Concepedia

Phenotypic Spectrum Analysis

Phenotypic Spectrum Analysis is a systematic investigative framework in genetics that characterizes the range and variability of observable traits associated with specific genotypes to elucidate the relationship between genetic variation and phenotypic expression.

687

Publications

39.5K

Citations

7.3K

Authors

2K

Institutions

Publications per year

2017–2026

305

Parents

Publications

687

Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: Morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients

Heinrich G. Klues, Andrea Schiffers, Barry J. Maron · Journal of the American College of Cardiology · 1995 · 660 citations

, , +12

<i>PIK3CA</i>‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

Kim M. Keppler‐Noreuil, Jonathan J. Rios, Victoria Parker et al. · American Journal of Medical Genetics Part A · 2014 · 572 citations · Full text

, , +17

Prevalence, Clinical Significance, and Natural History of Left Ventricular Apical Aneurysms in Hypertrophic Cardiomyopathy

Martin S. Maron, John Finley, J. Martijn Bos et al. · Circulation · 2008 · 563 citations · Full text

, , +13

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers

Aileen Kenneson · Human Molecular Genetics · 2001 · 458 citations

, , +12

Phenotypic Spectrum Caused by Transgenic Overexpression of Activated Akt in the Heart

Takashi Matsui, Ling Li, Justina Wu et al. · Journal of Biological Chemistry · 2002 · 437 citations · Full text

, , +11

1–5 of 687

Authors

7.3K

  1. IE
    Ingrid E. Scheffer

    The University of Melbourne, Australia

    16 publications · 1.3K citations

    16

    h-index

  2. LS
    Lüdger Schöls

    Hertie Institute for Clinical Brain Research, Germany

    11 publications · 792 citations

    11

    h-index

  3. RG
    Renzo Guerrini

    Meyer Children's Hospital, Italy

    10 publications · 900 citations

    10

    h-index

  4. TB
    Tobias B. Haack

    Technical University of Munich, Germany

    9 publications · 492 citations

    9

    h-index

  5. RS
    Rikke S. Møller

    University of Southern Denmark, Denmark

    9 publications · 862 citations

    9

    h-index

1–5 of 7.3K

Institutions

2K

  1. Inserm

    Paris, France

    36 h-index

    296 publications

    20K citations

  2. University College London

    London, United Kingdom

    30 h-index

    215 publications

    19.5K citations

  3. Harvard University

    Cambridge, United States

    28 h-index

    157 publications

    13.3K citations

  4. Radboud University Nijmegen

    Nijmegen, The Netherlands

    28 h-index

    161 publications

    9.8K citations

  5. Assistance Publique – Hôpitaux de Paris

    Paris, France

    27 h-index

    185 publications

    15.6K citations

  6. Radboud University Medical Center

    Nijmegen, The Netherlands

    27 h-index

    154 publications

    9.3K citations

  7. Boston Children's Hospital

    Boston, United States

    26 h-index

    114 publications

    6.1K citations

  8. Massachusetts General Hospital

    Boston, United States

    25 h-index

    124 publications

    8.5K citations

1–8 of 2K

Venues

  1. American Journal of Medical Genetics Part A

    73 publications · 3.1K citations

    29

    h-index

  2. Human Mutation

    22 publications · 1.6K citations

    20

    h-index

  3. Neurology

    21 publications · 2K citations

    19

    h-index

  4. Clinical Genetics

    29 publications · 1.2K citations

    19

    h-index

  5. Journal of Medical Genetics

    JMG · 21 publications · 3K citations

    19

    h-index

1–5