Andrea Superti‐Furga

Genedata (Switzerland) — Switzerland

Biochemistry, Genetics and Molecular Biology · Life Sciences

82h-index26.3kcitations730works1.92yr avg
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Research Topics

Connective tissue disorders research(216), Bone health and treatments(96), Dermatological and Skeletal Disorders(66), Metabolism and Genetic Disorders(55), Genomics and Rare Diseases(34)

Publications726 total

Early-Onset Retinopathy in Patients With Variants in <i>SLC6A6</i> Leading to Impaired Taurine Transport
JAMA Ophthalmology·2025Open Access
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework
Journal of Bone and Mineral Research·2025
Correction: Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertension
Orphanet Journal of Rare Diseases·2025Open Access
Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome <i>MYH3</i>‐Related
Australasian Journal of Ultrasound in Medicine·2025
In Memory of Jürgen W. Spranger, <scp>MD</scp> (1931‐2025)
American Journal of Medical Genetics Part A·2025
Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy
European Journal of Paediatric Neurology·2025· 1 cited
Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience
Molecular Genetics and Metabolism Reports·2025· 1 citedOpen Access
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort
npj Genomic Medicine·2025· 9 citedOpen Access
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder
The EMBO Journal·2024· 14 citedOpen Access
Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype
Molecular Syndromology·2024· 1 citedOpen Access
Recurrent Increased Nuchal Translucency Led to the Identification of Novel <i>NUP107</i> Variants
American Journal of Medical Genetics Part A·2024Open Access
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification
Orphanet Journal of Rare Diseases·2024· 1 citedOpen Access
SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland
Journal of Personalized Medicine·2024Open Access
Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertension
Orphanet Journal of Rare Diseases·2024· 1 citedOpen Access
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype
European Journal of Medical Genetics·2024· 2 citedOpen Access
Skeletal Dysplasias Caused by Defects in Glycosaminoglycan Sulfation
Biology of extracellular matrix·2024
Review for "CATSHL syndrome, a new family and phenotypic expansion"
2023
Nosology of genetic skeletal disorders: 2023 revision
Yearbook of pediatric endocrinology·2023· 2 cited
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature
Genes·2023· 3 citedOpen Access
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
Journal of Medical Genetics·2023· 5 citedOpen Access
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Frequent Co-authors

Sheila Unger(14), Luisa Bonafé(14), Valérie Cormier‐Daire(11), Matthew L. Warman(10), Gen Nishimura(10), Deborah Krakow(9), Daniel H. Cohn(8), Geert Mortier(6), Ravi Savarirayan(6), Christine M Hall(5), David L. Rimoin(5), David Sillence(5), Bernhard Zabel(5), Carlo Rivolta(5), Belinda Campos‐Xavier(5), Stefan Mundlos(4), Stephen P. Robertson(4), Beat Steinmann(4), Yasemin Alanay(4), Shiro Ikegawa(4)