Concepedia

Fgfr2 Mutation Spectrum

FGFR2 Mutation Spectrum is a genetic construct that characterizes the comprehensive array of pathogenic variants within the fibroblast growth factor receptor 2 (FGFR2) gene associated with craniosynostosis syndromes, distinguishing it from other mutation profiles by its specificity to FGFR2-related craniofacial dysostoses.

98

Publications

7.7K

Citations

623

Authors

270

Institutions

Publications per year

2017–2026

16

Parents

Publications

98

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

Andrew O.M. Wilkie, Sarah F. Slaney, Michael Oldridge et al. · Nature Genetics · 1995 · 937 citations

, , +7

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

Ethylin Wang Jabs, Xiang Li, Alan F. Scott et al. · Nature Genetics · 1994 · 472 citations

, , +8

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

Paul Rutland, Louise J. Pulleyn, William Reardon et al. · Nature Genetics · 1995 · 457 citations

, , +7

Infigratinib (BGJ398) in previously treated patients with advanced or metastatic cholangiocarcinoma with FGFR2 fusions or rearrangements: mature results from a multicentre, open-label, single-arm, phase 2 study

Milind Javle, Sameek Roychowdhury, Robin Kate Kelley et al. · ˜The œLancet. Gastroenterology & hepatology · 2021 · 425 citations

, , +13

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes

Pamela M. Pollock, Michael G. Gartside, L C Dejeza et al. · Oncogene · 2007 · 307 citations · Full text

, , +16

1–5 of 98

Authors

623

  1. AO
    Andrew O.M. Wilkie

    University of Oxford, United Kingdom

    8 publications · 2.3K citations

    8

    h-index

  2. EW
    Ethylin Wang Jabs

    Johns Hopkins University, United States

    7 publications · 1.5K citations

    7

    h-index

  3. EL
    Elisabeth Lajeunie

    Inserm, France

    5 publications · 407 citations

    5

    h-index

  4. DS
    Daniela Steinberger

    Justus-Liebig-Universität Gießen, Germany

    5 publications · 191 citations

    5

    h-index

  5. EH
    Elaine H. Zackai

    Children's Hospital of Philadelphia, United States

    5 publications · 632 citations

    5

    h-index

1–5 of 623

Institutions

270

  1. Inserm

    Paris, France

    7 h-index

    25 publications

    1.7K citations

  2. John Radcliffe Hospital

    Oxford, United Kingdom

    7 h-index

    22 publications

    7.2K citations

  3. Boston Children's Hospital

    Boston, United States

    6 h-index

    9 publications

    377 citations

  4. University of Oxford

    Oxford, United Kingdom

    6 h-index

    20 publications

    7K citations

  5. Children's Hospital of Philadelphia

    Philadelphia, United States

    6 h-index

    20 publications

    1.7K citations

  6. University of California, Los Angeles

    Los Angeles, United States

    6 h-index

    32 publications

    2.6K citations

  7. Harvard University

    Cambridge, United States

    5 h-index

    8 publications

    277 citations

  8. KU Leuven

    Leuven, Belgium

    5 h-index

    7 publications

    376 citations

1–8 of 270

Venues

  1. American Journal of Medical Genetics

    8 publications · 434 citations

    8

    h-index

  2. PubMed

    Repository · 7 publications · 769 citations

    7

    h-index

  3. Human Genetics

    6 publications · 342 citations

    6

    h-index

  4. American Journal of Medical Genetics Part A

    6 publications · 136 citations

    6

    h-index

  5. Bone

    4 publications · 396 citations

    4

    h-index

1–5