SA
Antonarakis, Stylianos
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia | Genome research |  | 2025 | 29 | 0 | ||
| Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency | Human Molecular Genetics | | 2020 | 384 | 1 | ||
| De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy | American Journal of Human Genetics | | 2020 | 262 | 0 | ||
| Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects | American Journal of Human Genetics |  | 2020 | 406 | 0 | ||
| SCN8A heterozygous variants are associated with anoxic-epileptic seizures | American Journal of Medical Genetics. A | | 2020 | 262 | 1 | ||
| Chromatin three-dimensional interactions mediate genetic effects on gene expression | Science | | 2019 | 343 | 2 | ||
| Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder | Neuropediatrics | | 2018 | 576 | 2 | ||
| Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay | Genetics in Medicine |  | 2018 | 568 | 246 | ||
| Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics online | | 2018 | 62 | 49 | ||
| Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing | Cell Reports | | 2018 | 442 | 242 | ||
| Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother | Journal of Human Genetics | | 2018 | 445 | 346 | ||
| The effect of genetic variation on promoter usage and enhancer activity | Nature Communications | | 2017 | 365 | 160 | ||
| Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors | The Journal of Pathology | | 2017 | 660 | 2 | ||
| Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells | Nature Communications | | 2017 | 482 | 520 | ||
| No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients | Translational Psychiatry | | 2017 | 612 | 201 | ||
| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | 2017 | 534 | 2 | ||
| MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets | Bioinformatics | | 2017 | 424 | 109 | ||
| The genomic landscape of human cellular circadian variation points to a novel role for the signalosome | eLife | | 2017 | 426 | 221 | ||
| Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3 | Circulation: Cardiovascular Genetics | | 2017 | 485 | 274 | ||
| Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia | American journal of human genetics | | 2016 | 644 | 321 | ||
| DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome | American journal of human genetics | | 2016 | 615 | 175 | ||
| Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation | Cerebellum | | 2016 | 672 | 4 | ||
| HGVS Recommendations for the Description of Sequence Variants: 2016 Update | Human mutation | | 2016 | 565 | 0 | ||
| Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing | Scientific reports | | 2016 | 564 | 225 | ||
| Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree | Human genomics | | 2016 | 539 | 240 | ||
| Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells | Cell | | 2016 | 540 | 589 | ||
| APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication | Genome research | | 2016 | 558 | 268 | ||
| The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery | Cell | 2016 | 481 | 0 | |||
| Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy | American journal of human genetics | | 2016 | 682 | 228 | ||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | 2016 | 732 | 251 | ||
| Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma | Nature genetics | | 2016 | 866 | 8 | ||
| A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) | Human molecular genetics | | 2015 | 592 | 0 | ||
| The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype | BMC genomics | | 2015 | 693 | 300 | ||
| HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells | PloS one | | 2015 | 673 | 297 | ||
| Galanin pathogenic mutations in temporal lobe epilepsy | Human molecular genetics | | 2015 | 544 | 0 | ||
| CATCHing putative causative variants in consanguineous families | BMC bioinformatics | | 2015 | 611 | 198 | ||
| Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region | PLOS genetics | | 2015 | 588 | 238 | ||
| Biased allelic expression in human primary fibroblast single cells | American journal of human genetics | | 2015 | 602 | 0 | ||
| A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis | Sexual development | 2015 | 731 | 0 | |||
| Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders | Genome research | | 2015 | 537 | 2 | ||
| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | | 2015 | 652 | 450 | ||
| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics | | 2015 | 712 | 241 | ||
| HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation | Nature | | 2015 | 551 | 0 | ||
| Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21 | Stem cells | | 2015 | 714 | 469 | ||
| Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration | Stem cells | | 2015 | 635 | 0 | ||
| Familial epilepsy in Algeria: Clinical features and inheritance profiles | Seizure | | 2015 | 555 | 0 | ||
| Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome | Science | | 2015 | 527 | 1 | ||
| Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions | Omics | | 2015 | 543 | 0 | ||
| Next generation diagnostics on cardiomyopathy | Molecular cytogenetics | | 2014 | 665 | 190 | ||
| MOOCs: la fin des facultés de médecine conventionnelles ? | Revue médicale suisse | | 2014 | 514 | 8 | ||
| Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders | Clinical genetics | | 2014 | 728 | 0 | ||
