The genetics of learning disabilities

Human Homolog of patched , a Candidate Gene for the Basal Cell Nevus Syndrome

1996 • 1,850 citations

Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

1997 • 1,613 citations

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

1995 • 1,197 citations

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

1997 • 847 citations

Prevalence of fragile X syndrome

1996 • 707 citations

Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function

1997 • 670 citations

Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15

1995 • 606 citations

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1995 • 510 citations

The heritability of IQ

1997 • 466 citations

Triplet repeat mutations in human disease

1992 • 417 citations

Unstable DNA sequence in myotonic dystrophy

1992 • 199 citations

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

1990 • 129 citations

Absence of Myotonic Dystrophy Protein Kinase (DMPK) mRNA as a Result of a Triplet Repeat Expansion in Myotonic Dystrophy

1993 • 126 citations

XLMRgenes: Update 1996

1996 • 94 citations

Fragile X syndrome is less common than previously estimated.

1997 • 87 citations

X linked mental retardation.

1991 • 79 citations

Dysregulation of gene expression in mouse trisomy 16, an animal model of Down syndrome.

1992 • 70 citations

Mental Retardation: Genetic Findings, Clinical Implications and Research Agenda

1996 • 61 citations

Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood

1996 • 48 citations

Identification of Candidate Active Site Residues in Lysosomal β-Hexosaminidase A

1997 • 48 citations

Syndromal mental retardation due to mutations in a regulator of gene expression

1995 • 47 citations

Colchester revisited: a genetic study of mental defect.

1977 • 37 citations

The recurrence risks for mild idiopathic mental retardation.

1989 • 31 citations

Treatment of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome reproduced in rats by BM 15.766

1995 • 30 citations

Simultaneous detection and screening of T833C and G919A mutations of the cystathionine β-synthase gene by single-strand conformational polymorphism

1996 • 28 citations

Dynamic mutations on the move.

1993 • 24 citations

The Genetics of Mental Retardation

1994 • 22 citations

PARTIAL DELETION OF SHORT ARM OF A CHROMOSOME OF THE 4‐5 GROUP (DENVER) IN AN ADULT MALE

1965 • 20 citations

Neurofibromatosis type 1 (NF1) gene: Implication in neuroectodermal differentiation and genesis of brain tumors

1991 • 15 citations

X‐linked mental retardation: The early era from 1943 to 1969

1994 • 7 citations

[X-linked mental retardation, fragile X syndrome].

2001 • 4 citations

Genetic mechanisms and mental retardation.

1994 • 4 citations

Diagnosis of Microdeletion Syndromes: High-Resolution Chromosome Analysis Versus Fluorescence In Situ Hybridization

1995 • 3 citations