Concepedia

Fragile X Premutation

Fragile x premutation is a genetic condition defined by an intermediate expansion of the CGG trinucleotide repeat (typically 55-200 repeats) in the 5' untranslated region of the *FMR1* gene, serving as a key research area investigating its molecular mechanisms, associated clinical phenotypes (such as Fragile X-associated Tremor/Ataxia Syndrome and Fragile X-associated Primary Ovarian Insufficiency), and implications for carrier health and risk of having children with Fragile X Syndrome.

1.7K

Publications

142.3K

Citations

6.7K

Authors

1.5K

Institutions

Publications per year

2017–2026

158

Authors

6.7K

Leading researchers in Fragile X Premutation. Counts cover only their work on this concept, not their overall record.

PublicationsCitationsH-Index
RJ

University of California, Davis

130

10.7K

56

FT

University of California, Davis

79

7.6K

44

ST

Emory University

45

17.3K

40

PJ

University of California, Davis

44

6.1K

36

DL

Baylor College of Medicine

34

10.8K

29

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1–5 of 6.7K

Institutions

1.5K

Leading universities and research organizations in Fragile X Premutation. Counts cover only their work on this concept, not their overall record.

PublicationsCitationsH-Index

470

34.9K

57

Emory University

Atlanta, United States

327

85.6K

56

Howard Hughes Medical Institute

Chevy Chase, United States

195

126.4K

48

Erasmus University Rotterdam

Rotterdam, The Netherlands

223

49.5K

46

Houston, United States

191

84.5K

44

Rows per page

1–5 of 1.5K

Venues

Leading journals and conferences in Fragile X Premutation. Counts cover only their publications on this concept, not their overall record.