Katarina Cisarova

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 8

Top Topics

Mitochondrial Dna

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Virginie G Peter, Karolina Kaminska, Cristina Santos, Mathieu Quinodoz, Francesca Cancellieri, Katarina Cisarova, Rosanna Pescini Gobert, Raquel Rodrigues, Sónia Custódio, Liliana P Paris, Ana-Berta Sousa, Luísa Coutinho Santos, Carlo Rivolta
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus 2 (3) (2023)
Virginie G Peter, Karolina Kaminska, Cristina Santos, Mathieu Quinodoz, Francesca Cancellieri, Katarina Cisarova, Rosanna Pescini Gobert, Raquel Rodrigues, Sónia Custódio, Liliana P Paris, Ana-Berta Sousa, Luísa Coutinho Santos, Carlo Rivolta
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus 2 (3) (2023)
Katya Nardou, Michael Nicolas, Fabien Kuttler, Katarina Cisarova, Elifnaz Celik, Mathieu Quinodoz, Nicolo Riggi, Olivier Michielin, Carlo Rivolta, Gerardo Turcatti, Alexandre Pierre Moulin
Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening. Cancers 14 (6) (2022)
Beryl Royer-Bertrand, Katarina Cisarova, Florence Niel-Butschi, Laureane Mittaz-Crettol, Heidi Fodstad, Andrea Superti-Furga
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations. Genes 12 (9) (2021)
Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill Anne Rosenfeld, Jennifer A Bassetti, Oana Moldovan, Emily O'Heir, Lindsay C Burrage, Jake Allen, Lisa T Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, null null, Nadia Chabane, Elaine H Zackai, Sebastien Lebon, Beth Keena, Elizabeth Joyce Bhoj, Muhammad Umair, Dong Li, Kirsten Ann Donald, Andrea Superti-Furga
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Molecular autism 12 (1) (2021)
Beryl Royer-Bertrand, Katarina Cisarova, Florence Niel Bütschi, Giovanni Foletti, Vincent Guinchat, Christel Tran, Andrea Superti-Furga, Jean-Marc Good
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures. American journal of medical genetics. Part A 185 (8) (2021)
Katarina Cisarova, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Lara Valeri, Giancarlo Gargano, Sara Gavioli, Gabriele Trimarchi, Alberto Neri, Belinda Campos-Xavier, Andrea Superti-Furga
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia. American journal of medical genetics. Part A (2021)
Katarina Cisarova, Marc Folcher, Ikram El Zaoui, Rosanna Pescini Gobert, Virginie G Peter, Beryl Royer-Bertrand, Leonidas Zografos, Ann Schalenbourg, Michael Nicolas, Donata Rimoldi, Serge Leyvraz, Nicolò Riggi, Alexandre P Moulin, Carlo Rivolta
Genomic and transcriptomic landscape of conjunctival melanoma. PLoS genetics 16 (12) (2020)