Mutation screening of the UBE3A /E6-AP gene in autistic disorder

Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

1994 • 8,662 citations

Austism diagnostic observation schedule: A standardized observation of communicative and social behavior

1989 • 1,944 citations

UBE3A/E6-AP mutations cause Angelman syndrome

1997 • 1,270 citations

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

1997 • 847 citations

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

1997 • 639 citations

Lower Purkinje cell counts in the cerebella of four autistic subjects: initial findings of the UCLA-NSAC Autopsy Research Report

1986 • 580 citations

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons

1997 • 495 citations

Brainstem, cerebellar and limbic neuroanatomical abnormalities in autism

1997 • 394 citations

Hippocampus in autism: a Golgi analysis

1995 • 373 citations

Autism and maternally derived aberrations of chromosome 15q

1998 • 369 citations

Linkage-Disequilibrium Mapping of Autistic Disorder, with 15q11-13 Markers

1998 • 362 citations

The Pre-Linguistic Autism Diagnostic Observation Schedule

1995 • 357 citations

Autism in Angelman syndrome: a population-based study

1996 • 233 citations

Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations

1997 • 204 citations

Duplication of the 15q11‐13 Region in a Patient with Autism, Epilepsy and Ataxia

1994 • 152 citations

Mutation Analysis of UBE3A in Angelman Syndrome Patients

1998 • 150 citations

Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis

1995 • 129 citations

Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

1994 • 128 citations

Brief report: Duplication of chromosome 15q11-13 in two individuals with autistic disorder

1994 • 108 citations

Case Study: Autism Associated with Marker Chromosome

1991 • 103 citations

Intrachromosomal triplication of 15q11-q13.

1994 • 101 citations

Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation

1996 • 77 citations

Genomic Organization of theUBE3A/E6-AP Gene and Related Pseudogenes

1998 • 56 citations

A case of autism associated with partial tetrasomy 15

1995 • 43 citations