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | 2014 | 686 | 4 | ||
| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | 2014 | 691 | 2 | ||
| Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster | Genome research | | 2014 | 652 | 0 | ||
| Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans | American journal of human genetics | | 2014 | 658 | 1 | ||
| Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes | PloS one | | 2014 | 751 | 461 | ||
| Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants | PloS one | | 2014 | 643 | 294 | ||
| Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in down syndrome | Genetics | | 2014 | 785 | 1 | ||
| 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 | 708 | 295 | ||
| Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report | BMC medical genetics | | 2014 | 557 | 197 | ||
| A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly | Human mutation | | 2014 | 663 | 4 | ||
| DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy | Neurology | | 2014 | 692 | 341 | ||
| Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | Genomics data | | 2014 | 548 | 1 | ||
| Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications | | 2014 | 748 | 211 | ||
| Analysis of the Born in Bradford birth cohort | Lancet | | 2014 | 749 | 4 | ||
| Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | EMBO molecular medicine | | 2014 | 737 | 445 | ||
| Guidelines for investigating causality of sequence variants in human disease | Nature | | 2014 | 672 | 298 | ||
| Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations | Nature communications | | 2014 | 637 | 195 | ||
| Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia | Bone | | 2014 | 602 | 0 | ||
| Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes | Molecular biology and evolution | | 2013 | 695 | 0 | ||
| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | Genome research | | 2013 | 734 | 526 | ||
| Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature | American journal of medical genetics. Part B, Neuropsychiatric genetics | | 2013 | 628 | 0 | ||
| Cell-type, allelic and genetic signatures in the human pancreatic beta cell transcriptome | Genome research | | 2013 | 699 | 480 | ||
| Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife | | 2013 | 762 | 492 | ||
| Pathogenic variants in non-protein-coding sequences | Clinical genetics | | 2013 | 574 | 0 | ||
| Transcriptome and genome sequencing uncovers functional variation in humans | Nature | | 2013 | 708 | 3 | ||
| Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity | European journal of human genetics | | 2013 | 623 | 336 | ||
| TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm | Retrovirology | | 2013 | 608 | 245 | ||
| Assessment of transcript reconstruction methods for RNA-seq | Nature methods | | 2013 | 661 | 327 | ||
| 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 | 546 | 0 | ||
| Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications | Stem cell research | | 2013 | 633 | 0 | ||
| MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study | Clinical genetics | | 2013 | 663 | 2 | ||
| Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome | Blood | | 2013 | 663 | 0 | ||
| Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories | Nature biotechnology | | 2013 | 623 | 1 | ||
| Genetic and epigenetic regulation of human lincRNA gene expression | American journal of human genetics | | 2013 | 663 | 0 | ||
| A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas | Cancer research | | 2012 | 702 | 1 | ||
| Genomic determinants in the phenotypic variability of Down syndrome | Progress in brain research | | 2012 | 665 | 0 | ||
| Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB | Human mutation | | 2012 | 578 | 0 | ||
| BLUEPRINT to decode the epigenetic signature written in blood | Nature biotechnology | | 2012 | 522 | 1 | ||
| 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 | 634 | 0 | ||
| Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion | Journal of medical genetics | | 2012 | 751 | 0 | ||
| An integrated encyclopedia of DNA elements in the human genome | Nature | | 2012 | 668 | 0 | ||
| Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? | European journal of medical genetics | | 2012 | 663 | 0 | ||
| BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients | Molecular neurobiology | | 2012 | 498 | 0 | ||
| Landscape of transcription in human cells | Nature | | 2012 | 868 | 729 | ||
| Extensive natural variation for cellular hydrogen peroxide release is genetically controlled | PloS one | | 2012 | 748 | 413 | ||
| Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma | Nature genetics | | 2012 | 669 | 3 | ||
| Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes | Human molecular genetics | | 2012 | 610 | 1 | ||
| High-throughput sequencing and rare genetic diseases | Molecular syndromology | | 2012 | 616 | 261 | ||
| Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele | Journal of medical genetics | | 2012 | 673 | 0 | ||
| Evidence for transcript networks composed of chimeric RNAs in human cells | PloS one | | 2012 | 1,139 | 526 | ||
| From sequence to functional understanding: the difficult road ahead | Genome medicine | | 2011 | 607 | 152 | ||
| Systems medicine and integrated care to combat chronic noncommunicable diseases | Genome medicine | | 2011 | 652 | 617 | ||
