Concepedia

Methylation Defect Disorders

Methylation Defect Disorders is a neurogenetic disorder characterized by aberrant DNA methylation patterns that disrupt gene expression and genomic imprinting, leading to neurological and developmental impairments.

103

Publications

13.2K

Citations

1K

Authors

406

Institutions

Publications per year

2017–2026

24

Variants

Dna Methylation Disorders

Parents

Publications

103

Targeted mutation of the DNA methyltransferase gene results in embryonic lethality

En Li, Timothy H. Bestor, Rudolf Jaenisch · Cell · 1992 · 4K citations

, , +14

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

I. Oberlé, F. Rousseau, Dominique Heitz et al. · Science · 1991 · 1.5K citations

, , +16

NSun2-Mediated Cytosine-5 Methylation of Vault Noncoding RNA Determines Its Processing into Regulatory Small RNAs

Shobbir Hussain, Abdulrahim A. Sajini, Sandra Blanco et al. · Cell Reports · 2013 · 606 citations · Full text

, , +13

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

Richard J. Gibbons, Tarra L. McDowell, Sundhya Raman et al. · Nature Genetics · 2000 · 492 citations

, , +14

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

Katrina Tatton‐Brown, Sheila Seal, Elise Ruark et al. · Nature Genetics · 2014 · 362 citations · Full text

, , +16

1–5 of 103

Authors

1K

  1. AL
    Agnès Linglart

    Assistance Publique – Hôpitaux de Paris, France

    4 publications · 279 citations

    4

    h-index

  2. IK
    I. Karen Temple

    University of Southampton, United Kingdom

    4 publications · 518 citations

    4

    h-index

  3. GM
    Giovanna Mantovani

    University of Milan, Italy

    4 publications · 191 citations

    4

    h-index

  4. MF
    Maki Fukami

    National Center For Child Health and Development, Japan

    3 publications · 48 citations

    3

    h-index

  5. IN
    Irène Netchine

    Inserm, France

    3 publications · 143 citations

    3

    h-index

1–5 of 1K

Institutions

406

  1. Inserm

    Paris, France

    12 h-index

    71 publications

    16.1K citations

  2. Harvard University

    Cambridge, United States

    8 h-index

    21 publications

    4.9K citations

  3. Assistance Publique – Hôpitaux de Paris

    Paris, France

    7 h-index

    29 publications

    1.8K citations

  4. University of Milan

    Milan, Italy

    5 h-index

    18 publications

    821 citations

  5. Centre National de la Recherche Scientifique

    Paris, France

    5 h-index

    19 publications

    11.2K citations

  6. Hôpital Necker-Enfants Malades

    Paris, France

    5 h-index

    29 publications

    1.8K citations

  7. Massachusetts General Hospital

    Boston, United States

    5 h-index

    11 publications

    708 citations

  8. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

    Milan, Italy

    5 h-index

    12 publications

    587 citations

1–8 of 406

Venues

  1. American Journal of Medical Genetics Part A

    9 publications · 326 citations

    9

    h-index

  2. Human Molecular Genetics

    7 publications · 618 citations

    7

    h-index

  3. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 5 publications · 251 citations

    5

    h-index

  4. The American Journal of Human Genetics

    AJHG · 5 publications · 907 citations

    5

    h-index

  5. Clinical Epigenetics

    4 publications · 151 citations

    4

    h-index

1–5