Associated Papers
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
Zorn M et al.
Scientific Reports, 2022
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 2017
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA et al.
Clinical Immunology (orlando, Fla.), 2015
26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S5
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Seifert W et al.
Human Mutation, 2009
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
Seifert W et al.
Journal of Medical Genetics, 2006
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