Rosanna Gobert-Pescini
Lausanne, VD 1015, Switzerland
Last Updated: 09/26/2026
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Found 10 publications
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Journal: PNAS nexus
Published: August 24, 2022
Genomic and transcriptomic landscape of conjunctival melanoma.
Journal: PLoS genetics
Published: February 21, 2020
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Journal: Nature
Published: October 05, 2019
Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways Inhibition.
Journal: Investigative ophthalmology & visual science
Published: June 28, 2019
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 14, 2019
Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing.
Journal: American journal of human genetics
Published: July 22, 2016
A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia.
Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience
Published: April 17, 2015
Immunohistochemical detection of sphingosine-1-phosphate receptor 1 and 5 in human multiple sclerosis lesions.
Journal: Neuropathology and applied neurobiology
Published: September 26, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026