SF
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance ? | Clinical genetics |  | 2026 | 8 | 35 | ||
| Case report : desmoplakin cardiomyopathy presenting as an inflammatory cardiomyopathy with repeated sudden cardiac arrests | European heart journal. Case reports | | 2024 | 16 | 83 | ||
| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | 2023 | 193 | 133 | ||
| Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment | Child neurology open | | 2023 | 76 | 70 | ||
| Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage | Clinical genetics | | 2023 | 97 | 78 | ||
| Hypophosphatémies de causes rares : approche diagnostique | Revue médicale suisse | | 2023 | 66 | 67 | ||
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | 2021 | 168 | 101 | ||
| Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome) | American Journal of Medical Genetics. A |  | 2020 | 342 | 1 | ||
| Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature | Journal of Medical Case Reports | | 2019 | 439 | 524 | ||
| Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder | Neuropediatrics | | 2018 | 590 | 2 | ||
| Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice | Swiss medical weekly | | 2018 | 42 | 90 | ||
| Defining categories of actionability for secondary findings in next-generation sequencing | Journal of medical ethics | | 2017 | 619 | 0 | ||
| Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome | Neuropediatrics | | 2016 | 573 | 0 | ||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | 2016 | 745 | 310 | ||
| Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach | Swiss medical weekly | | 2015 | 168 | 203 | ||
| High throughput sequencing for the diagnosis of inherited hypertrophic cardiomyopathy and other mendelian cardiac disorders | | 2015 | 438 | 2 | |||
| Next generation diagnostics on cardiomyopathy | Molecular cytogenetics | | 2014 | 678 | 208 | ||
| Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders | Clinical genetics | | 2014 | 747 | 0 | ||
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | 2014 | 700 | 4 | ||
| Are abdominal wall defects and external genitalia anomalies randomly expressed in some families? | Congenital anomalies | | 2011 | 645 | 0 | ||
| Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report | Genetics in medicine | | 2011 | 662 | 2 | ||
| Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice | Journal of medical genetics | | 2011 | 675 | 0 | ||
| Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion | Pediatric and developmental pathology | | 2010 | 725 | 0 | ||
| A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy | Human mutation | | 2008 | 757 | 0 | ||
| Prenatal diagnostic indicators of paternal uniparental disomy 14 | Prenatal diagnosis | | 2006 | 539 | 0 | ||
| L'apport de la génétique moléculaire en cardiologie clinique : l'exemple de la cardiomyopathie hypertrophique | Revue médicale suisse | | 2005 | 576 | 1 | ||
| FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients | American journal of medical genetics. Part A | | 2003 | 752 | 0 | ||
| Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients | American journal of medical genetics | | 1997 | 659 | 0 |
