| Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance ? | Clinical genetics | | | 2026 | 12 | 248 |
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| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | | 2023 | 198 | 193 |
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| Variable Intrafamilial Expression of ABCB4 Disease | ACG case reports journal | | | 2023 | 92 | 117 |
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| Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster | Haemophilia | | | 2022 | 246 | 2 |
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| 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 | 350 | 299 |
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| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation | | | 2021 | 381 | 525 |
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| Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | | | 2021 | 319 | 491 |
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| Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders | Genetics in medicine | | | 2021 | 117 | 257 |
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| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | | 2021 | 171 | 113 |
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| SCN8A heterozygous variants are associated with anoxic-epileptic seizures | American Journal of Medical Genetics. A | | | 2020 | 280 | 1 |
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| LARS2-Perrault syndrome: a new case report and literature review | BMC Medical Genetics | | | 2020 | 483 | 541 |
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| MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination | Annals of Clinical and Translational Neurology | | | 2020 | 227 | 198 |
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| Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome) | American Journal of Medical Genetics. A | | | 2020 | 346 | 1 |
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| Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes | Pediatric Diabetes | | | 2019 | 369 | 3 |
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| Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder | Neuropediatrics | | | 2018 | 593 | 2 |
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| Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay | Genetics in Medicine | | | 2018 | 585 | 345 |
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| Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics | | | 2018 | 80 | 104 |
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| 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 | 464 | 555 |
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| 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 | 607 | 1 |
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| 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 | 633 | 226 |
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| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | | 2017 | 551 | 2 |
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| Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia | American journal of human genetics | | | 2016 | 657 | 462 |
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| Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree | Human genomics | | | 2016 | 559 | 341 |
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| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | | 2016 | 749 | 353 |
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| Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma | Human genome meeting 2016 | | | 2016 | 9 | 24 |
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| Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma | Nature genetics | | | 2016 | 885 | 8 |
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| 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 | 614 | 0 |
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| HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells | PloS one | | | 2015 | 690 | 357 |
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| Galanin pathogenic mutations in temporal lobe epilepsy | Human molecular genetics | | | 2015 | 558 | 0 |
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| Biased allelic expression in human primary fibroblast single cells | American journal of human genetics | | | 2015 | 612 | 0 |
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| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | | | 2015 | 667 | 472 |
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| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics | | | 2015 | 730 | 327 |
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| Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21 | Stem cells | | | 2015 | 736 | 607 |
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| Familial epilepsy in Algeria: Clinical features and inheritance profiles | Seizure | | | 2015 | 565 | 0 |
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| Next generation diagnostics on cardiomyopathy | Molecular cytogenetics | | | 2014 | 681 | 212 |
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| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | | 2014 | 704 | 4 |
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| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | | 2014 | 710 | 2 |
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| Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster | Genome research | | | 2014 | 671 | 0 |
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| Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes | PloS one | | | 2014 | 772 | 507 |
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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 | 730 | 337 |
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| Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications | | | 2014 | 775 | 274 |
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| Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | EMBO molecular medicine | | | 2014 | 755 | 585 |
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| Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations | Nature communications | | | 2014 | 651 | 237 |
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| Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia | Bone | | | 2014 | 620 | 0 |
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| Copy number variants and therapeutic response to antidepressant medication in major depressive disorder | Pharmacogenomics journal | | | 2014 | 626 | 0 |
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| 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 | 644 | 0 |
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| Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife | | | 2013 | 780 | 545 |
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| TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm | Retrovirology | | | 2013 | 621 | 372 |
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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 | 590 | 0 |
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| 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 | 220 | 120 |
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| A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas | Cancer research | | | 2012 | 721 | 1 |
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| Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma | Nature genetics | | | 2012 | 687 | 3 |
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| 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 | 753 | 480 |
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| 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 | 242 | 0 |
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| Role of Type II Transmembrane Serine Proteases in Hearing Loss | | | | 2011 | 840 | 9 |
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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 | 555 | 0 |
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| Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences | PloS one | | | 2011 | 680 | 457 |
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| Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice | Neuroreport | | | 2010 | 609 | 593 |
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| 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 | 618 | 0 |
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| Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family | Epilepsy research | | | 2010 | 638 | 0 |
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| 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 | 750 | 1 |
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| Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies | PLOS genetics | | | 2010 | 721 | 543 |
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| Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behavior | American journal of medical genetics. Part B, Neuropsychiatric genetics | | | 2009 | 750 | 1 |
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| 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy | Nature genetics | | | 2009 | 628 | 2 |
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| TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness | Frontiers in bioscience | | | 2008 | 941 | 778 |
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| An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss | Human mutation | | | 2008 | 598 | 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 | 686 | 0 |
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| Association of the connexin36 gene with juvenile myoclonic epilepsy | Journal of medical genetics | | | 2004 | 617 | 0 |
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| The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development | Genomics | | | 2004 | 594 | 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 | 657 | 0 |
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| Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12 | Gene | | | 2003 | 657 | 0 |
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| Nineteen additional unpredicted transcripts from human chromosome 21 | Genomics | | | 2002 | 744 | 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 | 658 | 0 |
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| Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness | Human mutation | | | 2001 | 661 | 1 |
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| Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP | Nature cell biology | | | 2001 | 645 | 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 | 607 | 384 |
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| From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map | Genomics | | | 2001 | 638 | 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 | 649 | 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 | 634 | 306 |
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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 | 621 | 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 | 645 | 0 |
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| Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) | Human genetics | | | 1999 | 713 | 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 | 571 | 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 | 628 | 0 |
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| Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1 | Human genetics | | | 1998 | 552 | 0 |
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| 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 | 571 | 0 |
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