Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
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European journal of human genetics - ISSN 1018-4813- (2024) p.
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients
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Scientific reports - ISSN 2045-2322-14:1 (2024) p. 1-23
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals
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Nature medicine - ISSN 1078-8956-30 (2024) p. 1994-2003
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
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European journal of human genetics - ISSN 1018-4813-32 (2024) p. 928-937
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case
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Acta neuropathologica communications - ISSN 2051-5960-12:1 (2024) p. 1-32