Characterization of a Novel Gene, C21orf2, on Human Chromosome 21q22.3 and Its Exclusion as the APECED Gene by Mutation Analysis

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1994 • 63,397 citations

de la Chapelle, A.

1997 • 3,184 citations

The staden sequence analysis package

1996 • 1,256 citations

The I.M.A.G.E. Consortium: An Integrated Molecular Analysis of Genomes and Their Expression

1996 • 1,132 citations

Clinical Variation of Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED) in a Series of 68 Patients

1990 • 1,041 citations

Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

1996 • 542 citations

Continuum of overlapping clones spanning the entire human chromosome 21q

1992 • 393 citations

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

1994 • 379 citations

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

1997 • 351 citations

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

1994 • 320 citations

Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease.

1994 • 182 citations

Human alpha-L-iduronidase: cDNA isolation and expression.

1991 • 148 citations

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).

1997 • 146 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

Affected-sib-pair analyses reveal support of prior evidence for a susceptibility locus for bipolar disorder, on 21q.

1996 • 124 citations

Genetic homogeneity of autoimmune polyglandular disease type I.

1996 • 117 citations

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

1996 • 113 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

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3

1996 • 100 citations

A Notl restriction map of the entire long arm of human chromosome 21

1993 • 72 citations

Human chromosome 21: genome mapping and exploration, circa 1993

1993 • 72 citations

Isolation and Mapping of Human Chromosome 21 cDNA: Progress in Constructing a Chromosome 21 Expression Map

1994 • 71 citations

An integrated YAC-overlap and ‘cosmid-pocket’ map of the human chromosome 21

1994 • 70 citations

Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries

1995 • 68 citations

A Linkage Map of Human Chromosome 21: 43 PCR Markers at Average Intervals of 2.5 cM

1993 • 62 citations

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

1996 • 56 citations

Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3

1995 • 55 citations

Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene.

1996 • 54 citations

A transcript map of the Down syndrome critical region on chromosome 21

1994 • 51 citations

Cosmid assembly and anchoring to human chromosome 21

1995 • 46 citations

Localization of 102 exons to a 2.5 Mb region involved in Down syndrome

1995 • 40 citations

CDNA selection from 10 Mb of Chromosome 21 DNA: efficiency in transcriptional mapping and reflections of genome organization

1995 • 40 citations

A high-fidelity physical map of human chromosome 21q in yeast artificial chromosomes.

1995 • 35 citations

Physical mapping of chromosome 21.

1993 • 26 citations

Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3

1997 • 22 citations

A 405-kb Cosmid Contig and HindIII Restriction Map of the Progressive Myoclonus Epilepsy Type 1 (EPM1) Candidate Region in 21q22.3

1995 • 19 citations

Cloning the cDNA of HumanPWP2,Which Encodes a Protein with WD Repeats and Maps to 21q22.3

1996 • 12 citations

Sequence-Tagged NotI Sites of Human Chromosome 21: Sequence Analysis and Mapping

1993 • 8 citations

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