Concepedia

Cascade Genetic Testing

Cascade Genetic Testing is a targeted genetic screening strategy that systematically identifies at-risk relatives within a family by first confirming a pathogenic germline variant in a proband and then extending testing to biologically related individuals in a stepwise, cost-effective manner to clarify their inherited cancer susceptibility status.

108

Publications

5.4K

Citations

775

Authors

334

Institutions

Publications per year

2017–2026

70

Variants

Cascade ScreeningFamily Cascade Testing

Parents

Publications

108

Autism Spectrum Disorders and Attention-Deficit/Hyperactivity Disorder in Boys with the Fragile X Premutation

Faraz Farzin, Hazel Perry, David Hessl et al. · Journal of Developmental & Behavioral Pediatrics · 2006 · 326 citations

, , +17

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

Angela George, Daniel Riddell, Sheila Seal et al. · Scientific Reports · 2016 · 224 citations · Full text

, , +17

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

Zornitza Stark, Deborah Schofield, Melissa Martyn et al. · Genetics in Medicine · 2018 · 175 citations · Full text

, , +17

Cascade screening based on genetic testing is cost-effective: Evidence for the implementation of models of care for familial hypercholesterolemia

Zanfina Ademi, Gerald F. Watts, Jing Pang et al. · Journal of clinical lipidology · 2014 · 170 citations · Full text

, , +14

Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing

B J Starr, S. G. Hadfield, Barbara A. Hutten et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 2008 · 163 citations

, , +16

1–5 of 108

Authors

775

  1. AC
    Amy C. Sturm

    Geisinger Health System, United States

    6 publications · 244 citations

    6

    h-index

  2. AK
    Alanna Kulchak Rahm

    Geisinger Health System, United States

    6 publications · 205 citations

    6

    h-index

  3. ED
    Edward D. Esplin

    Invitae (United States), United States

    5 publications · 165 citations

    5

    h-index

  4. GC
    Gemme Campbell‐Salome

    Geisinger Health System, United States

    5 publications · 210 citations

    5

    h-index

  5. RG
    Rossella Graffeo

    European Institute of Oncology, Italy

    4 publications · 78 citations

    4

    h-index

1–5 of 775

Institutions

334

  1. The University of Melbourne

    Melbourne, Australia

    8 h-index

    29 publications

    3.3K citations

  2. Cancer Genetics (United States)

    Rutherford, United States

    7 h-index

    21 publications

    2.4K citations

  3. Murdoch Children's Research Institute

    Melbourne, Australia

    7 h-index

    30 publications

    3.2K citations

  4. Invitae (United States)

    San Francisco, United States

    7 h-index

    29 publications

    1.1K citations

  5. The University of Western Australia

    Perth, Australia

    5 h-index

    18 publications

    1.7K citations

  6. Royal Perth Hospital

    Perth, Australia

    4 h-index

    13 publications

    1.2K citations

  7. The University of Texas MD Anderson Cancer Center

    Houston, United States

    4 h-index

    10 publications

    219 citations

  8. Mayo Clinic

    Rochester, United States

    4 h-index

    8 publications

    209 citations

1–8 of 334

Venues

  1. Genetics in Medicine

    GIM · 7 publications · 631 citations

    7

    h-index

  2. Journal of Genetic Counseling

    7 publications · 333 citations

    7

    h-index

  3. American Journal of Medical Genetics Part A

    6 publications · 330 citations

    6

    h-index

  4. Genes

    3 publications · 68 citations

    3

    h-index

  5. Journal of Medical Genetics

    JMG · 3 publications · 66 citations

    3

    h-index

1–5