AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome
2012 · Genetics in Medicine · 176 citations
https://doi.org/10.1038/gim.2012.34
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Carolyn M. Yrigollen
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Carolyn M. Yrigollen is an academic researcher from Children's Hospital of Philadelphia. 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 21, co-authored 31 publications.
ORCID: 0000-0002-2399-6176Papers by this author
worksAGG 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
Targeted long-read sequencing captures CRISPR editing and AAV integration outcomes in brain
2023 · Molecular Therapy · 42 citations
https://doi.org/10.1016/j.ymthe.2023.01.004
The Role of AGG Interruptions in the Transcription of FMR1 Premutation Alleles
2011 · PLoS ONE · 25 citations
https://doi.org/10.1371/journal.pone.0021728
A family with two female siblings with compound heterozygous <i><scp>FMR1</scp></i> premutation alleles
2013 · Clinical Genetics · 6 citations
https://doi.org/10.1111/cge.12218
FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea
2024 · Reproductive Biology and Endocrinology · 4 citations
https://doi.org/10.1186/s12958-024-01227-5
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