Sarah Hull

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

David A. Parfitt, Amelia Lane, Conor M. Ramsden et al. · Cell stem cell · 2016 · 297 citations · Full text

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Gavin Arno, Smriti A. Agrawal, Aiden Eblimit et al. · The American Journal of Human Genetics · 2016 · 129 citations · Full text

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Robert B. Hufnagel, Gavin Arno, Nichole D. Hein et al. · Journal of Medical Genetics · 2014 · 120 citations · Full text

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