Emma Miles

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

Life Sciences, Genetics, Molecular Biology +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

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

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

D. Gareth Evans, Naomi L. Bowers, Emma Burkitt‐Wright et al. · EBioMedicine · 2016 · 92 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

Miriam J. Smith, Jill Urquhart, Elaine F. Harkness et al. · Human Mutation · 2015 · 71 citations

Life Sciences, Genetics, Molecular Genetics +17