Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains

Basic local alignment search tool

1990 • 87,358 citations

The Pfam protein families database.

2002 • 14,298 citations

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

The DNA sequence of human chromosome 21

2000 • 1,406 citations

The staden sequence analysis package

1996 • 1,256 citations

A mouse model for Down syndrome exhibits learning and behaviour deficits

1995 • 891 citations

A high-density genome scan detects evidence for a bipolar-disorder susceptibility locus on 13q32 and other potential loci on 1q32 and 18p11.2

1999 • 399 citations

The UBA domain: a sequence motif present in multiple enzyme classes of the ubiquitination pathway

1996 • 397 citations

A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3

1994 • 320 citations

hSP, the domain-duplicated homolog of pS2 protein, is co-expressed with pS2 in stomach but not in breast carcinoma.

1990 • 222 citations

One-megabase sequence analysis of the human immunoglobulin lambda gene locus.

1997 • 209 citations

Human BAC library: construction and rapid screening

1997 • 179 citations

Structure and function of the SH3 domain

1994 • 168 citations

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

1995 • 146 citations

Autosomal Recessive Non-Syndromic Deafness Locus (DFNB8) Maps on Chromosome 21Q22 in a Large Consanguineous Kindred from Pakistan

1996 • 138 citations

Immune Dysfunction in Down's Syndrome: Primary Immune Deficiency or Early Senescence of the Immune System?

1996 • 131 citations

Structure of a human DNA repair protein UBA domain that interacts with HIV-1 Vpr

1998 • 127 citations

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

1996 • 113 citations

A Comprehensive Linkage Analysis of Chromosome 21q22 Supports Prior Evidence for a Putative Bipolar Affective Disorder Locus

1999 • 110 citations

Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3.

1996 • 106 citations

Regulatory Role of SH3 Domain-mediated Protein–Protein Interactions in Synaptic Vesicle Endocytosis

1999 • 103 citations

Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome.

1995 • 100 citations

Isolation and characterization of a mammalian homolog of the Drosophila white gene

1997 • 96 citations

Two-Locus Admixture Linkage Analysis of Bipolar and Unipolar Affective Disorder Supports the Presence of Susceptibility Loci on Chromosomes 11p15 and 21q22

1997 • 93 citations

Cloning of a Gene Expressed in Human Breast Cancer and Regulated by Estrogen in MCF-7 Cells

1985 • 82 citations

Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene ( PDE9A ) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence

1998 • 64 citations

Molecular Cloning and Characterization of the Human Mitochondrial NADH:Oxidoreductase 10-kDa Gene (NDUFV3)

1997 • 33 citations

The difficulty of identifying genes in anonymous vertebrate sequences

1997 • 28 citations

Chromosome 21 workshop

1998 • 18 citations