Berg, Jonathan S.

ClinGen — The Clinical Genome Resource

Rehm, H. L., Berg, J. S., Brooks, L. D., Bustamante, C. D., Evans, J. P., Landrum, M. J., Ledbetter, D. H., Maglott, D. R., Martin, C. L., Nussbaum, R. L., et al. (2015) · New England Journal of Medicine

Genomics and Rare DiseasesCardiomyopathy and Myosin Studies

Cited by 1,496

Dnmt3a is essential for hematopoietic stem cell differentiation

Challen, G. A., Sun, D., Jeong, M., Luo, M., Jelinek, J., Berg, J. S., Bock, C., Vasanthakumar, A., Gu, H., Xi, Y., et al. (2012) · Nature Genetics

Hematopoietic Stem Cell TransplantationEpigenetics and DNA Methylation

Cited by 1,122

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 625

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Pejaver, V., Byrne, A. B., Feng, B.-J., Pagel, K. A., Mooney, S. D., Karchin, R., O’Donnell-Luria, A., Harrison, S. M., Tavtigian, S. V., Greenblatt, M. S., et al. (2022) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 589

Dnmt3a and Dnmt3b have overlapping and distinct functions in hematopoietic stem cells

Challen, G. A., Sun, D., Mayle, A., Jeong, M., Luo, M., Rodriguez, B., Mallaney, C., Celik, H., Yang, L., Xia, Z., et al. (2014) · Cell Stem Cell

Hematopoietic Stem Cell TransplantationEpigenetics and DNA Methylation

Cited by 354

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

Berg, J. S., Brunetti-Pierri, N., Peters, S. U., Kang, S.-H. L., Fong, C.-T., Salamone, J., Freedenberg, D., Hannig, V. L., Prock, L. A., Miller, D. T., et al. (2007) · Genetics in Medicine

Williams Syndrome ResearchGenomic variations and chromosomal abnormalities

Cited by 193

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

Dhar, S. U., del Gaudio, D., German, J. R., Peters, S. U., Ou, Z., Bader, P. I., Berg, J. S., Blazo, M., Brown, C. W., Graham, B. H., et al. (2010) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 138

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

On behalf of the Brotman Baty Institute Mutational Scanning Working Group, Gelman, H., Dines, J. N., Berg, J., Berger, A. H., Brnich, S., Hisama, F. M., James, R. G., Rubin, A. F., Shendure, J., et al. (2019) · Genome Medicine

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 81