Marianne Till - Concepedia

Author

Marianne Till

Also Known As

Arthur L. Beaudet, Audrey Labalme, Bogdan Draganski, M Till, M. Till, MARIANNE TILL, Marianne Till, S Guterman, Till, M., Till, Marianne

134

Publications

4.9K

Citations

H-Index

111

Concepts

All Affiliations

Inserm Hospices Civils de Lyon Université Claude Bernard Lyon 1 Centre National de la Recherche Scientifique Assistance Publique – Hôpitaux de Paris

About

Marianne Till is an author at Inserm specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	29	2.5K
2	Public Health	4	4	514
3	Natural Sciences	2	2	216
4	Engineering	1	1	46
5	Health Sciences	1	1	11

Marianne Till

Publications

4.4K

Citations

H-Index

Page 1

	Year	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, Nature Genetics Ribonuclease H2Viral EvolutionGenetic DisorderNeurovirologyGenetics	2006	666
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i> Yanick J. Crow, Diana Chase, Johanna L. Schmidt, American Journal of Medical Genetics Part A	2015	589
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome Gillian Rice, Teresa Patrick, Rekha Parmar, The American Journal of Human Genetics CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype	2007	442
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease Tania Attié‐Bitach, Marianne Till, Anna Pelet, Human Molecular Genetics Mendelian DisorderGenetic DisorderGeneticsPathogenesisInherited Metabolic Disease	1995	226
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, European Journal of Medical Genetics Genetic DisorderGeneticsEvolutionary BiologyChromosomal RearrangementsArray Cgh Study	2009	173
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, The American Journal of Human Genetics Somatic VariantMarshall-smith SyndromeNatural SciencesGeneticsGenetic Disorder	2010	170
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations Caroline Schluth‐Bolard, Audrey Labalme, Marie‐Pierre Cordier, Journal of Medical Genetics	2013	115
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes Claire Redin, Stéphanie Le Gras, O. M'hamdi, Journal of Medical Genetics	2012	113
Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures Jeanne Amiel, Yolanda Espinosa‐Parrilla, Julie Steffann, The American Journal of Human Genetics Smadip1 Truncating MutationsDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2001	110
17p13.1 microdeletion involving the <i>TP53</i> gene in a boy presenting with mental retardation but no tumor Caroline Schluth‐Bolard, Damien Sanlaville, Audrey Labalme, American Journal of Medical Genetics Part A	2010	90

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