Philip L. Beales

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

Lamia Mestek, Emma Clement, Wendy D. Jones et al. · Journal of Medical Genetics · 2018 · 129 citations · Full text

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

Miriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina et al. · The American Journal of Human Genetics · 2013 · 122 citations · Full text

Genetic Disorder, Genetics, Degenerative Disease +4

Combined exome and whole-genome sequencing identifies mutations in <i>ARMC4</i> as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Alexandros Onoufriadis, Amelia Shoemark, Mustafa M. Munye et al. · Journal of Medical Genetics · 2013 · 91 citations · Full text

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

Alexandros Onoufriadis, Amelia Shoemark, Miriam Schmidts et al. · Human Molecular Genetics · 2014 · 85 citations · Full text

Engineering, Common Mechanism, Genetics +18

An enzyme-linked immunosorbent assay (ELISA) for quantification of human collectin 11 (CL-11, CL-K1)

Lana Selman, Maiken L. Henriksen, Jette Brandt et al. · Journal of Immunological Methods · 2011 · 57 citations · Full text

Laboratory Immunology, Collectin Kidney 1, Immunodeficiencies +20