Concepedia

Monogenic Disorder Testing

Monogenic Disorder Testing is a methodological framework within invasive prenatal testing that specifically identifies pathogenic variants in single genes responsible for monogenic disorders through direct fetal genetic analysis.

87

Publications

5K

Citations

835

Authors

340

Institutions

Publications per year

2017–2026

63

Parents

Publications

87

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark, Tiong Yang Tan, Belinda Chong et al. · Genetics in Medicine · 2016 · 411 citations · Full text

, , +16

Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma

Fiona M. F. Lun, Nancy B. Y. Tsui, K.C. Allen Chan et al. · Proceedings of the National Academy of Sciences · 2008 · 371 citations · Full text

, , +14

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

Sian Ellard, Hana Lango Allen, Elisa De Franco et al. · Diabetologia · 2013 · 316 citations · Full text

, , +17

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

Jinglan Zhang, Jianli Li, Jennifer Saucier et al. · Nature Medicine · 2019 · 265 citations

, , +16

Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues

Anna Lewis, Robert C. Green · Genome Medicine · 2021 · 186 citations · Full text

, , +17

1–5 of 87

Authors

835

  1. KC
    Kevin Colclough

    Royal Devon & Exeter NHS Foundation Trust, United Kingdom

    5 publications · 499 citations

    5

    h-index

  2. AT
    Andrew T. Hattersley

    University of Exeter, United Kingdom

    5 publications · 496 citations

    5

    h-index

  3. SE
    Sian Ellard

    University of Exeter, United Kingdom

    5 publications · 499 citations

    5

    h-index

  4. LS
    Lyn S. Chitty

    University College London, United Kingdom

    4 publications · 239 citations

    4

    h-index

  5. JD
    Jos Dreesen

    Maastricht University Medical Centre, Netherlands

    4 publications · 380 citations

    4

    h-index

1–5 of 835

Institutions

340

  1. University College London

    London, United Kingdom

    7 h-index

    25 publications

    1.4K citations

  2. University of Exeter

    Exeter, United Kingdom

    5 h-index

    28 publications

    4.1K citations

  3. Maastricht University

    Maastricht, The Netherlands

    5 h-index

    20 publications

    1.3K citations

  4. Maastricht University Medical Centre

    Maastricht, The Netherlands

    4 h-index

    15 publications

    938 citations

  5. Great Ormond Street Hospital

    London, United Kingdom

    4 h-index

    18 publications

    946 citations

  6. Broad Institute

    Cambridge, United States

    4 h-index

    11 publications

    646 citations

  7. The University of Melbourne

    Melbourne, Australia

    4 h-index

    23 publications

    7K citations

  8. KU Leuven

    Leuven, Belgium

    4 h-index

    21 publications

    1.5K citations

1–8 of 340

Venues

  1. Human Reproduction

    5 publications · 193 citations

    5

    h-index

  2. Fertility and Sterility

    4 publications · 349 citations

    4

    h-index

  3. Prenatal Diagnosis

    4 publications · 152 citations

    4

    h-index

  4. Genetics in Medicine

    GIM · 4 publications · 547 citations

    4

    h-index

  5. Molecular Genetics & Genomic Medicine

    4 publications · 76 citations

    4

    h-index

1–5