FS
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Immunodeficiency and lymphoma in Jacobsen syndrome | Journal of investigational allergology & clinical immunology |  | 2022 | 334 | 272 | ||
| Hyaline cartilage microtissues engineered from adult dedifferentiated chondrocytes: safety and role of WNT signaling | Stem cells translational medicine | | 2022 | 448 | 179 | ||
| 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 | 342 | 230 | ||
| Gestational trophoblastic disease in Switzerland: retrospective study of the impact of a regional reference centre | Swiss Medical Weekly | | 2021 | 336 | 162 | ||
| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation | | 2021 | 376 | 430 | ||
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | 2021 | 165 | 91 | ||
| Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase | Human Genomics | | 2020 | 478 | 273 | ||
| The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice | PLOS ONE | | 2020 | 337 | 218 | ||
| Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion | Molecular Psychiatry |  | 2020 | 419 | 3 | ||
| Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor | Stem cell research | | 2020 | 249 | 156 | ||
| Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease | Stem Cell Research | | 2019 | 403 | 208 | ||
| 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 | 456 | 492 | ||
| A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis | Sexual development | 2015 | 749 | 0 | |||
| Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration | Stem cells | | 2015 | 649 | 0 | ||
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | 2014 | 697 | 4 | ||
| Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications | | 2014 | 771 | 246 | ||
| Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | EMBO molecular medicine | | 2014 | 747 | 507 | ||
| High resolution microarray investigation in patients with developmental delay and/or multiple congenital anomalies: delineation of new candidates regions on the human genome |  | 2013 | 694 | 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 | 637 | 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 | 215 | 106 | ||
| Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? | European journal of medical genetics | | 2012 | 682 | 0 | ||
| Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele | Journal of medical genetics | | 2012 | 690 | 0 | ||
| A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia | European journal of medical genetics | | 2011 | 722 | 0 | ||
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Nature | | 2011 | 806 | 2 |
