Fiona Stewart

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Benefits of Incentives for Breastfeeding and Smoking cessation in pregnancy (BIBS): a mixed-methods study to inform trial design

Heather Morgan, Pat Hoddinott, Gill Thomson et al. · Health Technology Assessment · 2015 · 107 citations · Full text

Public Health, Health Promotion, Maternal Health +17

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

Christian J. Hendriksz, Rossella Parini, Moeenaldeen AlSayed et al. · Molecular Genetics and Metabolism · 2016 · 69 citations · Full text

Pharmacy, Pharmacology, Pharmacotherapy +14