Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

2000 • 1,771 citations

The DNA sequence of human chromosome 21

2000 • 1,406 citations

[2] Families of serine peptidases

1994 • 621 citations

The SRCR superfamily: a family reminiscent of the Ig superfamily

1994 • 359 citations

Cloning of the TMPRSS2 Gene, Which Encodes a Novel Serine Protease with Transmembrane, LDLRA, and SRCR Domains and Maps to 21q22.3

1997 • 258 citations

Extrachromosomal circular DNAs and genomic sequence plasticity in eukaryotic cells

1990 • 175 citations

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

1996 • 138 citations

First cysteine-rich repeat in ligand-binding domain of low density lipoprotein receptor binds Ca2+ and monoclonal antibodies, but not lipoproteins.

1987 • 115 citations

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

1996 • 113 citations

Hepsin, a cell membrane-associated protease. Characterization, tissue distribution, and gene localization.

1991 • 112 citations

The fundamental and medical impacts of recent progress in research on hereditary hearing loss

1998 • 100 citations

β satellite DNA: Characterization and localization of two subfamilies from the distal and proximal short arms of the human acrocentric chromosomes

1992 • 86 citations

Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

1993 • 80 citations

Complex β-Satellite Repeat Structures and the Expansion of the Zinc Finger Gene Cluster in 19p12

1998 • 68 citations

Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping.

1996 • 56 citations

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

2001 • 51 citations

Isolation and Characterization of a Human Chromosome 21q22.3 Gene (WDR4) and Its Mouse Homologue That Code for a WD-Repeat Protein

2000 • 49 citations

Molecular cytogenetic characterization of breakpoints involving pericentric inversions of human chromosome 9

1996 • 45 citations

Characterization of Robertsonian translocations by using fluorescence in situ hybridization.

1992 • 44 citations

Contiguous Arrays of Satellites 1, 3, and β Form a 1.5-Mb Domain on Chromosome 22p

1997 • 39 citations

Moving satellites and unstable chromosome translocations: Clinical and cytogenetic implications

1993 • 33 citations

Fragile Sites and Minisatellite Repeat Instability

2000 • 31 citations

Cloning and Characterization of a Putative Human Glycerol 3-Phosphate Permease Gene (SLC37A1 or G3PP) on 21q22.3: Mutation Analysis in Two Candidate Phenotypes, DFNB10 and a Glycerol Kinase Deficiency

2000 • 29 citations

Refined Localization of Autosomal Recessive Nonsyndromic Deafness DFNB10 Locus Using 34 Novel Microsatellite Markers, Genomic Structure, and Exclusion of Six Known Genes in the Region

2000 • 27 citations

Source and Role of Endolymph Macromolecules

1999 • 25 citations

Analysis of human extrachromosomal DNA elements originating from different ?-satellite subfamilies

1993 • 23 citations

Complete nucleotide sequence, origin of isoform and functional characterization of the mouse hepsin gene

1999 • 13 citations

Refined Genetic Mapping of the Autosomal Recessive Non-Syndromic Deafness Locus DFNB8 on Human Chromosome 21q22.3

2000 • 5 citations