Sporadic Pediatric Thyroid Carcinoma with the DNA/RNA ThyroSeq v2 Next-Generation Sequencing Assay

Jennifer Picarsic, Melissa Buryk, John A. Ozolek et al. · Pediatric and Developmental Pathology · 2015 · 82 citations · Full text

, , +17

1–5 of 37

Authors

269

  1. HS
    Hidenobu Soejima

    Saga University, Japan

    2 publications · 29 citations

    2

    h-index

  2. CJ
    Chaim Jalas

    Kingsbrook Jewish Medical Center, United States

    2 publications · 33 citations

    2

    h-index

  3. KY
    Kankatsu Yun

    University of Otago, New Zealand

    2 publications · 29 citations

    2

    h-index

  4. JE
    Josef Ekstein

    Center for Jewish–Christian Understanding and Cooperation, Israel

    2 publications · 33 citations

    2

    h-index

  5. NR
    Nathan R. Treff

    Reproductive Medicine Associates of New Jersey, United States

    2 publications · 33 citations

    2

    h-index

1–5 of 269

Institutions

148

  1. Johnson University

    Knoxville, United States

    2 h-index

    4 publications

    66 citations

  2. Cancer Genetics (United States)

    Rutherford, United States

    2 h-index

    3 publications

    107 citations

  3. Mayo Clinic in Arizona

    Scottsdale, United States

    2 h-index

    17 publications

    727 citations

  4. University of Otago

    Dunedin, New Zealand

    2 h-index

    8 publications

    116 citations

  5. Icahn School of Medicine at Mount Sinai

    New York, United States

    2 h-index

    5 publications

    563 citations

  6. Reproductive Medicine Associates of New Jersey

    Morristown, United States

    2 h-index

    4 publications

    66 citations

  7. Quest Diagnostics (United States)

    Madison, United States

    2 h-index

    9 publications

    1.1K citations

  8. University of Utah

    Salt Lake City, United States

    2 h-index

    9 publications

    243 citations

1–8 of 148

Venues

  1. British Journal of Haematology

    BJH · 3 publications · 101 citations

    3

    h-index

  2. Genetics in Medicine

    GIM · 3 publications · 598 citations

    3

    h-index

  3. Blood

    2 publications · 29 citations

    2

    h-index

  4. Journal of Molecular Diagnostics

    JMD · 2 publications · 85 citations

    2

    h-index

  5. Clinical Genetics

    2 publications · 33 citations

    2

    h-index

1–5