| Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity | Scientific reports | | | 2022 | 233 | 230 |
|
| Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency | Human Molecular Genetics | | | 2020 | 418 | 1 |
|
| Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics | | | 2018 | 80 | 106 |
|
| 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 | 557 |
|
| The effect of genetic variation on promoter usage and enhancer activity | Nature Communications | | | 2017 | 377 | 226 |
|
| 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 |
|
| Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel | Swiss Medical Weekly | | | 2017 | 525 | 253 |
|
| Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia | American journal of human genetics | | | 2016 | 657 | 462 |
|
| Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree | Human genomics | | | 2016 | 559 | 341 |
|
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | | 2016 | 749 | 354 |
|
| Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma | Human genome meeting 2016 | | | 2016 | 9 | 24 |
|
| Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma | Nature genetics | | | 2016 | 886 | 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 | 614 | 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 | 690 | 358 |
|
| Galanin pathogenic mutations in temporal lobe epilepsy | Human molecular genetics | | | 2015 | 558 | 0 |
|
| CATCHing putative causative variants in consanguineous families | BMC bioinformatics | | | 2015 | 627 | 222 |
|
| Biased allelic expression in human primary fibroblast single cells | American journal of human genetics | | | 2015 | 612 | 0 |
|
| Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders | Genome research | | | 2015 | 555 | 2 |
|
| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | | | 2015 | 667 | 472 |
|
| HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation | Nature | | | 2015 | 565 | 0 |
|
| Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21 | Stem cells | | | 2015 | 736 | 607 |
|
| Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant | Hormone research in paediatrics | | | 2015 | 576 | 2 |
|
| Next generation diagnostics on cardiomyopathy | Molecular cytogenetics | | | 2014 | 681 | 219 |
|
| Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders | Clinical genetics | | | 2014 | 751 | 0 |
|
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | | 2014 | 704 | 4 |
|
| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | | 2014 | 710 | 2 |
|
| Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster | Genome research | | | 2014 | 671 | 0 |
|
| Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes | PloS one | | | 2014 | 772 | 508 |
|
| 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 |
|
| Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | Genomics data | | | 2014 | 565 | 1 |
|
| Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications | | | 2014 | 775 | 274 |
|
| 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 | 586 |
|
| Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations | Nature communications | | | 2014 | 651 | 238 |
|
| Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia | Bone | | | 2014 | 620 | 0 |
|
| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | Genome research | | | 2013 | 751 | 692 |
|
| TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm | Retrovirology | | | 2013 | 621 | 374 |
|
| 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 |
|
| Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome | Blood | | | 2013 | 682 | 0 |
|
| A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas | Cancer research | | | 2012 | 721 | 1 |
|
| TRIM5 is an innate immune sensor for the retrovirus capsid lattice | Nature | | | 2011 | 533 | 1 |
|
| Deciphering the code for retroviral integration site selection | | | | 2011 | 1,686 | 78 |
|
| Deciphering the code for retroviral integration target site selection | PLoS computational biology | | | 2010 | 698 | 318 |
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