| Mouse models for Down syndrome-associated developmental cognitive disabilities | Developmental neuroscience | | 2011 | 543 | 0 | ||
| Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report | Genetics in medicine | | 2011 | 642 | 2 | ||
| 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 | 540 | 0 | ||
| Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts | Genome research | | 2011 | 723 | 339 | ||
| A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia | European journal of medical genetics | | 2011 | 710 | 0 | ||
| Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice | Journal of medical genetics | | 2011 | 663 | 0 | ||
| A user's guide to the encyclopedia of DNA elements (ENCODE) | PLoS biology | | 2011 | 707 | 775 | ||
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Nature | | 2011 | 792 | 2 | ||
| Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma | PloS one | | 2011 | 624 | 461 | ||
| Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing | Investigative ophthalmology & visual science | | 2011 | 612 | 0 | ||
| Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences | PloS one | | 2011 | 663 | 394 | ||
| DNA methylation profiles of human active and inactive X chromosomes | Genome research | | 2011 | 656 | 0 | ||
| Regulation of fibrinogen production by microRNAs | Blood | | 2010 | 619 | 0 | ||
| New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism | Nature | | 2010 | 644 | 326 | ||
| A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats | Human molecular genetics | | 2010 | 557 | 0 | ||
| A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes | PloS one | | 2010 | 744 | 264 | ||
| De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features | Clinical genetics | | 2010 | 669 | 0 | ||
| A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents | Genetics in medicine | | 2010 | 568 | 0 | ||
| Down syndrome: from understanding the neurobiology to therapy | The Journal of neuroscience | | 2010 | 691 | 2 | ||
| A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus | PloS one | | 2010 | 845 | 427 | ||
| Mendelian disorders and multifactorial traits: the big divide or one for all? | Nature reviews. Genetics | | 2010 | 620 | 0 | ||
| Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation | American journal of medical genetics. Part A | | 2010 | 534 | 0 | ||
| Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15 | Genome research | | 2010 | 536 | 0 | ||
| Eye Gaze During Face Processing in Children and Adolescents With 22q11.2 Deletion Syndrome | Journal of the American Academy of Child and Adolescent Psychiatry | | 2010 | 765 | 9 | ||
| A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes | GenomeBiology.com | | 2010 | 649 | 421 | ||
| Genetic structure of Europeans: a view from the North-East | PloS one | | 2009 | 749 | 763 | ||
| Identifying protein-coding genes in genomic sequences | GenomeBiology.com | | 2009 | 658 | 334 | ||
| Common regulatory variation impacts gene expression in a cell type-dependent manner | Science | | 2009 | 670 | 2 | ||
| 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 | 699 | 547 | ||
| Transcriptional and post-transcriptional profile of human chromosome 21 | Genome research | | 2009 | 696 | 0 | ||
| Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation | Human mutation | | 2009 | 651 | 0 | ||
| Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms | European journal of medical genetics | | 2009 | 683 | 0 | ||
| Common genetic variation and the control of HIV-1 in humans | PLOS genetics | | 2009 | 1,236 | 313 | ||
| The genome sequence of taurine cattle: a window to ruminant biology and evolution | Science | | 2009 | 721 | 5 | ||
| Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres | Journal of neuroscience research | | 2009 | 643 | 0 | ||
| A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome | Human molecular genetics | | 2009 | 593 | 0 | ||
| Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype | The Journal of immunology | | 2009 | 514 | 0 | ||
| Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 | European journal of human genetics | | 2009 | 716 | 0 | ||
| Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing | PloS one | | 2009 | 860 | 342 | ||
| Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls | Human mutation | | 2009 | 462 | 0 | ||
| Pericentromeric instability and spontaneous emergence of human neoacrocentric and minute chromosomes in the alternative pathway of telomere lengthening | Cancer research | | 2008 | 602 | 0 | ||
| Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients | American journal of medical genetics. Part A | | 2008 | 658 | 0 | ||
| TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness | Frontiers in bioscience | | 2008 | 900 | 572 | ||
| CNVs and genetic medicine (excitement and consequences of a rediscovery) | Cytogenetic and genome research | | 2008 | 558 | 0 | ||
| Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3 | Mammalian genome | | 2008 | 699 | 354 | ||
| Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes | The New England journal of medicine | | 2008 | 695 | 1,987 | ||
| Functional genetic variation of human miRNAs and phenotypic consequences | Mammalian genome | | 2008 | 583 | 279 | ||
| Mapping of small RNAs in the human ENCODE regions | American journal of human genetics | | 2008 | 611 | 0 | ||
| Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells | GenomeBiology.com | | 2008 | 647 | 416 | ||
| Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations | Human mutation | | 2008 | 720 | 0 | ||
| A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy | Human mutation | | 2008 | 743 | 0 | ||
| Efficient targeted transcript discovery via array-based normalization of RACE libraries | Nature methods | | 2008 | 674 | 493 | ||
| Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore | Molecular pharmacology | | 2008 | 662 | 0 | ||
| Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development | American journal of human genetics | | 2008 | 670 | 528 | ||
| DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome | American journal of human genetics | | 2008 | 625 | 0 | ||
| Welcome to PathoGenetics | PathoGenetics | | 2008 | 646 | 168 | ||
| Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin | Nucleic acids research | | 2008 | 567 | 412 | ||
| Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome | Proceedings of the National Academy of Sciences of the United States of America | | 2008 | 553 | 0 | ||
| In vitro whole-genome analysis identifies a susceptibility locus for HIV-1 | PLoS biology | | 2008 | 717 | 394 | ||
| Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events | American journal of medical genetics. Part A | | 2008 | 708 | 4 | ||
| Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions | Genome research | | 2007 | 629 | 0 | ||
| Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution | Genome research | | 2007 | 528 | 0 | ||
| Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation | American journal of medical genetics. Part A | | 2007 | 627 | 0 | ||
| Gene duplication: a drive for phenotypic diversity and cause of human disease | Annual review of genomics and human genetics | 2007 | 622 | 0 | |||
| Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome | Human brain mapping | | 2007 | 538 | 0 | ||
| MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother | Brain & development | | 2007 | 570 | 0 | ||
| Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease | Human mutation | | 2007 | 649 | 0 | ||
| A whole-genome association study of major determinants for host control of HIV-1 | Science | | 2007 | 751 | 859 | ||
| Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome | Genome research | | 2007 | 629 | 1 | ||
| Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance | American journal of human genetics | | 2007 | 691 | 0 | ||
| Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements | Proceedings of the National Academy of Sciences of the United States of America | | 2007 | 570 | 0 | ||
| 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 | 642 | 0 | ||
| Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 | Genome research | | 2007 | 631 | 0 | ||
| Structured RNAs in the ENCODE selected regions of the human genome | Genome research | | 2007 | 572 | 0 | ||
| Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability | Nature reviews. Genetics | | 2007 | 603 | 0 | ||
| 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 | 680 | 0 | ||
| Early history of mammals is elucidated with the ENCODE multiple species sequencing data | PLOS genetics | | 2007 | 707 | 697 | ||
| Promoter polymorphisms and allelic imbalance in ABCB1 expression | Pharmacogenetics and genomics | | 2007 | 622 | 0 | ||
| The implications of alternative splicing in the ENCODE protein complement | Proceedings of the National Academy of Sciences of the United States of America | | 2007 | 536 | 1 | ||
| Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1 | American journal of human genetics | | 2007 | 570 | 0 | ||
| Mendelian disorders deserve more attention | Nature reviews. Genetics | | 2006 | 571 | 0 | ||
| No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome | The American journal of psychiatry | | 2006 | 701 | 441 | ||
| Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis | American journal of medical genetics. Part A | | 2006 | 675 | 0 | ||
| The challenge of Down syndrome | Trends in molecular medicine | | 2006 | 563 | 2 | ||
| Conserved noncoding sequences are selectively constrained and not mutation cold spots | Nature genetics | | 2006 | 667 | 0 | ||
| Tandem chimerism as a means to increase protein complexity in the human genome | Genome research | | 2006 | 605 | 0 | ||
| GENCODE: producing a reference annotation for ENCODE | GenomeBiology.com | | 2006 | 687 | 333 | ||
| DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects | American journal of respiratory and critical care medicine | | 2006 | 676 | 0 | ||
| 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 | 630 | 0 | ||
| EGASP: the human ENCODE Genome Annotation Assessment Project | GenomeBiology.com | | 2006 | 813 | 387 | ||
| Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region | American journal of medical genetics. Part A | | 2006 | 703 | 0 | ||
| Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions | Journal of medical genetics | | 2006 | 677 | 0 | ||
| Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes | American journal of human genetics | | 2006 | 670 | 0 | ||
| Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation | American journal of medical genetics. Part A | | 2006 | 591 | 0 | ||
| Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes | Human molecular genetics | | 2005 | 592 | 0 | ||
| Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter | EMBO reports | | 2005 | 581 | 0 | ||
| Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis | Proceedings of the National Academy of Sciences of the United States of America | | 2005 | 661 | 0 | ||
| LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes | Human molecular genetics | | 2005 | 648 | 0 | ||
| Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass | Current opinion in lipidology | | 2005 | 567 | 0 | ||
| LRP5 gene polymorphisms and idiopathic osteoporosis in men | Bone | | 2005 | 576 | 0 | ||
| Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro | Human mutation | | 2005 | 660 | 0 | ||
| The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome | Human molecular genetics | | 2005 | 608 | 0 | ||
| Evolutionary comparison provides evidence for pathogenicity of RMRP mutations | PLOS genetics | | 2005 | 621 | 453 | ||
| Conserved non-genic sequences - an unexpected feature of mammalian genomes | Nature reviews. Genetics | | 2005 | 557 | 0 | ||
| Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling | Molecular genetics and genomics | | 2005 | 588 | 326 | ||
| L'apport de la génétique moléculaire en cardiologie clinique : l'exemple de la cardiomyopathie hypertrophique | Revue médicale suisse | | 2005 | 561 | 1 | ||
| Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor | Clinical pharmacology and therapeutics | | 2005 | 617 | 0 | ||
| Gene finding in the chicken genome | BMC bioinformatics | | 2005 | 651 | 271 | ||
| 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 | 580 | 0 | ||
| 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 | 569 | 0 | ||
| COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome | Nature neuroscience | | 2005 | 534 | 0 | ||
| 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 | 637 | 0 | ||
| A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein | Human genetics | | 2005 | 690 | 330 | ||
| The human sugar-phosphate/phosphate exchanger family SLC37 | Pflügers Archiv | | 2004 | 592 | 0 | ||
| A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q | Annals of neurology | | 2004 | 625 | 0 | ||
| Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin | Human mutation | | 2004 | 668 | 0 | ||
| Association of the connexin36 gene with juvenile myoclonic epilepsy | Journal of medical genetics | | 2004 | 596 | 0 | ||
| Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome | Genome research | | 2004 | 561 | 0 | ||
| 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 | 567 | 0 | ||
| Chromosome 21 and down syndrome: from genomics to pathophysiology | Nature reviews. Genetics | | 2004 | 773 | 0 | ||
| 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 | 590 | 0 | ||
| Detection of aneuploidies by paralogous sequence quantification | Journal of medical genetics | | 2004 | 520 | 0 | ||
| The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development | Genomics | | 2004 | 575 | 0 | ||
| No association between DUP25 and anxiety disorders | American journal of medical genetics. Part B, Neuropsychiatric genetics | | 2004 | 633 | 0 | ||
| 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 | 602 | 0 | ||
| Genetic variability of mu-opioid receptor in an obstetric population | Anesthesiology | | 2004 | 471 | 0 | ||
| Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome | Blood | | 2003 | 651 | 0 | ||
| 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 | 671 | 0 | ||
| Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling | Biochimica et biophysica acta | | 2003 | 637 | 0 | ||
| Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12 | Gene | | 2003 | 639 | 0 | ||
| Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder | American journal of human genetics | | 2003 | 641 | 4 | ||
| The TPTE gene family: cellular expression, subcellular localization and alternative splicing | Gene | | 2003 | 703 | 0 | ||
| The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion | Cytogenetic and genome research | | 2003 | 574 | 0 | ||
| Mutation nomenclature | Current protocols in human genetics | 2003 | 607 | 0 | |||
| 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 | 552 | 1 | ||
| Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs) | Science | | 2003 | 630 | 0 | ||
| Trapping and sequence analysis of 1138 putative exons from human chromosome 18 | Molecular psychiatry | | 2003 | 543 | 0 | ||
| Chromosome 21 and Down syndrome: the post-sequence era | Cold Spring Harbor Symposia on Quantitative Biology | 2003 | 557 | 0 | |||
| Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome | Human genetics | | 2003 | 541 | 0 | ||
| 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 | 617 | 0 | ||
| FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients | American journal of medical genetics. Part A | | 2003 | 734 | 0 | ||
| Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia | American journal of human genetics | | 2003 | 559 | 1 | ||
| A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 | Human molecular genetics | | 2003 | 644 | 0 | ||
| Numerous potentially functional but non-genic conserved sequences on human chromosome 21 | Nature | | 2002 | 597 | 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 | 655 | 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 | 622 | 0 | ||
