Ian D. Krantz

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

Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato et al. · Nature · 2012 · 576 citations · Full text

Life Sciences, Genetics, Molecular Biology +8

Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger et al. · The American Journal of Human Genetics · 2007 · 522 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Kosuke Izumi, Ryuichiro Nakato, Zhe Zhang et al. · Nature Genetics · 2015 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies

Bin Zhang, Jufang Chang, Ming Fu et al. · PLoS ONE · 2009 · 89 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

Characterization of limb differences in children with Cornelia de Lange Syndrome

Devanshi Mehta, Samantha A. Schrier Vergano, Matthew A. Deardorff et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2016 · 38 citations

Medicine, Human Development, Molecular Genetics +15