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Maladies Rares: Génétique et Métabolisme

MR

Statistics

Publications

490

Citations

44.1K

Authors

18

Location

Bordeaux, France

Also known as MRGM · Laboratoire Maladies Rares: Génétique et Métabolisme · Rare Diseases: Genetics and Metabolism · UMR1211

Maladies Rares: Génétique et Métabolisme is a facility institution in Bordeaux, France known for life sciences, genetics, and genetic disorders.

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Publications

490

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 480 citations · Full text

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 334 citations · Full text

, , +16

PML-Regulated Mitochondrial Metabolism Enhances Chemosensitivity in Human Ovarian Cancers

Géraldine Gentric, Yann Kieffer, Virginie Mieulet et al. · Cell Metabolism · 2018 · 300 citations · Full text

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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Debra D’Angelo, Sébastien Lebon, Qixuan Chen et al. · JAMA Psychiatry · 2015 · 296 citations · Full text

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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 273 citations · Full text

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1–5 of 490

Authors

18

  1. AT
    Angèle Tingaud‐Sequeira

    Maladies Rares: Génétique et Métabolisme, France

    48 publications · 1.7K citations

    24

    h-index

  2. RL
    Romain Lanchon

    Maladies Rares: Génétique et Métabolisme, France

    14 publications · 409 citations

    6

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  3. IS
    Ilka Scharkin

    Maladies Rares: Génétique et Métabolisme, France

    8 publications · 73 citations

    5

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  4. MR
    M. Rué

    Maladies Rares: Génétique et Métabolisme, France

    13 publications · 173 citations

    5

    h-index

  5. EM
    Elina Mercier

    Maladies Rares: Génétique et Métabolisme, France

    17 publications · 46 citations

    4

    h-index

1–5 of 18