Sherri J. Bale
Publications by Year
Research Areas
Skin and Cellular Biology Research, Hedgehog Signaling Pathway Studies, Genomics and Rare Diseases, Genetic and rare skin diseases., Cutaneous Melanoma Detection and Management
Most-Cited Works
- → Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology(2015)31,150 cited
- → Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis(2006)2,920 cited
- → Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics(2016)1,687 cited
- → Clinical application of whole-exome sequencing across clinical indications(2015)1,051 cited
- → Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris(2006)1,026 cited
- → Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome(1997)940 cited
- → ACMG clinical laboratory standards for next-generation sequencing(2013)914 cited
- → ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007(2008)821 cited
- → ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)(2021)550 cited
- → Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish(1989)442 cited