Kaur, Maninder

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Krantz, I. D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L. A., Yaeger, D., Jukofsky, L., Wasserman, N., Bottani, A., Morris, C. A., et al. (2004) · Nature Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 713

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Deardorff, M. A., Bando, M., Nakato, R., Watrin, E., Itoh, T., Minamino, M., Saitoh, K., Komata, M., Katou, Y., Clark, D., et al. (2012) · Nature

Genomics and Chromatin DynamicsDNA Repair Mechanisms

Cited by 577

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Braunholz, D., Hullings, M., Gil-Rodríguez, M. C., Fincher, C. T., Mallozzi, M. B., Loy, E., Albrecht, M., Kaur, M., Limon, J., Rampuria, A., et al. (2012) · European Journal of Human Genetics

Genomics and Rare DiseasesDNA Repair Mechanisms

Cited by 33

Characterization of DNA methylation and its association with other biological systems in lymphoblastoid cell lines

Zhang, Z., Liu, J., Kaur, M., & Krantz, I. D. (2012) · Genomics

Epigenetics and DNA MethylationGenomics and Chromatin Dynamics

Cited by 18