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| Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling | PLOS genetics | | | 2014 | 737 | 347 |
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| Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations | Nature communications | | | 2014 | 658 | 249 |
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| Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity | European journal of human genetics | | | 2013 | 660 | 516 |
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| TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm | Retrovirology | | | 2013 | 628 | 423 |
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| Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia | American journal of human genetics | | | 2013 | 597 | 0 |
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| Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus | European journal of human genetics | | | 2012 | 655 | 0 |
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| Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma | Nature genetics | | | 2012 | 699 | 3 |
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| Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing | The Journal of biological chemistry | | | 2011 | 562 | 0 |
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| DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome | American journal of human genetics | | | 2008 | 657 | 0 |
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| Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1 | American journal of human genetics | | | 2007 | 673 | 0 |
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| Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes | American journal of human genetics | | | 2007 | 727 | 0 |
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| DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects | American journal of respiratory and critical care medicine | | | 2006 | 705 | 0 |
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| Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34 | American journal of human genetics | | | 2006 | 661 | 0 |
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| LRP5 gene polymorphisms and idiopathic osteoporosis in men | Bone | | | 2005 | 609 | 0 |
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| Evolutionary comparison provides evidence for pathogenicity of RMRP mutations | PLOS genetics | | | 2005 | 651 | 557 |
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| Conserved non-genic sequences - an unexpected feature of mammalian genomes | Nature reviews. Genetics | | | 2005 | 581 | 0 |
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| Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling | Molecular genetics and genomics | | | 2005 | 617 | 510 |
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| L'apport de la génétique moléculaire en cardiologie clinique : l'exemple de la cardiomyopathie hypertrophique | Revue médicale suisse | | | 2005 | 587 | 1 |
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| Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor | Clinical pharmacology and therapeutics | | | 2005 | 646 | 0 |
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| Gene finding in the chicken genome | BMC bioinformatics | | | 2005 | 680 | 328 |
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| Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes | Nucleic acids research | | | 2005 | 601 | 0 |
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| Report on the 'Expert Workshop on the Biology of Chromosome 21: towards gene-phenotype correlations in Down syndrome', held June 11-14, 2004, Washington D.C | Cytogenetic and genome research | | | 2005 | 595 | 0 |
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| COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome | Nature neuroscience | | | 2005 | 561 | 0 |
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| Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases | The Journal of biological chemistry | | | 2005 | 673 | 0 |
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| A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein | Human genetics | | | 2005 | 719 | 436 |
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| The human sugar-phosphate/phosphate exchanger family SLC37 | Pflügers Archiv | | | 2004 | 619 | 0 |
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| A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q | Annals of neurology | | | 2004 | 649 | 0 |
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| Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin | Human mutation | | | 2004 | 694 | 0 |
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| Association of the connexin36 gene with juvenile myoclonic epilepsy | Journal of medical genetics | | | 2004 | 625 | 0 |
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| Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome | Genome research | | | 2004 | 589 | 0 |
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| Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites | American journal of human genetics | | | 2004 | 591 | 0 |
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| Chromosome 21 and down syndrome: from genomics to pathophysiology | Nature reviews. Genetics | | | 2004 | 811 | 0 |
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| The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3 | Human molecular genetics | | | 2004 | 616 | 0 |
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| Detection of aneuploidies by paralogous sequence quantification | Journal of medical genetics | | | 2004 | 545 | 0 |
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| The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development | Genomics | | | 2004 | 602 | 0 |
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| No association between DUP25 and anxiety disorders | American journal of medical genetics. Part B, Neuropsychiatric genetics | | | 2004 | 657 | 0 |
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| Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment | Genome research | | | 2004 | 627 | 0 |
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| Genetic variability of mu-opioid receptor in an obstetric population | Anesthesiology | | | 2004 | 495 | 0 |
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| Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome | Blood | | | 2003 | 680 | 0 |
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| Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes | Proceedings of the National Academy of Sciences of the United States of America | | | 2003 | 692 | 0 |
