Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish.
Zhang R et al.
Journal of Human Genetics, 2024
The Rac-GAP alpha2-Chimaerin Signals via CRMP2 and Stathmins in the Development of the Ocular Motor System.
Carretero-Rodriguez L et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021
Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.
Zhou TC et al.
Scientific Reports, 2020
Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.
Whitman MC et al.
Human Molecular Genetics, 2017
Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome.
Nugent AA et al.
The Journal of Clinical Investigation, 2017
Expansion of the CHN1 strabismus phenotype.
Miyake N et al.
Investigative Ophthalmology & Visual Science, 2011
Two novel CHN1 mutations in 2 families with Duane retraction syndrome.
Chan WM et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2011
Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.
Murillo-Correa CE et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2009
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
Miyake N et al.
Science (new York, N.y.), 2008
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