Stéphanie Tomé - Concepedia

Author

Stéphanie Tomé

University of Toronto ORCID

Also Known As

Dion, Vincent, Lucie Poggi, S. Rojas Tomé, S. Tomé, Stephanie Tomé, Stéphanie Tomé, Tomé, Stéphanie

Publications

904

Citations

H-Index

Concepts

All Affiliations

University of Toronto Inserm Hospital for Sick Children Université Paris Cité Sorbonne Université

About

Stéphanie Tomé is an author at University of Toronto specializing in medicine, genetics, and cell biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	470
2	Cell Biology	3	3	248
3	Natural Sciences	2	2	73
4	Molecular Biology	2	2	73
5	Immunology	1	1	34

Stéphanie Tomé

Publications

829

Citations

H-Index

Page 1

	Year	Citations
MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice Stéphanie Tomé, Kevin Manley, Jodie P. Simard, PLoS Genetics Cag ExpansionsGeneticsGenetic EpidemiologyGenomic MechanismMolecular Genetics	2013	171
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues Arturo López Castel, Masayuki Nakamori, Stéphanie Tomé, Human Molecular Genetics ChromatinDevelopmental BiologyGenetic DisorderMedicineGenetics	2010	151
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy Lise Barbé, Stella Lanni, Arturo López Castel, The American Journal of Human Genetics	2017	98
MSH2 ATPase Domain Mutation Affects CTG•CAG Repeat Instability in Transgenic Mice Stéphanie Tomé, Ian Holt, Winfried Edelmann, PLoS Genetics	2009	97
Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus John D. Cleary, Stéphanie Tomé, Arturo López Castel, Nature Structural & Molecular Biology ChromatinGenome InstabilityGenetic DisorderNatural SciencesGenetics	2010	63
Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice Mirella Lo Scrudato, Karine Poulard, Célia Sourd, Molecular Therapy	2019	55
Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age Amanda G. Mason, Stéphanie Tomé, Jodie P. Simard, Human Molecular Genetics	2013	52
Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1 Antoine Mangin, Laure de Pontual, Yu‐Chih Tsai, International Journal of Molecular Sciences GeneticsPathologyRepeat InterruptionsDm1 LocusDisease Gene Identification	2021	41
Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism Stéphanie Tomé, Elodie Dandelot, Céline Dogan, Human Mutation	2018	39
Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissues Stéphanie Tomé, Jodie P. Simard, Meghan M. Slean, DNA repair Knockout MouseConnective Tissue DiseaseMultiple Mouse TissuesImmunologyMedicine	2012	34

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