Richard Sandford

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 484 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The next 25 years?: future scenarios and future directions for education and technology

Keri Facer, Richard Sandford · Journal of Computer Assisted Learning · 2010 · 136 citations · Full text

Education, Educational Technology, Education Reform +9

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

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery, Mike L. Smith, Aarnoud Huissoon et al. · Scientific Reports · 2018 · 90 citations · Full text

Life Sciences, Cell Biology, Genetics +11