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| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity | Scientific reports |  | 2022 | 176 | 92 | ||
| Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency | Human Molecular Genetics |  | 2020 | 322 | 1 | ||
| Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics online | | 2018 | 28 | 19 | ||
| 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 | 391 | 260 | ||
| The effect of genetic variation on promoter usage and enhancer activity | Nature Communications | | 2017 | 329 | 146 | ||
| 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 | 555 | 192 | ||
| Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel | Swiss Medical Weekly | | 2017 | 476 | 197 | ||
| Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia | American journal of human genetics | | 2016 | 579 | 281 | ||
| Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree | Human genomics | | 2016 | 485 | 209 | ||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | 2016 | 656 | 220 | ||
| Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma | Nature genetics | | 2016 | 760 | 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 | 525 | 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 | 631 | 284 | ||
| Galanin pathogenic mutations in temporal lobe epilepsy | Human molecular genetics | | 2015 | 482 | 0 | ||
| CATCHing putative causative variants in consanguineous families | BMC bioinformatics | | 2015 | 573 | 185 | ||
| Biased allelic expression in human primary fibroblast single cells | American journal of human genetics |  | 2015 | 557 | 0 | ||
| Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders | Genome research | | 2015 | 466 | 2 | ||
| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | | 2015 | 579 | 440 | ||
| HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation | Nature | | 2015 | 488 | 0 | ||
| Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21 | Stem cells | | 2015 | 624 | 391 | ||
| Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant | Hormone research in paediatrics | | 2015 | 527 | 2 | ||
| Next generation diagnostics on cardiomyopathy | Molecular cytogenetics | | 2014 | 615 | 173 | ||
| Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders | Clinical genetics | | 2014 | 645 | 0 | ||
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | 2014 | 645 | 4 | ||
| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | 2014 | 628 | 2 | ||
| Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster | Genome research | | 2014 | 591 | 0 | ||
| Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes | PloS one | | 2014 | 702 | 439 | ||
| 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 | 666 | 278 | ||
| Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | Genomics data | | 2014 | 499 | 1 | ||
| Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications | | 2014 | 696 | 184 | ||
| Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | EMBO molecular medicine | | 2014 | 682 | 400 | ||
| Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations | Nature communications | | 2014 | 603 | 178 | ||
| Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia | Bone | | 2014 | 569 | 0 | ||
| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | Genome research | | 2013 | 679 | 497 | ||
| TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm | Retrovirology | | 2013 | 566 | 226 | ||
| 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 | 486 | 0 | ||
| Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome | Blood | | 2013 | 599 | 0 | ||
| A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas | Cancer research | | 2012 | 659 | 1 | ||
| TRIM5 is an innate immune sensor for the retrovirus capsid lattice | Nature | | 2011 | 463 | 1 | ||
| Deciphering the code for retroviral integration site selection | | 2011 | 1,485 | 37 | |||
| Deciphering the code for retroviral integration target site selection | PLoS computational biology | | 2010 | 644 | 285 |
