Jonathan Williams

Revertants, Low Temperature, and Correctors Reveal the Mechanism of F508del-CFTR Rescue by VX-809 and Suggest Multiple Agents for Full Correction

Carlos M. Farinha, John King-Underwood, Marisa Sousa et al. · Chemistry & Biology · 2013 · 169 citations

Medicine, Genetics, Molecular Genetics +5

<i>De novo</i>point mutations in patients diagnosed with ataxic cerebral palsy

Ricardo Parolin Schnekenberg, Emma Perkins, Jack W. Miller et al. · Brain · 2015 · 150 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Hannah Sleven, Seth J. Welsh, Jing Yu et al. · The American Journal of Human Genetics · 2016 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

‘Finding the person you really are … on the inside’: Compassion focused therapy for adults with intellectual disabilities

Neil Clapton, Jonathan Williams, Gemma M. Griffith et al. · Journal of Intellectual Disabilities · 2017 · 55 citations

Education, Psychology, Disability +15