Sarah Hull
Antrim Area Hospital(GB)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Ubiquitin and proteasome pathways, Genetic and Kidney Cyst Diseases, Connexins and lens biology
Most-Cited Works
- → Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease(2016)478 cited
- → Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups(2016)299 cited
- → Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa(2016)130 cited
- → Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes(2014)121 cited
- → Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm(2013)91 cited
- → The Phenotypic Variability of Retinal Dystrophies Associated With Mutations in CRX, With Report of a Novel Macular Dystrophy Phenotype(2014)76 cited
- → Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration(2017)76 cited
- → Molecular and Clinical Findings in Patients With Knobloch Syndrome(2016)65 cited
- → Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy(2015)64 cited
- → GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies(2019)61 cited