| Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance ? | Clinical genetics |  | | 2026 | 12 | 248 |
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| Case report : desmoplakin cardiomyopathy presenting as an inflammatory cardiomyopathy with repeated sudden cardiac arrests | European heart journal. Case reports | | | 2024 | 20 | 146 |
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| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | | 2023 | 198 | 193 |
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| Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment | Child neurology open | | | 2023 | 79 | 82 |
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| Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage | Clinical genetics | | | 2023 | 101 | 89 |
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| Hypophosphatémies de causes rares : approche diagnostique | Revue médicale suisse | | | 2023 | 70 | 70 |
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| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | | 2021 | 171 | 113 |
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| Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome) | American Journal of Medical Genetics. A |  | | 2020 | 346 | 1 |
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| 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 | 447 | 563 |
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| Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder | Neuropediatrics | | | 2018 | 593 | 2 |
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| Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice | Swiss medical weekly | | | 2018 | 48 | 108 |
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| Defining categories of actionability for secondary findings in next-generation sequencing | Journal of medical ethics | | | 2017 | 623 | 0 |
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| Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome | Neuropediatrics | | | 2016 | 577 | 0 |
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| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | | 2016 | 749 | 353 |
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| Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach | Swiss medical weekly | | | 2015 | 171 | 273 |
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| High throughput sequencing for the diagnosis of inherited hypertrophic cardiomyopathy and other mendelian cardiac disorders | | | | 2015 | 441 | 2 |
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| Next generation diagnostics on cardiomyopathy | Molecular cytogenetics | | | 2014 | 681 | 214 |
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| Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders | Clinical genetics | | | 2014 | 751 | 0 |
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| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | | 2014 | 704 | 4 |
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| Are abdominal wall defects and external genitalia anomalies randomly expressed in some families? | Congenital anomalies | | | 2011 | 648 | 0 |
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| Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report | Genetics in medicine | | | 2011 | 665 | 2 |
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| Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice | Journal of medical genetics | | | 2011 | 678 | 0 |
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| Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion | Pediatric and developmental pathology | | | 2010 | 728 | 0 |
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| A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy | Human mutation | | | 2008 | 760 | 0 |
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| Prenatal diagnostic indicators of paternal uniparental disomy 14 | Prenatal diagnosis | | | 2006 | 542 | 0 |
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| L'apport de la génétique moléculaire en cardiologie clinique : l'exemple de la cardiomyopathie hypertrophique | Revue médicale suisse | | | 2005 | 579 | 1 |
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| FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients | American journal of medical genetics. Part A | | | 2003 | 755 | 0 |
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| Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients | American journal of medical genetics | | | 1997 | 663 | 0 |
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