Natalie Trump

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

Suzanne Drury, Hywel Williams, Natalie Trump et al. · Prenatal Diagnosis · 2015 · 228 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

Natalie Trump, Amy McTague, Helen Brittain et al. · Journal of Medical Genetics · 2016 · 211 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

Andrea Klein, Suzanne Lillis, Iulia Munteanu et al. · Human Mutation · 2012 · 168 citations

Life Sciences, Molecular Biology, Molecular Genetics +16

Clinical and molecular characterization of <i>KCNT1</i> -related severe early-onset epilepsy

Amy McTague, Umesh Nair, Sony Malhotra et al. · Neurology · 2017 · 141 citations · Full text

Medicine, Genetics, Molecular Genetics +16

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin et al. · Brain · 2020 · 115 citations · Full text

Medicine, Molecular Genetics, Neurology +13