Expanded clinical phenotype of women with the <i>FMR1</i> premutation
2008 · American Journal of Medical Genetics Part A · 348 citations
https://doi.org/10.1002/ajmg.a.32060
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Sarah M. Coffey
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Sarah M. Coffey is an academic researcher from Rocky Mountain Biological Laboratory. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Autism Spectrum Disorder Research & Genetic Neurodegenerative Diseases. The author has an h-index of 13, co-authored 17 publications.
Papers by this author
worksA Review of Fragile X Premutation Disorders
2009 · The Journal of Clinical Psychiatry · 165 citations
https://doi.org/10.4088/jcp.08m04476
Recommendations from Multi‐disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X‐associated Disorders
2007 · Journal of Genetic Counseling · 77 citations
https://doi.org/10.1007/s10897-007-9099-y
Clinical and Neuropathologic Findings in a Woman With the FMR1 Premutation and Multiple Sclerosis
2008 · Archives of Neurology · 75 citations
https://doi.org/10.1001/archneur.65.8.1114
FMR1 premutation in females diagnosed with multiple sclerosis
2009 · Journal of Neurology Neurosurgery & Psychiatry · 70 citations
https://doi.org/10.1136/jnnp.2008.160960
Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X
2012 · PEDIATRICS · 40 citations
https://doi.org/10.1542/peds.2012-0693
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