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 · 168 citations

Low Temperature, Molecular Biology, F508del-cftr Rescue +1

<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 · 149 citations · Full text

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 · 101 citations · Full text

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 · 73 citations · Full text

Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +7

‘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 · 51 citations

Empathy, Disability, Mental Health +18