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| Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling | Biochimica et biophysica acta | | | 2003 | 665 | 0 |
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| Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12 | Gene | | | 2003 | 665 | 0 |
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| Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder | American journal of human genetics | | | 2003 | 673 | 4 |
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| The TPTE gene family: cellular expression, subcellular localization and alternative splicing | Gene | | | 2003 | 735 | 0 |
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| The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion | Cytogenetic and genome research | | | 2003 | 601 | 0 |
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| Mutation nomenclature | Current protocols in human genetics | | | 2003 | 641 | 0 |
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| Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers | American journal of medical genetics. Part B, Neuropsychiatric genetics | | | 2003 | 576 | 1 |
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| Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs) | Science | | | 2003 | 657 | 0 |
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| Trapping and sequence analysis of 1138 putative exons from human chromosome 18 | Molecular psychiatry | | | 2003 | 572 | 0 |
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| Chromosome 21 and Down syndrome: the post-sequence era | Cold Spring Harbor Symposia on Quantitative Biology | | | 2003 | 588 | 0 |
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| Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome | Human genetics | | | 2003 | 571 | 0 |
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| DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg | Human mutation | | | 2003 | 641 | 0 |
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| FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients | American journal of medical genetics. Part A | | | 2003 | 762 | 0 |
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| Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia | American journal of human genetics | | | 2003 | 582 | 1 |
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| A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 | Human molecular genetics | | | 2003 | 675 | 0 |
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| Numerous potentially functional but non-genic conserved sequences on human chromosome 21 | Nature | | | 2002 | 621 | 0 |
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| 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 | 681 | 0 |
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| 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 | 672 | 0 |
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| Chromosome 21: a small land of fascinating disorders with unknown pathophysiology | The International journal of developmental biology | | | 2002 | 567 | 0 |
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| Nineteen additional unpredicted transcripts from human chromosome 21 | Genomics | | | 2002 | 751 | 0 |
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| Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2 | Cytogenetic and genome research | | | 2002 | 557 | 0 |
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| Language skills in children with velocardiofacial syndrome (deletion 22q11.2) | The Journal of pediatrics | | | 2002 | 620 | 0 |
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| Initial sequencing and comparative analysis of the mouse genome | Nature | | | 2002 | 818 | 6 |
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| Human chromosome 21 gene expression atlas in the mouse | Nature | | | 2002 | 637 | 0 |
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| The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro | Human molecular genetics | | | 2002 | 666 | 0 |
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| Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors | Human genetics | | | 2002 | 601 | 1 |
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| A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects | Genomics | | | 2002 | 587 | 2 |
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| Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients | Journal of molecular medicine | | | 2002 | 689 | 0 |
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| Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness | Human mutation | | | 2001 | 669 | 1 |
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| Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP | Nature cell biology | | | 2001 | 653 | 0 |
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| The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family | Human genetics | | | 2001 | 623 | 408 |
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| Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness | Journal of medical genetics | | | 2001 | 578 | 0 |
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| Prise en charge multidisciplinaire du cancer colorectal héréditaire | Swiss surgery | | | 2001 | 880 | 0 |
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| APECED mutations in the autoimmune regulator (AIRE) gene | Human mutation | | | 2001 | 553 | 0 |
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| Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes | Human genetics | | | 2001 | 630 | 0 |
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| A cSNP map and database for human chromosome 21 | Genome research | | | 2001 | 535 | 0 |
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| From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map | Genomics | | | 2001 | 646 | 0 |
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| An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree | European journal of human genetics | | | 2001 | 704 | 0 |
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| BACking up the promises | Nature genetics | | | 2001 | 553 | 0 |
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| Frequency of replication/transcription errors in (A)/(T) runs of human genes | Human genetics | | | 2001 | 571 | 0 |
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| Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains | Human genetics | | | 2001 | 664 | 0 |
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| Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome | Cytogenetics and cell genetics | | | 2001 | 647 | 0 |
