• A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study
• An Unbiased Drug Screen for Seizure Suppressors in Duplication 15q Syndrome Reveals 5-HT_1A and Dopamine Pathway Activation as Potential Therapies
• Clinical and molecular delineation of a 16p13.2p13.13 microduplication
• Clinical phenotype and genetic analysis of a patient with a heterozygous 6p25.3 deletion and partial trisomy 15q
• Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities
• Electro-clinical features in epileptic children with chromosome 15q duplication syndrome
• Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders
• Genetic dissection identifies Necdin as a driver gene in a mouse model of paternal 15q duplications
• Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report
• Genomic characterisation of multiple myeloma: study of a Portuguese cohort
• Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na⁺/K⁺ pump ATPα
• Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations
• Maternal 15q Duplication Syndrome
• Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect
• Mosaicism for Robertsonian jumping translocation at amniocentesis: 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY, genetic counseling, prenatal diagnosis and postnatal follow-up in a pregnancy with a favorable fetal outcome
• Parental-reported pain insensitivity in Dup15q
• Partial monosomy of 10p and duplication of another chromosome in two patients
• Prenatal diagnosis of a pure 15q distal trisomy derived from a maternal pericentric inversion: A case report
• Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal
• Prenatal diagnosis of the Dandy-Walker malformation associated with partial trisomy 12p and distal 15q deletion
• Quantitative Gait Analysis in Duplication 15q Syndrome and Nonsyndromic ASD
• Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder
• Relationships among gastrointestinal symptoms, sleep problems, challenging behaviour, comorbid psychopathology and autism spectrum disorder symptoms in children and adolescents with 15q duplication syndrome
• Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons
• Transcriptomic and proteomic profiling of glial versus neuronal Dube3a overexpression reveals common molecular changes in gliopathic epilepsies