MG
Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
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Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | 2023 | 65 | 4 | |||
Variable Intrafamilial Expression of ABCB4 Disease | ACG case reports journal | 2023 | 42 | 11 | |||
Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster | Haemophilia | 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 family | Haematologica | 2022 | 243 | 101 | |||
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation | 2021 | 285 | 136 | |||
Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | 2021 | 224 | 158 | |||
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders | Genetics in medicine | 2021 | 53 | 6 | |||
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | 2021 | 110 | 33 | |||
SCN8A heterozygous variants are associated with anoxic-epileptic seizures | American Journal of Medical Genetics. A | 2020 | 169 | 1 | |||
LARS2-Perrault syndrome: a new case report and literature review | BMC Medical Genetics | 2020 | 331 | 198 | |||
MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination | Annals of Clinical and Translational Neurology | 2020 | 154 | 93 | |||
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome) | American Journal of Medical Genetics. A | 2020 | 252 | 1 | |||
Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes | Pediatric Diabetes | 2019 | 299 | 3 | |||
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder | Neuropediatrics | 2018 | 488 | 2 | |||
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay | Genetics in Medicine | 2018 | 486 | 196 | |||
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics online | 2018 | 21 | 6 | |||
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 | 373 | 217 | |||
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 | 490 | 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 | 541 | 187 | |||
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | 2017 | 474 | 2 | |||
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia | American journal of human genetics | 2016 | 565 | 268 | |||
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree | Human genomics | 2016 | 473 | 203 | |||
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | 2016 | 632 | 209 | |||
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma | Nature genetics | 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 | 2015 | 509 | 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 | 620 | 283 | |||
Galanin pathogenic mutations in temporal lobe epilepsy | Human molecular genetics | 2015 | 471 | 0 | |||
Biased allelic expression in human primary fibroblast single cells | American journal of human genetics | 2015 | 544 | 0 | |||
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | 2015 | 570 | 435 | |||
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics | 2015 | 623 | 223 | |||
Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21 | Stem cells | 2015 | 607 | 365 | |||
Familial epilepsy in Algeria: Clinical features and inheritance profiles | Seizure | 2015 | 511 | 0 | |||
Next generation diagnostics on cardiomyopathy | Molecular cytogenetics | 2014 | 606 | 168 | |||
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | 2014 | 631 | 4 | |||
Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | 2014 | 615 | 2 | |||
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster | Genome research | 2014 | 575 | 0 | |||
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes | PloS one | 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 Signaling | PLOS genetics | 2014 | 648 | 272 | |||
Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications | 2014 | 687 | 169 | |||
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | EMBO molecular medicine | 2014 | 670 | 390 | |||
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations | Nature communications | 2014 | 591 | 174 | |||
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia | Bone | 2014 | 562 | 0 | |||
Copy number variants and therapeutic response to antidepressant medication in major depressive disorder | Pharmacogenomics journal | 2014 | 525 | 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 | 573 | 0 | |||
Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife | 2013 | 639 | 430 | |||
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm | Retrovirology | 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 Dyskinesia | American journal of human genetics | 2013 | 476 | 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 | 144 | 56 | |||
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas | Cancer research | 2012 | 646 | 1 | |||
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma | Nature genetics | 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-analysis | PLoS medicine | 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 epilepsy | Human mutation | 2012 | 156 | 0 | |||
Role of Type II Transmembrane Serine Proteases in Hearing Loss | 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 hearing | The Journal of biological chemistry | 2011 | 483 | 0 | |||
Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences | PloS one | 2011 | 612 | 372 | |||
Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice | Neuroreport | 2010 | 541 | 511 | |||
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 | 567 | 0 | |||
Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family | Epilepsy research | 2010 | 569 | 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 | 649 | 1 | |||
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies | PLOS genetics | 2010 | 604 | 349 | |||
Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behavior | American journal of medical genetics. Part B, Neuropsychiatric genetics | 2009 | 648 | 1 | |||
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy | Nature genetics | 2009 | 522 | 2 | |||
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness | Frontiers in bioscience | 2008 | 766 | 472 | |||
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss | Human mutation | 2008 | 471 | 0 | |||
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin | Human mutation | 2004 | 586 | 0 | |||
Association of the connexin36 gene with juvenile myoclonic epilepsy | Journal of medical genetics | 2004 | 546 | 0 | |||
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development | Genomics | 2004 | 513 | 0 | |||
Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling | Biochimica et biophysica acta | 2003 | 572 | 0 | |||
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12 | Gene | 2003 | 579 | 0 | |||
Nineteen additional unpredicted transcripts from human chromosome 21 | Genomics | 2002 | 646 | 0 | |||
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro | Human molecular genetics | 2002 | 590 | 0 | |||
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness | Human mutation | 2001 | 589 | 1 | |||
Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP | Nature cell biology | 2001 | 523 | 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 | 540 | 276 | |||
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map | Genomics | 2001 | 561 | 0 | |||
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness | Nature genetics | 2001 | 540 | 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 | 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 region | Genomics | 2000 | 561 | 0 | |||
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning | Genomics | 2000 | 573 | 0 | |||
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) | Human genetics | 1999 | 607 | 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 | 515 | 0 | |||
Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon | Genomics | 1998 | 557 | 0 | |||
Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1 | Human genetics | 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 sequence | Human genetics | 1998 | 498 | 0 |