MG
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Title Published in Access level OA Policy Year Views Downloads
Utilité clinique des genome boards pour les maladies génétiques complexesRevue médicale suisse
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2023 65 4
Variable Intrafamilial Expression of ABCB4 DiseaseACG case reports journal
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2023 42 11
Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene clusterHaemophilia
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2022 130 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 familyHaematologica
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2022 243 101
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patientsHuman Mutation
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2021 285 136
Benefits of exome sequencing in children with suspected isolated hearing lossGenes
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2021 224 158
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disordersGenetics in medicine
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2021 53 6
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposisClinical genetics
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2021 110 33
SCN8A heterozygous variants are associated with anoxic-epileptic seizuresAmerican Journal of Medical Genetics. A
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2020 169 1
LARS2-Perrault syndrome: a new case report and literature reviewBMC Medical Genetics
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2020 331 198
MCF2 is linked to a complex perisylvian syndrome and affects cortical laminationAnnals of Clinical and Translational Neurology
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2020 154 93
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)American Journal of Medical Genetics. A
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2020 252 1
Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetesPediatric Diabetes
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2019 299 3
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative DisorderNeuropediatrics
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2018 488 2
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delayGenetics in Medicine
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2018 486 196
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3Human molecular genetics online
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2018 21 6
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected motherJournal of Human Genetics
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2018 373 217
New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputationThe Pharmacogenomics Journal
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2018 490 1
No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patientsTranslational Psychiatry
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2017 541 187
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsyAmerican Journal of Medical Genetics. A
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2017 474 2
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaAmerican journal of human genetics
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2016 565 268
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigreeHuman genomics
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2016 473 203
Experience of a multidisciplinary task force with exome sequencing for Mendelian disordersHuman genomics
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2016 632 209
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinomaNature genetics
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2016 736 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
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2015 509 0
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES CellsPloS one
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2015 620 283
Galanin pathogenic mutations in temporal lobe epilepsyHuman molecular genetics
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2015 471 0
Biased allelic expression in human primary fibroblast single cellsAmerican journal of human genetics
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2015 544 0
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic TwinsPloS one
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2015 570 435
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicingPLOS genetics
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2015 623 223
Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21Stem cells
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2015 607 365
Familial epilepsy in Algeria: Clinical features and inheritance profilesSeizure
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2015 511 0
Next generation diagnostics on cardiomyopathyMolecular cytogenetics
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2014 606 168
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesHuman mutation
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2014 631 4
Domains of genome-wide gene expression dysregulation in Down's syndromeNature
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2014 615 2
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMasterGenome research
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2014 575 0
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genesPloS one
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2014 690 431
Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and SignalingPLOS genetics
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2014 648 272
Extrachromosomal driver mutations in glioblastoma and low-grade gliomaNature communications
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2014 687 169
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21EMBO molecular medicine
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2014 670 390
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutationsNature communications
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2014 591 174
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasiaBone
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2014 562 0
Copy number variants and therapeutic response to antidepressant medication in major depressive disorderPharmacogenomics journal
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2014 525 0
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literatureAmerican journal of medical genetics. Part B, Neuropsychiatric genetics
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2013 573 0
Passive and active DNA methylation and the interplay with genetic variation in gene regulationeLife
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2013 639 430
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasmRetrovirology
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2013 558 219
Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary DyskinesiaAmerican journal of human genetics
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2013 476 0
A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous familyBMC genetics
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2013 144 56
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomasCancer research
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2012 646 1
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanomaNature genetics
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2012 614 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-analysisPLoS medicine
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2012 639 444
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsyHuman mutation
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2012 156 0
Role of Type II Transmembrane Serine Proteases in Hearing Loss
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2011 728 7
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearingThe Journal of biological chemistry
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2011 483 0
Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequencesPloS one
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2011 612 372
Thyroxine treatments do not correct inner ear defects in tmprss1 mutant miceNeuroreport
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2010 541 511
SAGE analysis of genes differentially expressed in presymptomatic TgSOD1G93A transgenic mice identified cellular processes involved in early stage of ALS pathologyJournal of molecular neuroscience
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2010 567 0
Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian familyEpilepsy research
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2010 569 0
Simultaneous analysis of serotonin transporter, tryptophan hydroxylase 1 and 2 gene expression in the ventral prefrontal cortex of suicide victimsAmerican journal of medical genetics. Part B, Neuropsychiatric genetics
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2010 649 1
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesPLOS genetics
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2010 604 349
Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behaviorAmerican journal of medical genetics. Part B, Neuropsychiatric genetics
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2009 648 1
15q13.3 microdeletions increase risk of idiopathic generalized epilepsyNature genetics
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2009 522 2
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafnessFrontiers in bioscience
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2008 766 472
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing lossHuman mutation
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2008 471 0
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatinHuman mutation
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2004 586 0
Association of the connexin36 gene with juvenile myoclonic epilepsyJournal of medical genetics
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2004 546 0
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal developmentGenomics
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2004 513 0
Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signalingBiochimica et biophysica acta
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2003 572 0
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12Gene
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2003 579 0
Nineteen additional unpredicted transcripts from human chromosome 21Genomics
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2002 646 0
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitroHuman molecular genetics
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2002 590 0
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafnessHuman mutation
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2001 589 1
Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASPNature cell biology
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2001 523 0
The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene familyHuman genetics
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2001 540 276
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription mapGenomics
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2001 561 0
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafnessNature genetics
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2001 540 0
Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21Human genetics
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2000 571 203
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the regionGenomics
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2000 561 0
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterningGenomics
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2000 573 0
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)Human genetics
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1999 607 0
Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2Cytogenetics and cell genetics
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1998 515 0
Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codonGenomics
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1998 557 0
Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1Human genetics
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1998 486 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 sequenceHuman genetics
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1998 498 0
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