Marisol del Rosario
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Retinal Diseases and Treatments, Genetic and phenotypic traits in livestock
Most-Cited Works
- → Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability(2012)1,570 cited
- → A de novo paradigm for mental retardation(2010)851 cited
- → Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders(2016)196 cited
- → Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing(2013)127 cited
- → Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP(2011)99 cited
- → Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration(2016)38 cited
- → Mining for single nucleotide polymorphisms in pig genome sequence data(2009)29 cited
- ESTUDIO Y ANÁLISIS DE FACTIBILIDAD DE LA SOLUCIÓN TIPO SINGLE SIGN-ON PARA PEQUEÑAS Y MEDIANAS EMPRESAS(2015)