Mary‐Alice Abbott

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

The Insulin Receptor Tyrosine Kinase Substrate p58/53 and the Insulin Receptor Are Components of CNS Synapses

Mary‐Alice Abbott, David G. Wells, Justin R. Fallon · Journal of Neuroscience · 1999 · 322 citations · Full text

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 188 citations · Full text

Genetics, Genetic Epidemiology, Pathology +17

<i>GAA</i> variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Arnold Reuser, Ans T. van der Ploeg, Yin‐Hsiu Chien et al. · Human Mutation · 2019 · 104 citations · Full text

Cardiometabolic Risk, Immunodeficiencies, Genetic Epidemiology +21

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Ayman W. El‐Hattab, Teresa A. Smolarek, Martha E. Walker et al. · Human Genetics · 2009 · 77 citations

Engineering, Medicine, Genetics +9