Marianne Till
Centre National de la Recherche Scientifique(FR)Inserm(FR)Centre Hospitalier Universitaire de Grenoble(FR)Université Grenoble Alpes(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Chromosomal and Genetic Variations
Most-Cited Works
- → Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection(2006)670 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease(1995)226 cited
- → Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases(2009)173 cited
- → Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome(2010)171 cited
- → Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations(2013)115 cited