Frances Elmslie

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome

Lynette G. Sadleir, Emily Mountier, Deepak Gill et al. · Neurology · 2017 · 127 citations · Full text

Medicine, Neurology, Pediatrics +17

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger et al. · The American Journal of Human Genetics · 2016 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits

Daniel Bertrand, Frances Elmslie, Elaine Hughes et al. · Neurobiology of Disease · 2005 · 102 citations · Full text

Life Sciences, Genetics, Neuroscience +14

A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

Paulien A. Terhal, Rutger Jan Nievelstein, Eva J. J. Verver et al. · American Journal of Medical Genetics Part A · 2015 · 98 citations · Full text

Medicine, Orthopaedic Surgery, Orthopedic Surgery +17