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

The Cytogenetics of Mammalian Autosomal Rearrangements

1989 • 393 citations

Language, social, and cognitive impairments in autism and severe mental retardation

1981 • 342 citations

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region

1992 • 265 citations

A candidate mouse model for Prader–Willi syndrome which shows an absence of Snrpn expression

1992 • 176 citations

Human behavior and genetics

1982 • 168 citations

Clinical and Molecular Analysis of Five(Inv) Dup(15) Patients

1993 • 136 citations

The association of Angelman's syndrome with deletions within 15q11-13.

1989 • 125 citations

GABA and behavior: The role of receptor subtypes

1992 • 122 citations

The UCLA-University of Utah epidemiologic survey of autism: the etiologic role of rare diseases

1990 • 121 citations

A G‐band study of chromosomes in liveborn infants

1980 • 115 citations

Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15

1977 • 114 citations

Cytogenetic and clinical studies in five cases of inv dup(15)

1979 • 112 citations

Case Study: Autism Associated with Marker Chromosome

1991 • 103 citations

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

1993 • 69 citations

Autism, mental retardation, and chromosomal abnormalities

1986 • 61 citations

Linkage analysis in familial Angelman syndrome.

1993 • 45 citations

Duplication of proximal 15q as a cause of Prader‐Willi syndrome

1987 • 41 citations

Absence of predictable phenotypic expression in proximal 15q duplications

1991 • 33 citations

Duplication in chromosome 15q in a boy with the Prader‐Willi syndrome; further cytogenetic confusion

1984 • 29 citations

Chromosome findings in twins with early‐onset autistic disorder

1989 • 24 citations

EXTRA DICENTRIC 15pter→q21/22 CHROMOSOMES IN FIVE UNRELATED PATIENTS WITH A DISTINCT SYNDROME OF PROGRESSIVE PSYCHOMOTOR RETARDATION, SEIZURES, HYPER‐REACTIVITY AND DERMATOGLYPHIC ABNORMALITIES

1980 • 23 citations

Cytogenetic Survey for Autistic Fragile X Carriers in a Mental Retardation Center.

1990 • 19 citations