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| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening | PLOS genetics |  | 2009 | 628 | 511 | ||
| Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls | Human mutation |  | 2009 | 417 | 0 | ||
| Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations | Human mutation | | 2008 | 643 | 0 | ||
| DNAI1 mutations explain only 2% of primary ciliary dykinesia | Respiration | | 2008 | 688 | 510 | ||
| Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome | Digestive diseases and sciences | | 2007 | 562 | 425 | ||
| GENCODE: producing a reference annotation for ENCODE | GenomeBiology.com | | 2006 | 612 | 244 | ||
| Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs) | Science | | 2003 | 576 | 0 | ||
| Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia | Proceedings of the National Academy of Sciences of the United States of America | | 2002 | 599 | 0 | ||
| In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis | Blood | | 2002 | 561 | 0 | ||
| Nineteen additional unpredicted transcripts from human chromosome 21 | Genomics | | 2002 | 648 | 0 | ||
| The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro | Human molecular genetics | | 2002 | 592 | 0 | ||
| Physicochemical mechanisms of trace metal bioaccumulation by microorganisms | Chimia | 2002 | 590 | 0 | |||
| Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients | Journal of molecular medicine | | 2002 | 561 | 0 | ||
| Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness | Human mutation | | 2001 | 591 | 1 | ||
| The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family | Human genetics | | 2001 | 542 | 276 | ||
| From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map | Genomics | | 2001 | 563 | 0 | ||
| Frequency of replication/transcription errors in (A)/(T) runs of human genes | Human genetics | | 2001 | 501 | 0 | ||
| Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains | Human genetics | | 2001 | 597 | 0 | ||
| Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness | Nature genetics | | 2001 | 542 | 0 | ||
| Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia | Genomics | | 2001 | 584 | 1 | ||
| No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) | Cytogenetics and cell genetics | | 2000 | 578 | 0 | ||
| Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein | Genomics | | 2000 | 486 | 0 | ||
| 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 | Genomics | | 2000 | 563 | 0 | ||
| Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia | Blood | | 2000 | 513 | 1 | ||
| 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 | Genomics | | 2000 | 462 | 1 | ||
| The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals | Genome research | | 2000 | 495 | 0 | ||
| C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning | Genomics | | 2000 | 575 | 0 | ||
| Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia | Experimental neurology | | 2000 | 526 | 1 | ||
| Mutation analyses of North American APS-1 patients | Human mutation | | 1999 | 591 | 0 | ||
| No Detected Mutations in the Genes for the Amyloid Precursor Protein and Presenilins 1 and 2 in a Swiss Early-Onset Alzheimer's Disease Family with a Dominant Mode of Inheritance | Dementia and geriatric cognitive disorders | | 1999 | 531 | 0 | ||
| A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y | Human genetics | | 1999 | 569 | 0 | ||
| The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations | American journal of human genetics | | 1999 | 537 | 0 | ||
| Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency | Blood | | 1999 | 514 | 0 | ||
| Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) | Human genetics | | 1999 | 609 | 0 | ||
| Isolation and characterization of the mouse Aire gene | Biochemical and biophysical research communications | | 1999 | 562 | 0 | ||
| Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2) | Genomics | | 1998 | 555 | 0 | ||
| Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis | Genomics | | 1998 | 551 | 0 | ||
| Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon | Genomics | | 1998 | 559 | 0 | ||
| Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins | Molecular endocrinology | | 1998 | 546 | 0 | ||
| Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity | American journal of human genetics | | 1998 | 501 | 0 | ||
| Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1 | Human genetics | | 1998 | 488 | 0 | ||
| 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 | Human genetics | | 1998 | 500 | 0 | ||
| Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) | American journal of human genetics | | 1997 | 546 | 0 | ||
| Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region | Genome research | | 1997 | 503 | 0 | ||
| Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3 | Genomics | | 1997 | 556 | 0 | ||
| Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy | Nature | | 1997 | 599 | 0 | ||
| Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3 | Genomics | | 1997 | 556 | 0 | ||
| Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3 | Human genetics | | 1997 | 521 | 0 | ||
| Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3 | Genomics | | 1997 | 594 | 0 | ||
| The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3 | Genomics | | 1996 | 567 | 0 | ||
| Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping | Genome research | | 1996 | 535 | 0 | ||
| Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2 | Genomics | | 1996 | 452 | 0 | ||
| Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3 | American journal of human genetics | | 1996 | 421 | 0 | ||
| Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21 | Genomics | | 1996 | 495 | 0 | ||
| Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3 | Genomics | | 1996 | 495 | 0 | ||
| Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2 | Genomics | | 1995 | 482 | 0 | ||
| Localization of 102 exons to a 2.5 Mb region involved in Down syndrome | Human molecular genetics | 1995 | 552 | 0 | |||
| Single-minded and Down syndrome? | Nature genetics | | 1995 | 521 | 0 |