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| Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness | Nature genetics | | | 2001 | 657 | 0 |
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| Differential gene expression studies to explore the molecular pathophysiology of Down syndrome | European journal of pediatrics | | | 2001 | 610 | 0 |
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| Nomenclature for the description of human sequence variations | Human genetics | | | 2001 | 984 | 0 |
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| Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia | Genomics | | | 2001 | 654 | 1 |
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| Chromosome 21: from sequence to applications | Current opinion in genetics & development | | | 2001 | 581 | 0 |
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| Isolation and initial characterization of the mouse Dnmt3l gene | Cytogenetics and cell genetics | | | 2001 | 524 | 0 |
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| Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study | Archives of general psychiatry | | | 2001 | 571 | 0 |
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| Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome | Human molecular genetics | | | 2000 | 637 | 0 |
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| Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21 | Human genetics | | | 2000 | 641 | 333 |
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| No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) | Cytogenetics and cell genetics | | | 2000 | 689 | 0 |
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| RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse | European Journal of Immunology | | | 2000 | 619 | 0 |
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| Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein | Genomics | | | 2000 | 564 | 0 |
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| Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family | Genomics | | | 2000 | 675 | 0 |
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| Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes | European child & adolescent psychiatry | | | 2000 | 665 | 0 |
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| Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: schizophrenia linkage collaborative group III | American journal of human genetics | | | 2000 | 641 | 0 |
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| Mutations in GJB6 cause hidrotic ectodermal dysplasia | Nature genetics | | | 2000 | 551 | 0 |
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| Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion | Human mutation | | | 2000 | 514 | 0 |
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| 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 | 628 | 0 |
|
| The DNA sequence of human chromosome 21 | Nature | | | 2000 | 1,381 | 3 |
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| Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia | Blood | | | 2000 | 602 | 1 |
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| 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 | 547 | 1 |
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| The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein | The Journal of biological chemistry | | | 2000 | 653 | 0 |
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| 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 | 585 | 0 |
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| Disease-causing mutations in the human genome | European journal of pediatrics | | | 2000 | 583 | 0 |
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| Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping | European journal of human genetics | | | 2000 | 618 | 0 |
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| Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes | Molecular psychiatry | | | 2000 | 663 | 0 |
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| OMIM passes the 1,000-disease-gene mark | Nature genetics | | | 2000 | 623 | 0 |
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| C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning | Genomics | | | 2000 | 653 | 0 |
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| Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity | European journal of human genetics | | | 2000 | 657 | 0 |
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| Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3 | Advances in oto-rhino-laryngology | | | 2000 | 508 | 0 |
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| Patterns of meiotic recombination on the long arm of human chromosome 21 | Genome research | | | 2000 | 619 | 0 |
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| Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla | Biochemical and biophysical research communications | | | 1999 | 657 | 0 |
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| Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia | The Journal of clinical investigation | | | 1999 | 540 | 0 |
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| Mutation analyses of North American APS-1 patients | Human mutation | | | 1999 | 664 | 0 |
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| Linearization and purification of BAC DNA for the development of transgenic mice | Transgenic research | | | 1999 | 539 | 0 |
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| The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster | European journal of human genetics | | | 1999 | 575 | 0 |
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| 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 | 672 | 0 |
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| A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes | Genome research | | | 1999 | 685 | 0 |
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| Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21 | American journal of medical genetics | | | 1999 | 638 | 0 |
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| No evidence for linkage between schizophrenia and markers at chromosome 15q13-14 | American journal of medical genetics | | | 1999 | 477 | 0 |
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| 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 | 623 | 0 |
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| Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency | Blood | | | 1999 | 592 | 0 |
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| Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) | Human genetics | | | 1999 | 721 | 0 |
