Associated Papers
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Middle_priority
RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex.
Wu Q et al.
Molecular Brain, 2016
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.
Handley MT et al.
Open Biology, 2015
Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Gillespie RL et al.
Ophthalmology, 2014
Rab18 and a Rab18 GEF complex are required for normal ER structure.
Gerondopoulos A et al.
The Journal of Cell Biology, 2014
The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens.
Gillespie RL et al.
Human Heredity, 2014
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Bem D et al.
American Journal of Human Genetics, 2011
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