Bale, Sherri

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

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 32,594

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

Palmer, C. N. A., Irvine, A. D., Terron-Kwiatkowski, A., Zhao, Y., Liao, H., Lee, S. P., Goudie, D. R., Sandilands, A., Campbell, L. E., Smith, F. J. D., et al. (2006) · Nature Genetics

Dermatology and Skin DiseasesContact Dermatitis and Allergies

Cited by 2,978

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

Richards, C. S., Bale, S., Bellissimo, D. B., Das, S., Grody, W. W., Hegde, M. R., Lyon, E., & Ward, B. E. (2008) · Genetics in Medicine

Genomics and Rare DiseasesClinical Laboratory Practices and Quality Control

Cited by 832

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

Harrison, S. M., Dolinsky, J. S., Knight Johnson, A. E., Pesaran, T., Azzariti, D. R., Bale, S., Chao, E. C., Das, S., Vincent, L., & Rehm, H. L. (2017) · Genetics in Medicine

Genomics and Rare DiseasesClinical Laboratory Practices and Quality Control

Cited by 234

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene

Edvardson, S., Kose, S., Jalas, C., Fattal-Valevski, A., Watanabe, A., Ogawa, Y., Mamada, H., Fedick, A. M., Ben-Shachar, S., Treff, N. R., et al. (2016) · Journal of Medical Genetics

Hereditary Neurological DisordersHeat shock proteins research

Cited by 33