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| Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping | Cytogenetics and cell genetics | | | 1999 | 623 | 1 |
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| Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1 | Human molecular genetics | | | 1999 | 583 | 0 |
|
| Isolation and characterization of the mouse Aire gene | Biochemical and biophysical research communications | | | 1999 | 626 | 0 |
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| Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly | Human genetics | | | 1998 | 675 | 0 |
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| Mind the GAP, Rho, Rab and GDI | Nature genetics | | | 1998 | 562 | 0 |
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| A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients | Human genetics | | | 1998 | 623 | 0 |
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| Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome | Genomics | | | 1998 | 591 | 0 |
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| Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2) | Genomics | | | 1998 | 611 | 0 |
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| Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2 | Cytogenetics and cell genetics | | | 1998 | 578 | 0 |
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| APECED: a monogenic autoimmune disease providing new clues to self-tolerance | Immunology today | | | 1998 | 552 | 0 |
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| 10 years of Genomics, chromosome 21, and Down syndrome | Genomics | | | 1998 | 609 | 0 |
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| Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility | Biological psychiatry | | | 1998 | 581 | 0 |
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| Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci | The Journal of clinical endocrinology and metabolism | | | 1998 | 647 | 0 |
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| Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group | Human mutation | | | 1998 | 533 | 0 |
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| A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset | American journal of human genetics | | | 1998 | 565 | 0 |
|
| Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis | Genomics | | | 1998 | 618 | 0 |
|
| Molecular genetics of coagulation factor VIII gene and haemophilia A | Haemophilia | | | 1998 | 579 | 0 |
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| Increased levels of a chromosome 21-encoded tumour invasion and metastasis factor (TIAM1) mRNA in bone marrow of Down syndrome children during the acute phase of AML(M7) | Genes chromosomes & cancer | | | 1998 | 532 | 0 |
|
| Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 | Nature genetics | | | 1998 | 592 | 0 |
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| Gene structure and chromosomal localization of the human P2X7 receptor | Receptors & channels | | | 1998 | 651 | 0 |
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| Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon | Genomics | | | 1998 | 636 | 0 |
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| Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins | Molecular endocrinology | | | 1998 | 633 | 0 |
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| Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity | American journal of human genetics | | | 1998 | 590 | 0 |
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| Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3 | Genomics | | | 1998 | 600 | 0 |
|
| Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1 | Human genetics | | | 1998 | 560 | 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 | 579 | 0 |
|
| Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2 | Human genetics | | | 1997 | 594 | 0 |
|
| Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15 | Human genetics | | | 1997 | 554 | 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 | 620 | 0 |
|
| Positional cloning of the APECED gene | Nature genetics | | | 1997 | 710 | 1 |
|
| Fortuitous detection of uniparental isodisomy of chromosome 6 | Journal of medical genetics | | | 1997 | 610 | 0 |
|
| Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome | Genomics | | | 1997 | 650 | 1 |
|
| Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4 | American journal of human genetics | | | 1997 | 537 | 0 |
|
| The SH3D1A gene maps to human chromosome 21q22.1-->q22.2 | Cytogenetics and cell genetics | | | 1997 | 451 | 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 | 600 | 0 |
|
| A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region | Human genetics | | | 1997 | 619 | 0 |
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| Meis1 and pKnox1 bind DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein E2a-Pbx1 | Proceedings of the National Academy of Sciences of the United States of America | | | 1997 | 595 | 0 |
|
| Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients | American journal of medical genetics | | | 1997 | 670 | 0 |
|
| Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3 | Genomics | | | 1997 | 647 | 0 |
|
| A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years | Acta neuropathologica | | | 1997 | 687 | 0 |
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| Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency | Human mutation | | | 1997 | 635 | 0 |
|
| Mutation in GLI3 in postaxial polydactyly type A | Nature genetics | | | 1997 | 630 | 0 |
|
| Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy | Nature | | | 1997 | 674 | 0 |
|
| Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3 | Biochemical and biophysical research communications | | | 1997 | 536 | 0 |
|
| Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13 | American journal of medical genetics | | | 1997 | 742 | 0 |
|
| Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3 | Genomics | | | 1997 | 632 | 0 |
|
| Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis | American journal of human genetics | | | 1997 | 601 | 0 |
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| Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee | Genomics | | | 1997 | 657 | 0 |
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| The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103 | American journal of human genetics | | | 1997 | 608 | 0 |
|
| The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region | American journal of medical genetics | | | 1997 | 637 | 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 | 596 | 0 |
|
| What is expanded in progressive myoclonus epilepsy? | Nature genetics | | | 1997 | 591 | 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 | 668 | 0 |
