Concepedia

Hypocalcemia Genetics

Hypocalcemia Genetics is a genetic research framework that identifies and characterizes inherited molecular mechanisms underlying disrupted calcium homeostasis leading to abnormally low serum calcium levels.

81

Publications

6.5K

Citations

471

Authors

208

Institutions

Publications per year

2017–2026

8

Parents

Publications

81

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family

Karl P. Schlingmann, Stefanie Weber, Melanie Peters et al. · Nature Genetics · 2002 · 784 citations

, , +11

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

Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

Roxanne Y. Walder, Daniel Landau, Peter Meyer et al. · Nature Genetics · 2002 · 568 citations

, , +4

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

1–5 of 81

Authors

471

  1. RV
    Rajesh V. Thakker

    University of Oxford, United Kingdom

    11 publications · 1.7K citations

    11

    h-index

  2. FH
    Fadil Hannan

    University of Oxford, United Kingdom

    8 publications · 986 citations

    8

    h-index

  3. MA
    M. Andrew Nesbit

    University of Oxford, United Kingdom

    6 publications · 818 citations

    6

    h-index

  4. GN
    Geoffrey N. Hendy

    McGill University, Canada

    5 publications · 556 citations

    5

    h-index

  5. SH
    Sarah Howles

    University of Oxford, United Kingdom

    5 publications · 782 citations

    5

    h-index

1–5 of 471

Institutions

208

  1. University of Oxford

    Oxford, United Kingdom

    8 h-index

    50 publications

    7.1K citations

  2. University of Toronto

    Toronto, Canada

    6 h-index

    16 publications

    1.3K citations

  3. Churchill Hospital

    Oxford, United Kingdom

    6 h-index

    22 publications

    4.9K citations

  4. McGill University

    Montreal, Canada

    5 h-index

    11 publications

    1.4K citations

  5. Brigham and Women's Hospital

    Boston, United States

    5 h-index

    17 publications

    2.8K citations

  6. Harvard University

    Cambridge, United States

    5 h-index

    18 publications

    3.3K citations

  7. Inserm

    Paris, France

    4 h-index

    12 publications

    219 citations

  8. Heidelberg University

    Heidelberg, Germany

    4 h-index

    6 publications

    2K citations

1–8 of 208

Venues

  1. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 17 publications · 1K citations

    17

    h-index

  2. Nature Genetics

    4 publications · 1.8K citations

    4

    h-index

  3. European Journal of Human Genetics

    EJHG · 4 publications · 313 citations

    4

    h-index

  4. European Journal of Endocrinology

    EJE · 3 publications · 64 citations

    3

    h-index

  5. Clinical Endocrinology

    3 publications · 176 citations

    3

    h-index

1–5