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| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance ? | Clinical genetics |  | 2026 | 9 | 78 | ||
| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | 2023 | 195 | 156 | ||
| Variable Intrafamilial Expression of ABCB4 Disease | ACG case reports journal | | 2023 | 88 | 100 | ||
| Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster | Haemophilia |  | 2022 | 244 | 2 | ||
| A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family | Haematologica | | 2022 | 348 | 278 | ||
| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation | | 2021 | 379 | 486 | ||
| Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | | 2021 | 317 | 450 | ||
| Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders | Genetics in medicine | | 2021 | 115 | 236 | ||
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | 2021 | 169 | 106 | ||
| SCN8A heterozygous variants are associated with anoxic-epileptic seizures | American Journal of Medical Genetics. A | | 2020 | 278 | 1 | ||
| LARS2-Perrault syndrome: a new case report and literature review | BMC Medical Genetics | | 2020 | 480 | 497 | ||
| MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination | Annals of Clinical and Translational Neurology | | 2020 | 220 | 189 | ||
| Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome) | American Journal of Medical Genetics. A | | 2020 | 344 | 1 | ||
| Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes | Pediatric Diabetes | | 2019 | 366 | 3 | ||
| Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder | Neuropediatrics | | 2018 | 591 | 2 | ||
| Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay | Genetics in Medicine | | 2018 | 582 | 329 | ||
| Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics | | 2018 | 78 | 90 | ||
| 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 | 461 | 543 | ||
| New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation | The Pharmacogenomics Journal | | 2018 | 605 | 1 | ||
| 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 | 631 | 220 | ||
| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | 2017 | 549 | 2 | ||
| Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia | American journal of human genetics | | 2016 | 655 | 437 | ||
| Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree | Human genomics | | 2016 | 557 | 321 | ||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | 2016 | 747 | 327 | ||
| Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma | Human genome meeting 2016 | | 2016 | 7 | 12 | ||
| Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma | Nature genetics | | 2016 | 883 | 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 | 612 | 0 | ||
| HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells | PloS one | | 2015 | 688 | 345 | ||
| Galanin pathogenic mutations in temporal lobe epilepsy | Human molecular genetics | | 2015 | 556 | 0 | ||
| Biased allelic expression in human primary fibroblast single cells | American journal of human genetics |  | 2015 | 610 | 0 | ||
| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | | 2015 | 665 | 466 | ||
| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics | | 2015 | 728 | 314 | ||
| Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21 | Stem cells | | 2015 | 734 | 587 | ||
| Familial epilepsy in Algeria: Clinical features and inheritance profiles | Seizure | | 2015 | 563 | 0 | ||
| Next generation diagnostics on cardiomyopathy | Molecular cytogenetics | | 2014 | 679 | 210 | ||
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | 2014 | 701 | 4 | ||
| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | 2014 | 708 | 2 | ||
| Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster | Genome research | | 2014 | 669 | 0 | ||
| Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes | PloS one | | 2014 | 770 | 502 | ||
| 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 | 728 | 327 | ||
| Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications | | 2014 | 773 | 267 | ||
| Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | EMBO molecular medicine | | 2014 | 753 | 553 | ||
| Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations | Nature communications | | 2014 | 649 | 231 | ||
| Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia | Bone | | 2014 | 618 | 0 | ||
| Copy number variants and therapeutic response to antidepressant medication in major depressive disorder | Pharmacogenomics journal | | 2014 | 624 | 0 | ||
| 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 | 642 | 0 | ||
| Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife | | 2013 | 778 | 541 | ||
| TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm | Retrovirology | | 2013 | 619 | 340 | ||
| 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 | 582 | 0 | ||
| A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family | BMC genetics | | 2013 | 217 | 114 | ||
| A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas | Cancer research | | 2012 | 719 | 1 | ||
| Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma | Nature genetics | | 2012 | 685 | 3 | ||
| Genetic predictors of response to serotonergic and noradrenergic antidepressants in major depressive disorder: a genome-wide analysis of individual-level data and a meta-analysis | PLoS medicine | | 2012 | 751 | 480 | ||
| Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy | Human mutation | | 2012 | 239 | 0 | ||
| Role of Type II Transmembrane Serine Proteases in Hearing Loss | | 2011 | 838 | 9 | |||
| 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 | 553 | 0 | ||
| Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences | PloS one | | 2011 | 678 | 449 | ||
| Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice | Neuroreport | | 2010 | 607 | 582 | ||
| SAGE analysis of genes differentially expressed in presymptomatic TgSOD1G93A transgenic mice identified cellular processes involved in early stage of ALS pathology | Journal of molecular neuroscience | | 2010 | 616 | 0 | ||
| Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family | Epilepsy research | | 2010 | 636 | 0 | ||
| Simultaneous analysis of serotonin transporter, tryptophan hydroxylase 1 and 2 gene expression in the ventral prefrontal cortex of suicide victims | American journal of medical genetics. Part B, Neuropsychiatric genetics | | 2010 | 748 | 1 | ||
| Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies | PLOS genetics | | 2010 | 719 | 520 | ||
| Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behavior | American journal of medical genetics. Part B, Neuropsychiatric genetics | | 2009 | 748 | 1 | ||
| 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy | Nature genetics | | 2009 | 626 | 2 | ||
| TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness | Frontiers in bioscience | | 2008 | 934 | 746 | ||
| An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss | Human mutation | | 2008 | 596 | 0 | ||
| Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin | Human mutation | | 2004 | 684 | 0 | ||
| Association of the connexin36 gene with juvenile myoclonic epilepsy | Journal of medical genetics | | 2004 | 615 | 0 | ||
| The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development | Genomics | | 2004 | 592 | 0 | ||
| Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling | Biochimica et biophysica acta | | 2003 | 655 | 0 | ||
| Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12 | Gene | | 2003 | 655 | 0 | ||
| Nineteen additional unpredicted transcripts from human chromosome 21 | Genomics | | 2002 | 742 | 0 | ||
| The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro | Human molecular genetics | | 2002 | 656 | 0 | ||
| Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness | Human mutation | | 2001 | 659 | 1 | ||
| Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP | Nature cell biology | | 2001 | 643 | 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 | 605 | 378 | ||
| From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map | Genomics | | 2001 | 636 | 0 | ||
| Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness | Nature genetics | | 2001 | 647 | 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 | 632 | 289 | ||
| 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 | 619 | 0 | ||
| C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning | Genomics | | 2000 | 643 | 0 | ||
| Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) | Human genetics | | 1999 | 711 | 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 | 569 | 0 | ||
| Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon | Genomics | | 1998 | 626 | 0 | ||
| Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1 | Human genetics | | 1998 | 550 | 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 | 569 | 0 |
