David Hunt

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Carol-Anne Martin, Ilyas Ahmad, Anna Klingseisen et al. · Nature Genetics · 2014 · 183 citations

Medicine, Genetics, Molecular Genetics +16

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Distinct functions of kainate receptors in the brain are determined by the auxiliary subunit Neto1

Christoph Straub, David Hunt, Miwako Yamasaki et al. · Nature Neuroscience · 2011 · 129 citations

Life Sciences, Neuroscience, Pharmacology +11

A conformable phased-array ultrasound patch for bladder volume monitoring

Lin Zhang, Colin Marcus, Dabin Lin et al. · Nature Electronics · 2023 · 111 citations

Medicine, Surgery, Urology +14

Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia

Amelia Shoemark, Bruna Rubbo, Marie Legendre et al. · European Respiratory Journal · 2021 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14