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Cathrine Jespersgaard

Copenhagen University Hospital

13

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255

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A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

2020 Investigative Ophthalmology & Visual Science
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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

2019 Scientific Reports
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Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

2019 Clinical Genetics
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Heterozygous Mutations in Gtp-Cyclohydrolase-1 Reduce Bh4 Biosynthesis but Not Pain Sensitivity

2018 Pain
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Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

2018 PLOS Genetics
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A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.

2017 Clinical Genetics
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TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome

2016 Frontiers in Neuroscience
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Cornelia de Lange syndrome

2015 Clinical Genetics
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Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.

2015 Gene
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Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature

2013 American Journal of Medical Genetics Part A
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Citations (8)