Associated Papers
A Novel Epilepsy Phenotype in a Young Girl With a Pathogenic SETD5 Gene Variant.
Alessi D et al.
Journal of Child Neurology, 2025
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.
De Falco A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.
Shangguan H et al.
European Journal of Pediatrics, 2024
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36993157 (PubMed )
Supplement: media-2.xlsx › eTable_5
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Spataro N et al.
Genes, 2023
36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Arisaka A et al.
Epilepsy & Behavior Reports, 2021
Genetic variations on SETD5 underlying autistic conditions.
Fernandes IR et al.
Developmental Neurobiology, 2018
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
Powis Z et al.
Clinical Genetics, 2018
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
Kobayashi Y et al.
Brain & Development, 2016
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