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- 2026
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2025
- In Memoriam - Albert Schinzel
- Ganzgenom-Sequenzierung enthüllt bislang unbekannte Mutation im KRIT1-Gen
- AI Meets CRISPR for Precise Gene Editing
- CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines
- Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders
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2024
- The primary cilium gene CPLANE1 is required for peripheral nervous system development
- Further delineation of the SCAF4-associated neurodevelopmental disorder
- Festive Season 2024
- Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
- Loss of tissue-type plasminogen activator causes multiple developmental anomalies.
- Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia
- SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
- Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
- SwissGenVar
- Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort
- Entwickelungsgenetik
- Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
- De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
- Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction
- Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
- DPF2-related Coffin-Siris syndrome type 7 in two generations
- Systematic identification of structure-specific protein–protein interactions
- Umstellung des internen Netzwerks am 1. und 2. Mai
- Olfactory Receptor OR2K2 Expression in Human Choroid Plexus
- Easter Closing
- E-mail Outage
- SNUPN deficiency causes a recessive muscular dystrophy
- Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction
- Joubert Syndrome
- Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies
- Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry
- Identification of the DNA methylation signature of Mowat-Wilson syndrome
- RORB-Related Disorder
- PSMC5
- Unveiling DNA methylation in Alzheimer’s disease..
- FBXW7
- 2023
- 2022
- 2021
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Events
- 2026
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- 2024
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2023
- Facharztprüfung
- Tag der Labormedizin 2023
- On 05/10/2023 our company outing will take place and the institute will be closed.
- Amyloidose – Past, Present and Visions for the Future
- Lecture 'Current therapeutic options for cystic fibrosis'
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Lecture
Molecular Genetic Diagnostics in Cardiomyopathies - Lecture Interfaces in paediatric (highly) specialized care of children and adolescents with chronic diseases and disabilities
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Publications
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Articles & Publications
- 2026
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2024
- 1 November 2024
- Publication (14 October 2024)
- Publication (20 September 2024)
- Publikation (5. September 2024)
- Publication (5 September 2024)
- Publication (3 September 2024)
- Publication (19 August 2024)
- Publication (13 August 2024)
- Publication (17 June 2024)
- Genetic Testing of Inherited Retinal Diseases
- Publication (1 June 2024)
- Publication (30 May 2024)
- Publication (16 May 2024)
- Publication (14 May 2024)
- Publication (6 May 2024)
- Publication (3 May 2024)
- Publication (21 March 2024)
- Publication (27 February 2024)
- Publication (22 February 2024)
- Publication (20 February 2024)
- Publication (15 February 2024)
- Publication (15 February 2024)
- 23 January 2024
- 16 January 2024
- 2 January 2024
- 2023
- 2026
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2025
- List of articles ("Exportable")
- Text File - Full List of Articles
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Preprints
- Structure-function relationship of alpha-synuclein fibrillar polymorphs derived from distinct synucleinopathies
- Genotype-Phenotype Correlation in RBM10-Associated Syndromes
- BBSome-Mediated Clearance of Ubiquitinated IMPG2
- CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines
- De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
- Latest Articles
- ZORA Disclaimer
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2024
- List of articles ("Exportable")
- Text File - with all articles
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Preprints
- Hierarchical Genomic Analysis of Susceptibility to Schizophrenia in Sudanese multi-case families
- Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments
- Pythia: Non-random DNA repair allows predictable CRISPR/Cas9 integration and gene editing.
- Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction
- Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system
- Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
- Paediatric Personalized Research Network Switzerland (SwissPedHealth)
- The Primary Cilium Gene Cplane1 is Required for Peripheral Nervous System Development
- Pediatric acute B-lymphoblastic leukemia presenting as hypereosinophilia with lung involvement and elevated IgE levels; a case report
- Latest Articles
- ZORA - Note on Authors
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