Concepedia

Hypercalcemia Genetics

Hypercalcemia Genetics is a genetic research framework that systematically identifies and characterizes hereditary factors and molecular mechanisms underlying dysregulated calcium homeostasis leading to elevated serum calcium levels.

108

Publications

6.9K

Citations

624

Authors

246

Institutions

Publications per year

2017–2026

11

Parents

Publications

108

Mutations in<i>CYP24A1</i>and Idiopathic Infantile Hypercalcemia

Karl P. Schlingmann, Martin Kaufmann, Stefanie Weber et al. · New England Journal of Medicine · 2011 · 684 citations · Full text

, , +17

A Familial Syndrome of Hypocalcemia with Hypercalciuria Due to Mutations in the Calcium-Sensing Receptor

Simon H. S. Pearce, Catherine Williamson, Olga Kifor et al. · New England Journal of Medicine · 1996 · 632 citations · Full text

, , +17

Mutations Affecting G-Protein Subunit α<sub>11</sub>in Hypercalcemia and Hypocalcemia

M. Andrew Nesbit, Fadil Hannan, Sarah Howles et al. · New England Journal of Medicine · 2013 · 403 citations · Full text

, , +17

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

M. Andrew Nesbit, Fadil Hannan, Sarah Howles et al. · Nature Genetics · 2012 · 285 citations · Full text

, , +12

Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.

Hunter Heath, Shannon J. Odelberg, Charles E. Jackson et al. · The Journal of Clinical Endocrinology & Metabolism · 1996 · 183 citations

, , +17

1–5 of 108

Authors

624

  1. RV
    Rajesh V. Thakker

    University of Oxford, United Kingdom

    13 publications · 1.8K citations

    13

    h-index

  2. FH
    Fadil Hannan

    University of Oxford, United Kingdom

    8 publications · 865 citations

    8

    h-index

  3. MA
    M. Andrew Nesbit

    University of Oxford, United Kingdom

    5 publications · 780 citations

    5

    h-index

  4. CM
    Caroline M. Gorvin

    University of Oxford, United Kingdom

    5 publications · 141 citations

    5

    h-index

  5. DE
    David E.C. Cole

    University of Toronto, Canada

    4 publications · 291 citations

    4

    h-index

1–5 of 624

Institutions

246

  1. University of Oxford

    Oxford, United Kingdom

    8 h-index

    54 publications

    7.1K citations

  2. Tel Aviv University

    Tel Aviv, Israel

    6 h-index

    17 publications

    935 citations

  3. Sheba Medical Center

    Ramat Gan, Israel

    6 h-index

    22 publications

    1.5K citations

  4. University of Toronto

    Toronto, Canada

    5 h-index

    9 publications

    765 citations

  5. University Hospital Münster

    Münster, Germany

    5 h-index

    8 publications

    1K citations

  6. Churchill Hospital

    Oxford, United Kingdom

    5 h-index

    20 publications

    4.7K citations

  7. Radboud University Nijmegen

    Nijmegen, The Netherlands

    5 h-index

    19 publications

    2.1K citations

  8. Harvard University

    Cambridge, United States

    5 h-index

    8 publications

    970 citations

1–8 of 246

Venues

  1. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 22 publications · 1.6K citations

    20

    h-index

  2. Pediatric Nephrology

    7 publications · 268 citations

    7

    h-index

  3. Kidney International

    4 publications · 288 citations

    4

    h-index

  4. PubMed

    Repository · 4 publications · 192 citations

    4

    h-index

  5. New England Journal of Medicine

    NEJM · 3 publications · 1.7K citations

    3

    h-index

1–5