| Chromosome 21: a small land of fascinating disorders with unknown pathophysiology | The International journal of developmental biology | | 2002 | 542 | 0 | ||
| Nineteen additional unpredicted transcripts from human chromosome 21 | Genomics | | 2002 | 721 | 0 | ||
| 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 | 529 | 0 | ||
| Language skills in children with velocardiofacial syndrome (deletion 22q11.2) | The Journal of pediatrics | | 2002 | 585 | 0 | ||
| Initial sequencing and comparative analysis of the mouse genome | Nature | | 2002 | 797 | 6 | ||
| Human chromosome 21 gene expression atlas in the mouse | Nature | | 2002 | 608 | 0 | ||
| The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro | Human molecular genetics | | 2002 | 636 | 0 | ||
| Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors | Human genetics | | 2002 | 576 | 1 | ||
| A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects | Genomics | | 2002 | 560 | 2 | ||
| Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients | Journal of molecular medicine | | 2002 | 655 | 0 | ||
| Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness | Human mutation | | 2001 | 639 | 1 | ||
| Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP | Nature cell biology | | 2001 | 607 | 0 | ||
| The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family | Human genetics | | 2001 | 592 | 337 | ||
| Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness | Journal of medical genetics | | 2001 | 549 | 0 | ||
| Prise en charge multidisciplinaire du cancer colorectal héréditaire | Swiss surgery | | 2001 | 846 | 0 | ||
| APECED mutations in the autoimmune regulator (AIRE) gene | Human mutation | | 2001 | 529 | 0 | ||
| 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 | 601 | 0 | ||
| A cSNP map and database for human chromosome 21 | Genome research | | 2001 | 501 | 0 | ||
| From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map | Genomics | | 2001 | 623 | 0 | ||
| 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 | 676 | 0 | ||
| BACking up the promises | Nature genetics | | 2001 | 532 | 0 | ||
| Frequency of replication/transcription errors in (A)/(T) runs of human genes | Human genetics | | 2001 | 545 | 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 | 635 | 0 | ||
| Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T | Blood | | 2001 | 590 | 0 | ||
| 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 | 613 | 0 | ||
| Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness | Nature genetics | | 2001 | 632 | 0 | ||
| Differential gene expression studies to explore the molecular pathophysiology of Down syndrome | European journal of pediatrics | | 2001 | 586 | 0 | ||
| Nomenclature for the description of human sequence variations | Human genetics | | 2001 | 958 | 0 | ||
| Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia | Genomics | | 2001 | 622 | 1 | ||
| Chromosome 21: from sequence to applications | Current opinion in genetics & development | | 2001 | 558 | 0 | ||
| Isolation and initial characterization of the mouse Dnmt3l gene | Cytogenetics and cell genetics | | 2001 | 495 | 0 | ||
| Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study | Archives of general psychiatry | | 2001 | 547 | 0 | ||
| 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 | 606 | 0 | ||
| Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21 | Human genetics | | 2000 | 618 | 248 | ||
| No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) | Cytogenetics and cell genetics | | 2000 | 664 | 0 | ||
| RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse | European Journal of Immunology | | 2000 | 585 | 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 | 533 | 0 | ||
| 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 | 650 | 0 | ||
| Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes | European child & adolescent psychiatry | | 2000 | 640 | 0 | ||
| 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 | 604 | 0 | ||
| Mutations in GJB6 cause hidrotic ectodermal dysplasia | Nature genetics | | 2000 | 529 | 0 | ||
| Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion | Human mutation | | 2000 | 480 | 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 | 598 | 0 | ||
| The DNA sequence of human chromosome 21 | Nature | | 2000 | 1,331 | 3 | ||
| Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia | Blood | | 2000 | 571 | 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 | 507 | 1 | ||
| The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein | The Journal of biological chemistry | | 2000 | 620 | 0 | ||
| 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 | 558 | 0 | ||
| Disease-causing mutations in the human genome | European journal of pediatrics | | 2000 | 558 | 0 | ||
| 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 | 591 | 0 | ||
| Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes | Molecular psychiatry | | 2000 | 635 | 0 | ||
| OMIM passes the 1,000-disease-gene mark | Nature genetics | | 2000 | 598 | 0 | ||
| C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning | Genomics | | 2000 | 625 | 0 | ||
| Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity | European journal of human genetics | | 2000 | 629 | 0 | ||
| Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3 | Advances in oto-rhino-laryngology | 2000 | 481 | 0 | |||
| Patterns of meiotic recombination on the long arm of human chromosome 21 | Genome research | | 2000 | 590 | 0 | ||
| Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla | Biochemical and biophysical research communications | | 1999 | 627 | 0 | ||
| Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia | The Journal of clinical investigation | | 1999 | 512 | 0 | ||
| Mutation analyses of North American APS-1 patients | Human mutation | | 1999 | 636 | 0 | ||
| Linearization and purification of BAC DNA for the development of transgenic mice | Transgenic research | | 1999 | 514 | 0 | ||
| 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 | 544 | 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 | 646 | 0 | ||
| A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes | Genome research | | 1999 | 653 | 0 | ||
| 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 | 603 | 0 | ||
| No evidence for linkage between schizophrenia and markers at chromosome 15q13-14 | American journal of medical genetics | | 1999 | 451 | 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 | 592 | 0 | ||
| Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency | Blood | | 1999 | 558 | 0 | ||
| Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) | Human genetics | | 1999 | 692 | 0 | ||
| 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 | 598 | 1 | ||
| 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 | 545 | 0 | ||
| Isolation and characterization of the mouse Aire gene | Biochemical and biophysical research communications | | 1999 | 598 | 0 | ||
| Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly | Human genetics | | 1998 | 645 | 0 | ||
| Mind the GAP, Rho, Rab and GDI | Nature genetics | | 1998 | 531 | 0 | ||
| A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients | Human genetics | | 1998 | 593 | 0 | ||
| Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome | Genomics | | 1998 | 551 | 0 | ||
| Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2) | Genomics | | 1998 | 588 | 0 | ||
| 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 | 552 | 0 | ||
| APECED: a monogenic autoimmune disease providing new clues to self-tolerance | Immunology today | | 1998 | 517 | 0 | ||
| 10 years of Genomics, chromosome 21, and Down syndrome | Genomics | | 1998 | 581 | 0 | ||
| Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility | Biological psychiatry | | 1998 | 555 | 0 | ||
| 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 | 616 | 0 | ||
| Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group | Human mutation | | 1998 | 512 | 0 | ||
| 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 | 532 | 0 | ||
| Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis | Genomics | | 1998 | 594 | 0 | ||
| Molecular genetics of coagulation factor VIII gene and haemophilia A | Haemophilia | | 1998 | 558 | 0 | ||
| 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 | 500 | 0 | ||
| Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 | Nature genetics | | 1998 | 559 | 0 | ||
| Gene structure and chromosomal localization of the human P2X7 receptor | Receptors & channels | 1998 | 623 | 0 | |||
| Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon | Genomics | | 1998 | 609 | 0 | ||
| Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins | Molecular endocrinology | | 1998 | 601 | 0 | ||
| Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity | American journal of human genetics | | 1998 | 557 | 0 | ||
| Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3 | Genomics | | 1998 | 576 | 0 | ||
| Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1 | Human genetics | | 1998 | 537 | 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 | 550 | 0 | ||
| Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2 | Human genetics | | 1997 | 571 | 0 | ||
| Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15 | Human genetics | | 1997 | 523 | 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 | 594 | 0 | ||
| Positional cloning of the APECED gene | Nature genetics | | 1997 | 673 | 1 | ||
| Fortuitous detection of uniparental isodisomy of chromosome 6 | Journal of medical genetics | | 1997 | 565 | 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 | 621 | 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 | 507 | 0 | ||
| The SH3D1A gene maps to human chromosome 21q22.1-->q22.2 | Cytogenetics and cell genetics | 1997 | 422 | 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 | 561 | 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 | 592 | 0 | ||
| 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 | 572 | 0 | ||
| Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients | American journal of medical genetics | | 1997 | 627 | 0 | ||
| Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3 | Genomics | | 1997 | 620 | 0 | ||
| A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years | Acta neuropathologica | | 1997 | 654 | 0 | ||
| 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 | 596 | 0 | ||
| Mutation in GLI3 in postaxial polydactyly type A | Nature genetics | | 1997 | 607 | 0 | ||
| Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy | Nature | | 1997 | 642 | 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 | 506 | 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 | 711 | 0 | ||
| Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3 | Genomics | | 1997 | 607 | 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 | 579 | 0 | ||
| Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee | Genomics | | 1997 | 601 | 0 | ||
| The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103 | American journal of human genetics | | 1997 | 585 | 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 | 605 | 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 | 569 | 0 | ||
| What is expanded in progressive myoclonus epilepsy? | Nature genetics | | 1997 | 553 | 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 | 642 | 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 | 521 | 0 | ||
| The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS | Nucleic acids research | | 1996 | 686 | 0 | ||
| A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 | Human molecular genetics | | 1996 | 607 | 0 | ||
| Premeiotic trisomy 21 in oocytes and Down syndrome: a reply to Zheng and Byers's hypothesis | American journal of human genetics | | 1996 | 472 | 0 | ||
| Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22 | Annales de génétique | 1996 | 576 | 0 | |||
| Mapping by sequence homology | European journal of human genetics | 1996 | 515 | 0 | |||
| YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome | Human genetics | | 1996 | 673 | 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 | 616 | 0 | ||
| Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus | Cold Spring Harbor Symposia on Quantitative Biology | 1996 | 461 | 0 | |||
| Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping | Genome research | | 1996 | 576 | 0 | ||
| 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 | 702 | 0 | ||
| 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 | 589 | 0 | |||
| Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2 | Genomics | | 1996 | 496 | 0 | ||
| The human lanosterol synthase gene maps to chromosome 21q22.3 | Human genetics | | 1996 | 575 | 0 | ||
| 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 | 417 | 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 | 680 | 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 | 479 | 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 | 575 | 0 | ||
| Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation | Journal of medical genetics | | 1996 | 568 | 0 | ||
| Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter | Genomics | | 1996 | 567 | 0 | ||
| Early-onset dementias: clinical, neuropathological and genetic characteristics | Acta neuropathologica | 1996 | 652 | 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 | 532 | 0 | ||
| Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene | Human mutation | | 1996 | 639 | 0 | ||
| Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3 | Genomics | | 1996 | 553 | 0 | ||
| Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia | American journal of medical genetics | 1995 | 637 | 0 | |||
| Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A | Nature genetics | | 1995 | 751 | 0 | ||
| Molecular etiology of factor VIII deficiency in hemophilia A | Human mutation | 1995 | 633 | 0 | |||
| Two-dimensional electrophoresis southern transfer method for detecting human genome variability using a LINE-1 sequence probe | Analytical biochemistry | | 1995 | 669 | 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 | 531 | 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 | 531 | 0 | ||
| Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain | Somatic cell and molecular genetics | 1995 | 595 | 0 | |||
| Factor VIII gene inversions in severe hemophilia A: results of an international consortium study | Blood | | 1995 | 566 | 3 | ||
| The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells | Human molecular genetics | 1995 | 659 | 0 | |||
| Localization of 102 exons to a 2.5 Mb region involved in Down syndrome | Human molecular genetics | 1995 | 598 | 0 | |||
| Schizophrenia and chromosomal deletions within 22q11.2 | American journal of human genetics | | 1995 | 529 | 0 | ||
| Molecular etiology of factor VIII deficiency in hemophilia A | Advances in experimental medicine and biology | 1995 | 551 | 0 | |||
| Characterization and chromosomal localization of a human P2X receptor from the urinary bladder | Receptors & channels | 1995 | 575 | 0 | |||
| Molecular genetics of coagulation factor VIII gene and hemophilia A | Thrombosis and haemostasis | 1995 | 749 | 0 | |||
| Single-minded and Down syndrome? | Nature genetics | | 1995 | 558 | 0 | ||
| Schizophrenia susceptibility and chromosome 6p24-22 | Nature genetics | | 1995 | 527 | 0 | ||
| Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1 | Genomics | | 1995 | 561 | 0 | ||
| Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3 | American journal of medical genetics | 1995 | 605 | 0 | |||
| Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21 | Genomics | | 1995 | 491 | 0 | ||
| Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes | Human mutation | 1994 | 600 | 0 | |||
| Discussion on mutation nomenclature | Human mutation | 1994 | 593 | 0 | |||
| Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis | American journal of human genetics | | 1994 | 557 | 0 | ||
| Genome linkage scanning: systematic or intelligent? | Nature genetics | | 1994 | 546 | 0 | ||
| Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives | The journal of nervous and mental disease | 1994 | 629 | 0 | |||
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