Concepedia

Fgfr3 Mutation Spectrum

FGFR3 Mutation Spectrum is a genetic construct that characterizes the specific range and distribution of pathogenic variants within the fibroblast growth factor receptor 3 (FGFR3) gene associated with craniosynostosis syndromes, distinguishing it by its focus on mutation type, location, and phenotypic correlation within this clinical context.

207

Publications

17.5K

Citations

1.4K

Authors

589

Institutions

Publications per year

2017–2026

42

Parents

Publications

207

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

Francis Rousseau, Jacky Bonaventure, Laurence Legeai‐Mallet et al. · Nature · 1994 · 934 citations

, , +6

Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas

David Cappellen, Catherine De Oliveira, David Ricol et al. · Nature Genetics · 1999 · 705 citations

, , +14

Integrative and Comparative Genomic Analysis of HPV-Positive and HPV-Negative Head and Neck Squamous Cell Carcinomas

Tanguy Y. Seiwert, Zhixiang Zuo, Michaela K. Keck et al. · Clinical Cancer Research · 2014 · 658 citations · Full text

, , +17

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Patricia L. Tavormina, Rita Shiang, Leslie M. Thompson et al. · Nature Genetics · 1995 · 606 citations

, , +14

Frequent FGFR3 Mutations in Papillary Non-Invasive Bladder (pTa) Tumors

C Billerey, Dominique Chopin, Marie‐Hélène Aubriot‐Lorton et al. · American Journal Of Pathology · 2001 · 484 citations

, , +12

1–5 of 207

Authors

1.4K

  1. EC
    Ellen C. Zwarthoff

    Erasmus University Rotterdam, Netherlands

    20 publications · 2.1K citations

    19

    h-index

  2. TV
    Theodorus van der Kwast

    University Health Network, Canada

    18 publications · 2.3K citations

    18

    h-index

  3. FR
    François Radvanyi

    Institut Curie, France

    11 publications · 2.3K citations

    11

    h-index

  4. LL
    Laurence Legeai‐Mallet

    Inserm, France

    10 publications · 1.7K citations

    10

    h-index

  5. FH
    Ferdinand Hofstaedter

    University of Regensburg, Germany

    10 publications · 905 citations

    10

    h-index

1–5 of 1.4K

Institutions

589

  1. Inserm

    Paris, France

    22 h-index

    109 publications

    17.5K citations

  2. University of Regensburg

    Regensburg, Germany

    20 h-index

    73 publications

    5.5K citations

  3. Erasmus MC

    Rotterdam, The Netherlands

    14 h-index

    41 publications

    4.1K citations

  4. Meertens Institute

    Amsterdam, Netherlands

    14 h-index

    39 publications

    5.5K citations

  5. Erasmus University Rotterdam

    Rotterdam, The Netherlands

    12 h-index

    32 publications

    4.6K citations

  6. Centre National de la Recherche Scientifique

    Paris, France

    12 h-index

    60 publications

    18.7K citations

  7. Université Paris Cité

    Paris, France

    11 h-index

    52 publications

    2.9K citations

  8. Institut Curie

    Paris, France

    11 h-index

    44 publications

    8K citations

1–8 of 589

Venues

  1. American Journal of Medical Genetics Part A

    20 publications · 567 citations

    16

    h-index

  2. American Journal of Medical Genetics

    13 publications · 845 citations

    13

    h-index

  3. PubMed

    Repository · 8 publications · 1.5K citations

    8

    h-index

  4. Journal of Clinical Oncology

    7 publications · 456 citations

    7

    h-index

  5. Clinical Cancer Research

    7 publications · 1.2K citations

    7

    h-index

1–5