Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing

Béryl Royer‐Bertrand, Matteo Torsello, Donata Rimoldi, +15

The American Journal of Human Genetics

MedicineGeneticsPhotocarcinogenesisMelanomaGenomics +3

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, +13

Nature Communications

GeneticsGenetic EpidemiologyPathologyHigh Performance HomozygosityDisease Gene Identification +21

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders

Mathieu Quinodoz, Béryl Royer‐Bertrand, Katarina Cisarova, +3

The American Journal of Human Genetics

Genome-wide Association StudyFunctional GenomicsGeneticsComputational BiologyStatistical Genetics +9

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, +6

The American Journal of Human Genetics

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

Konstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, +24

The American Journal of Human Genetics

Primary-cilia DefectsGenetic DisorderGeneticsHearing Loss AssociatedPathology +3

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

Béryl Royer‐Bertrand, Katarina Cisarova, Florence Niel‐Bütschi, +3

Genes

Cnv AnalysisGeneticsDiagnosisPathologyDisease Gene Identification +18

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

Virginie G. Peter, Karolina Kamińska, Cristina Santos, +10

PNAS Nexus

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, +25

Nature Communications

Genomic and transcriptomic landscape of conjunctival melanoma

Katarina Cisarova, Marc Folcher, Ikram El Zaoui, +11

PLoS Genetics

BioinformaticsConjunctival Melanoma CellsSystems BiologyEngineeringConjunctival Melanoma +12

A Missense Mutation in the Rabbit Melanocortin 4 Receptor (MC4R) Gene is Associated with Finisching Weight in a Meat Rabbit Line

Luca Fontanesi, Emilio Scotti, Katarina Cisarova, +4

Animal Biotechnology

GeneticsFinisching WeightMolecular GeneticsAnimal GeneticsMammalogy +19