Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals
Source
Nature medicine - ISSN 1078-8956- (2024) p.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Source
European journal of human genetics - ISSN 1018-4813- (2024) p. 1-10
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case
Source
Acta neuropathologica communications - ISSN 2051-5960-12:1 (2024) p. 1-32
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome
Source
European journal of human genetics - ISSN 1018-4813-32 (2024) p. 630-638
Identification of a DLG3 stop mutation in the MRX20 family
Source
European journal of human genetics - ISSN 1018-4813-32 (2024) p. 317-323