Concepedia
Statistics
Publications
7
Citations
560
H-Index
Active since
2008
Affiliations
Radboud University Medical Center(Current)
Hospital de Cruces
Radboud University Nijmegen
Hospital Universitario Virgen de la Arrixaca
Complejo Hospitalario de Navarra
Claudio Catalli is an author at Radboud University Medical Center specializing in genetics, human genetics, and genetic disorders.
Publications per year
2008–2021
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2
Erik‐Jan Kamsteeg, Claudio Catalli, Jens Michael Hertz et al. · European Journal of Human Genetics · 2012 · 163 citations · Full text
Medicine, Genetics, Molecular Genetics +15
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 160 citations · Full text
Life Sciences, Genetics, Ophthalmology +16
Alpha-protein kinase 3 (<i>ALPK3</i>) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy
Luís R. Lopes, Soledad García-Hernández, Massimiliano Lorenzini et al. · European Heart Journal · 2021 · 102 citations · Full text
Life Sciences, Genetics, Molecular Genetics +10
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients
Annalisa Botta, Fabrizio Rinaldi, Claudio Catalli et al. · Journal of Medical Genetics · 2008 · 58 citations
Life Sciences, Genetics, Molecular Biology +12
Reduced Cancer Incidence in Huntington’s Disease: Analysis in the Registry Study
Paul McNulty, Richard Pilcher, Renata Necuiniate et al. · Journal of Huntington s Disease · 2018 · 37 citations · Full text
Medicine, Oncology, Cancer Epidemiology +16
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