Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1987 • 64,270 citations

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

1987 • 45,673 citations

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

Role for DNA methylation in genomic imprinting

1994 • 1,695 citations

Prader-Willi Syndrome: Consensus Diagnostic Criteria

1993 • 1,279 citations

The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

1992 • 1,269 citations

Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome

1989 • 887 citations

Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome

1981 • 615 citations

Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

1989 • 575 citations

Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.

1993 • 537 citations

Epigenetic mechanisms underlying the imprinting of the mouse H19 gene.

1993 • 493 citations

Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents.

1990 • 408 citations

Uniparental paternal disomy in Angelman's syndrome

1991 • 332 citations

Removal of repeated sequences from hybridisation probes

1985 • 293 citations

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

1991 • 271 citations

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

1992 • 265 citations

Physical linkage of two mammalian imprinted genes, H19 and insulin–like growth factor 2

1992 • 261 citations

The Frequency of Uniparental Disomy in Prader-Willi Syndrome

1992 • 260 citations

Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader–Willi syndrome region

1992 • 243 citations

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

1994 • 219 citations

A DNA methylation imprint, determined by the sex of the parent, distinguishes the angelman and Prader-Willi syndromes

1992 • 212 citations

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

1992 • 203 citations

Genome analysis, a practical approach

1989 • 183 citations

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

1992 • 176 citations

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.

1991 • 169 citations

Maternal imprinting of human SNRPN, a gene deleted in Prader–Willi syndrome

1994 • 163 citations

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis

1992 • 160 citations

Functional imprinting and epigenetic modification of the human SNRPN gene

1993 • 158 citations

Construction of yeast artificial chromosome libraries with large inserts using fractionation by pulsed-field gel electrophoresis

1989 • 157 citations

Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients

1993 • 142 citations

Genome analysis : a practical approach

1988 • 142 citations

Imprinting analysis of three genes in the Prader — Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E)

1994 • 123 citations

Maternal but not paternal transmission of 15q11–13–linked nondeletion Angelman syndrome leads to phenotypic expression

1992 • 100 citations

Tissue-specific expression and cDNA cloning of small nuclear ribonucleoprotein-associated polypeptide N.

1988 • 98 citations

DNA deletion and its parental origin in Angelman syndrome patients

1991 • 98 citations

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11–q13) and refined localization of the SNRPN gene

1993 • 94 citations

A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B′

1989 • 68 citations

Primary Structure of a Human Small Nuclear Ribonucleoprotein Polypeptide as Deduced by cDNA Analysis

1989 • 62 citations

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

1992 • 51 citations

The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons.

1992 • 51 citations

Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis.

1989 • 47 citations

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

1987 • 41 citations

Further evidence for dominant inheritance at the chromosome 15q11‐13 locus in familial angelman syndrome

1992 • 30 citations

Prader‐Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13

1992 • 24 citations

PCR amplification and analysis of yeast artificial chromosomes

1992 • 10 citations