L. Kate Clarkson

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical management of patients with <i>ASXL1</i> mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance

Bianca Russell, Jennifer J. Johnston, Leslie G. Biesecker et al. · American Journal of Medical Genetics Part A · 2015 · 66 citations · Full text

Medicine, Oncology, Pediatrics +16

Unique Cerebrovascular Anomalies in Noonan Syndrome With <i>RAF1</i> Mutation

Yuri A. Zárate, Angie Lichty, Kristen J. Champion et al. · Journal of Child Neurology · 2013 · 28 citations

Medicine, Neurology, Pediatrics +17