Marianne Till

Centre National de la Recherche Scientifique

Publishes on Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases. 135 papers and 4.9k citations.

135Publications

4.9kTotal Citations

Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Prenatal Screening and Diagnostics Congenital heart defects research

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Top publicationsby citations

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Yanick J. Crow, Andrea Leitch, Bruce E. Hayward et al.|Nature Genetics|2006

Cited by 673

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al.|The American Journal of Human Genetics|2007

Cited by 449Open Access

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

Tania Attié‐Bitach, Marianne Till, Anna Pelet et al.|Human Molecular Genetics|1995

Cited by 226

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

Valérie Malan, Diana Rajan, Sophie Thomas et al.|The American Journal of Human Genetics|2010

Cited by 173Open Access

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

Caroline Schluth‐Bolard, Bruno Delobel, Damien Sanlaville et al.|European Journal of Medical Genetics|2009

Cited by 173Open Access