Matthew A. Deardorff

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

Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

Sylvia Huisman, Paul A. Mulder, E. Redeker et al. · American Journal of Medical Genetics Part A · 2017 · 97 citations · Full text

Medicine, Genetics, Molecular Genetics +13

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari et al. · Human Mutation · 2015 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

Fan Xia, Matthew N. Bainbridge, Tiong Yang Tan et al. · The American Journal of Human Genetics · 2014 · 69 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Telemedicine for genetic and neurologic evaluation in the neonatal intensive care unit

Tara Wenger, Jeffrey S. Gerdes, Katherine S. Taub et al. · Journal of Perinatology · 2014 · 55 citations · Full text

Medicine, Neurology, Pediatrics +13