Concepedia

Genetic Testing Strategy

Genetic Testing Strategy is a methodological framework within genetic medicine that specifies the systematic approach for selecting, sequencing, and interpreting genetic assays in the context of diagnosing and managing inherited eye diseases.

163

Publications

6.1K

Citations

1K

Authors

482

Institutions

Publications per year

2017–2026

56

Parents

Publications

163

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1

Sharareh Monemi · Human Molecular Genetics · 2005 · 431 citations

, , +13

Leber Congenital Amaurosis–A Model for Efficient Genetic Testing of Heterogeneous Disorders: LXIV Edward Jackson Memorial Lecture

Edwin M. Stone · American Journal of Ophthalmology · 2007 · 307 citations · Full text

, , +14

Genetic Screening of Combined Pituitary Hormone Deficiency: Experience in 195 Patients

Rachel Reynaud, Magali Gueydan, Alexandru Saveanu et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 150 citations · Full text

, , +16

A New Testing Strategy to Identify Rare Variants with Either Risk or Protective Effect on Disease

Iuliana Ionita‐Laza, Joseph D. Buxbaum, Nan M. Laird et al. · PLoS Genetics · 2011 · 149 citations · Full text

, , +17

Screening of the Entire Ryanodine Receptor Type 1 Coding Region for Sequence Variants Associated with Malignant Hyperthermia Susceptibility in the North American Population

Nyamkhishig Sambuughin, Heather Holley, Sheila M. Muldoon et al. · Anesthesiology · 2005 · 148 citations · Full text

, , +15

1–5 of 163

Authors

1K

  1. KT
    Kathy Tucker

    Prince of Wales Hospital, Australia

    3 publications · 63 citations

    3

    h-index

  2. BM
    Bettina Meiser

    UNSW Sydney, Australia

    3 publications · 63 citations

    3

    h-index

  3. FP
    Frans P.M. Cremers

    Radboud University Nijmegen, Netherlands

    3 publications · 111 citations

    3

    h-index

  4. JK
    Judy Kirk

    Westmead Hospital, Australia

    3 publications · 63 citations

    3

    h-index

  5. MG
    Margaret Gleeson

    Hunter Genetics, Australia

    3 publications · 63 citations

    3

    h-index

1–5 of 1K

Institutions

482

  1. The University of Sydney

    Sydney, Australia

    6 h-index

    13 publications

    383 citations

  2. Manchester Academic Health Science Centre

    Manchester, United Kingdom

    5 h-index

    16 publications

    1.3K citations

  3. Harvard University

    Cambridge, United States

    4 h-index

    10 publications

    782 citations

  4. The University of Western Australia

    Perth, Australia

    4 h-index

    8 publications

    169 citations

  5. University of Manchester

    Manchester, United Kingdom

    3 h-index

    11 publications

    877 citations

  6. Oxford University Hospitals NHS Trust

    Oxford, United Kingdom

    3 h-index

    9 publications

    211 citations

  7. Consejo Nacional de Investigaciones Científicas y Técnicas

    Buenos Aires, Argentina

    3 h-index

    8 publications

    202 citations

  8. The University of Melbourne

    Melbourne, Australia

    3 h-index

    4 publications

    107 citations

1–8 of 482

Venues

  1. Ophthalmic Genetics

    6 publications · 138 citations

    6

    h-index

  2. PubMed

    Repository · 6 publications · 217 citations

    6

    h-index

  3. Ophthalmology

    4 publications · 137 citations

    4

    h-index

  4. Genetics in Medicine

    GIM · 4 publications · 87 citations

    4

    h-index

  5. Familial Cancer

    3 publications · 48 citations

    3

    h-index

1–5