AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission
2014 · Journal of Neurodevelopmental Disorders · 109 citations
https://doi.org/10.1186/1866-1955-6-24
R
Roberta Polli
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Roberta Polli is an academic researcher from University of Padua. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Autism Spectrum Disorder Research & Genomic variations and chromosomal abnormalities. The author has an h-index of 20, co-authored 51 publications.
ORCID: 0000-0002-7169-7111Papers by this author
worksCAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
2024 · Genome biology · 54 citations
https://doi.org/10.1186/s13059-023-03113-6
Periventricular heterotopia in fragile X syndrome
2006 · Neurology · 41 citations
https://doi.org/10.1212/01.wnl.0000230223.51595.99
Genetics and mathematics: FMR1 premutation female carriers
2012 · Neuropsychologia · 20 citations
https://doi.org/10.1016/j.neuropsychologia.2012.10.021
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation
2023 · Cells · 6 citations
https://doi.org/10.3390/cells12131711
Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance
2024 · International Journal of Molecular Sciences · 4 citations
https://doi.org/10.3390/ijms252413681
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