Thomas Cullup

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

David P. Kelsell, Elizabeth E. Norgett, H Unsworth et al. · The American Journal of Human Genetics · 2005 · 356 citations · Full text

Life Sciences, Dermatology, Genetics +11

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici et al. · Nature Genetics · 2012 · 280 citations

Life Sciences, Genetics, Molecular Genetics +14

<i>RYR1</i> mutations are a common cause of congenital myopathies with central nuclei

Jo M. Wilmshurst, Suzanne Lillis, Haiyan Zhou et al. · Annals of Neurology · 2010 · 266 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Chiara Olcese, Mitali Patel, Amelia Shoemark et al. · Nature Communications · 2017 · 151 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Lorenzo Maggi, Mariacristina Scoto, Sebahattin Çirak et al. · Neuromuscular Disorders · 2013 · 147 citations

Medicine, Pathology, Pediatrics +8