| Immunodeficiency and lymphoma in Jacobsen syndrome | Journal of investigational allergology & clinical immunology |  | | 2022 | 339 | 393 |
|
| Hyaline cartilage microtissues engineered from adult dedifferentiated chondrocytes: safety and role of WNT signaling | Stem cells translational medicine | | | 2022 | 456 | 217 |
|
| 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 | 350 | 299 |
|
| Gestational trophoblastic disease in Switzerland: retrospective study of the impact of a regional reference centre | Swiss Medical Weekly | | | 2021 | 343 | 193 |
|
| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation | | | 2021 | 381 | 526 |
|
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | | 2021 | 171 | 114 |
|
| Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase | Human Genomics | | | 2020 | 490 | 350 |
|
| The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice | PLOS ONE | | | 2020 | 342 | 272 |
|
| Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion | Molecular Psychiatry |  | | 2020 | 428 | 3 |
|
| Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor | Stem cell research | | | 2020 | 255 | 216 |
|
| 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 | 408 | 239 |
|
| 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 |
|
| A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis | Sexual development | | | 2015 | 756 | 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 | 655 | 0 |
|
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | | 2014 | 704 | 4 |
|
| 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 |
|
| High resolution microarray investigation in patients with developmental delay and/or multiple congenital anomalies: delineation of new candidates regions on the human genome | |  | | 2013 | 698 | 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 | 644 | 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 | 220 | 120 |
|
| 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 | 686 | 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 | 694 | 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 | 732 | 0 |
|
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Nature | | | 2011 | 813 | 2 |
|
