Andrea Superti‐Furga
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Early-Onset Retinopathy in Patients With Variants in <i>SLC6A6</i> Leading to Impaired Taurine Transport Open
Importance Inherited retinal dystrophies are a group of disorders that may lead to progressive vision loss. Improved knowledge of their molecular genetics is important for accurate diagnosis or development of targeted therapies. Objective …
Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype Open
Introduction: Blended phenotypes resulting from the contribution of two or more genetic variants to the disease of a patient pose a significant diagnostic challenge. Correlating between the phenotypes and the genotypes of the affected pati…
View article: Recurrent Increased Nuchal Translucency Led to the Identification of Novel <i>NUP107</i> Variants
Recurrent Increased Nuchal Translucency Led to the Identification of Novel <i>NUP107</i> Variants Open
Five percent of fetuses presents increased fetal nuchal translucency. It is a well‐known marker for aneuploidy (T21, Turner syndrome) and a variety of monogenic syndromes such as Noonan syndrome and certain skeletal dysplasias, as well as …
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification Open
A paper published in Orphanet Journal of Rare Diseases proposes a new classification of osteogenesis imperfecta (OI) based upon underlying pathological mechanisms. The proposed numbering of OI types conflicts with the currently used number…
SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland Open
Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows. This includes extensive variant prioritization, annotation, and ti…
View article: Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature Open
In 1990, Gorlin et al. described four types of craniofacial duplications: (1) single mouth with duplication of the maxillary arch; (2) supernumerary mouth laterally placed with rudimentary segments; (3) single mouth with replication of the…
View article: Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148</i> mutations
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148</i> mutations Open
Background Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the ZNF148 gene causing GDACCF syndrome (global developmental delay, absent or hyp…
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome Open
Patients with autosomal dominant (AD) hyper-IgE syndrome (HIES) suffer from a constellation of manifestations including recurrent bacterial and fungal infections, severe atopy, and skeletal abnormalities. This condition is typically caused…
Cardiac hereditary diseases: genetic insights from a single center 15-year experience Open
Funding Acknowledgements Type of funding sources: None. Background In the last decades, the implementation of high-throughput next-generation (NGS) technologies has profoundly changed the landscape of human genome sequencing. However, the …
Cardiogenetics and Artificial Intelligence: the Mutscore Algorithm Open
Funding Acknowledgements Type of funding sources: None. Backgroud The analysis of whole genome, exomes or deputed genes in the context of multigene panels, while being extensively available in routine practice, has raised new challenges in…
View article: Identification of bi‐allelic <i>LFNG</i> variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3
Identification of bi‐allelic <i>LFNG</i> variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 Open
Spondylocostal dysostosis (SCD), a condition characterized by multiple segmentation defects of the vertebrae and rib malformations, is caused by bi‐allelic variants in one of the genes involved in the Notch signaling pathway that tunes the…
Biotinidase deficiency: What have we learned in forty years? Open
Newborn screening has had a major positive impact on the outcome of many individuals with BD. However, undiagnosed and non-treated BD remains a health concern. Given the risk of mortality or complications associated with late or missed dia…
Developmental disorder and spastic paraparesis in two sisters with a <span><i>TCF7L2</i></span> truncating variant inherited from a mosaic mother Open
The Wnt signaling pathway has a key role in controlling numerous biological processes including cell proliferation, differentiation, apoptosis as well as embryonic development (Augustin et al., 2012; Clevers et al., 2014; Lu et al., 2011; …
Nosology of genetic skeletal disorders: 2023 revision Open
The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technolo…
<i>SwissGenVar</i>: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland Open
Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows including the extensive variant prioritization, annotation, and tim…
View article: Natural history of KBG syndrome in a large European cohort
Natural history of KBG syndrome in a large European cohort Open
KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natur…