Chelsea Chambers

<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Carla Marini, Alessandro Porro, Agnès Rastetter et al. · Brain · 2018 · 134 citations · Full text

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 · 130 citations · Full text

Review of Commercially Available Epilepsy Genetic Panels

Chelsea Chambers, Laura A. Jansen, Radhika Dhamija · Journal of Genetic Counseling · 2015 · 51 citations · Full text

Genetic Testing, Genetics, Genetic Epidemiology +18

Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern

D.K.B. Armstrong, P.C. Sharpe, Chelsea Chambers et al. · British Journal of Dermatology · 2004 · 28 citations

<i>FBXO28</i> causes developmental and epileptic encephalopathy with profound intellectual disability

Amy Schneider, Candace T. Myers, Alison M. Muir et al. · Epilepsia · 2020 · 22 citations · Full text