Christopher M. Watson

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Rim Hjeij, Alexandros Onoufriadis, Christopher M. Watson et al. · The American Journal of Human Genetics · 2014 · 165 citations · Full text

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Christopher M. Watson, Laura A. Crinnion, Ian Berry et al. · BMC Medical Genetics · 2016 · 91 citations · Full text

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

Mahmoud R. Fassad, Mitali Patel, Amelia Shoemark et al. · Journal of Medical Genetics · 2019 · 91 citations

High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

Amelia Shoemark, Eduardo Moya, Robert A. Hirst et al. · Thorax · 2017 · 88 citations · Full text

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

Christine P. Diggle, Stacey J. Sukoff Rizzo, Michael Popiolek et al. · The American Journal of Human Genetics · 2016 · 80 citations · Full text

Biallelic Mutations, Neurological Disorder, Striatal Pde10a +10