Amy Calhoun

Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome

Yuri A. Zárate, Constance Smith‐Hicks, Carol L. Greene et al. · American Journal of Medical Genetics Part A · 2018 · 73 citations

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome

Karen S. Ho, Sarah T. South, Amanda Lortz et al. · Journal of Medical Genetics · 2016 · 49 citations · Full text

Biochemical abnormalities in Pearson syndrome

Beatrice Letizia Crippa, Eyby Leon, Amy Calhoun et al. · American Journal of Medical Genetics Part A · 2015 · 38 citations

De novo truncating variants in the <i>AHDC1</i> gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

Hui Yang, Ganka Douglas, Kristin G. Monaghan et al. · Molecular Case Studies · 2015 · 36 citations · Full text

Brain Development, Genetics, Genetic Epidemiology +16

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A&gt;G p.(Tyr89Cys) variant in the <i>ERF</i> gene

Meena Balasubramanian, Helen Lord, Sébastien Levesque et al. · Journal of Medical Genetics · 2016 · 25 citations