|
| Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene | American journal of human genetics | | | 1997 | 545 | 0 |
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| The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS | Nucleic acids research | | | 1996 | 730 | 0 |
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| A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 | Human molecular genetics | | | 1996 | 640 | 0 |
|
| Premeiotic trisomy 21 in oocytes and Down syndrome: a reply to Zheng and Byers's hypothesis | American journal of human genetics | | | 1996 | 499 | 0 |
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| Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22 | Annales de génétique | | | 1996 | 610 | 0 |
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| Mapping by sequence homology | European journal of human genetics | | | 1996 | 537 | 0 |
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| YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome | Human genetics | | | 1996 | 702 | 0 |
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| 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 | 647 | 0 |
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| Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus | Cold Spring Harbor Symposia on Quantitative Biology | | | 1996 | 487 | 0 |
|
| Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping | Genome research | | | 1996 | 600 | 0 |
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| A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22) | American journal of medical genetics | | | 1996 | 733 | 0 |
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| The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) gene | Cytogenetics and cell genetics | | | 1996 | 612 | 0 |
|
| Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2 | Genomics | | | 1996 | 525 | 0 |
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| The human lanosterol synthase gene maps to chromosome 21q22.3 | Human genetics | | | 1996 | 602 | 0 |
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| The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes | Cold Spring Harbor Symposia on Quantitative Biology | | | 1996 | 446 | 0 |
|
| An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36 | American journal of medical genetics | | | 1996 | 703 | 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 | 507 | 0 |
|
| Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3 | Human genetics | | | 1996 | 604 | 0 |
|
| Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation | Journal of medical genetics | | | 1996 | 603 | 0 |
|
| Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter | Genomics | | | 1996 | 590 | 0 |
|
| Early-onset dementias: clinical, neuropathological and genetic characteristics | Acta neuropathologica | | | 1996 | 675 | 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 | 557 | 0 |
|
| Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene | Human mutation | | | 1996 | 660 | 0 |
|
| Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3 | Genomics | | | 1996 | 575 | 0 |
|
| Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia | American journal of medical genetics | | | 1995 | 671 | 0 |
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| Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A | Nature genetics | | | 1995 | 787 | 0 |
|
| Molecular etiology of factor VIII deficiency in hemophilia A | Human mutation | | | 1995 | 658 | 0 |
|
| Two-dimensional electrophoresis southern transfer method for detecting human genome variability using a LINE-1 sequence probe | Analytical biochemistry | | | 1995 | 702 | 0 |
|
| A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination | American journal of human genetics | | | 1995 | 552 | 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 | 555 | 0 |
|
| Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain | Somatic cell and molecular genetics | | | 1995 | 621 | 0 |
|
| Factor VIII gene inversions in severe hemophilia A: results of an international consortium study | Blood | | | 1995 | 591 | 3 |
|
| The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells | Human molecular genetics | | | 1995 | 689 | 0 |
|
| Localization of 102 exons to a 2.5 Mb region involved in Down syndrome | Human molecular genetics | | | 1995 | 628 | 0 |
|
| Schizophrenia and chromosomal deletions within 22q11.2 | American journal of human genetics | | | 1995 | 557 | 0 |
|
| Molecular etiology of factor VIII deficiency in hemophilia A | Advances in experimental medicine and biology | | | 1995 | 576 | 0 |
|
| Characterization and chromosomal localization of a human P2X receptor from the urinary bladder | Receptors & channels | | | 1995 | 603 | 0 |
|
| Molecular genetics of coagulation factor VIII gene and hemophilia A | Thrombosis and haemostasis | | | 1995 | 777 | 0 |
|
| Single-minded and Down syndrome? | Nature genetics | | | 1995 | 585 | 1 |
|
| Schizophrenia susceptibility and chromosome 6p24-22 | Nature genetics | | | 1995 | 548 | 0 |
|
| Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1 | Genomics | | | 1995 | 583 | 0 |
|
| Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3 | American journal of medical genetics | | | 1995 | 632 | 0 |
|
| Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21 | Genomics | | | 1995 | 519 | 0 |
|
| Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes | Human mutation | | | 1994 | 629 | 0 |
|
| Discussion on mutation nomenclature | Human mutation | | | 1994 | 617 | 0 |
|
| Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis | American journal of human genetics | | | 1994 | 579 | 0 |
|
| Genome linkage scanning: systematic or intelligent? | Nature genetics | | | 1994 | 570 | 0 |
|
| Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives | The journal of nervous and mental disease | | | 1994 | 657 | 0 |
|
| Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene | Human molecular genetics | | | 1994 | 610 | 0 |
|
| Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically | American journal of medical genetics | | | 1994 | 591 | 0 |
|
| Dinucleotide repeat polymorphism within ERCC5 gene | Human molecular genetics | | | 1994 | 670 | 0 |
|
| Normal phenotype with paternal uniparental isodisomy for chromosome 21 | American journal of human genetics | | | 1993 | 638 | 1 |
|
| Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A | Nature genetics | | | 1993 | 656 | 0 |
|
| Human chromosome 21: genome mapping and exploration, circa 1993 | Trends in genetics | | | 1993 | 654 | 0 |
|
| Report of the Fourth International Workshop on Human Chromosome 21 | Genomics | | | 1993 | 587 | 0 |
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