Sophie Thomas - Concepedia

Author

Sophie Thomas

Also Known As

S R Thomas, S THOMAS, S Thomas, S. R. Thomas, S. Randall Thomas, S. THOMAS, S. Thomas, S.R Thomas, S.R. Thomas, S.Randall Thomas

212

Publications

6.9K

Citations

H-Index

168

Concepts

All Affiliations

Inserm Université Paris Cité Hôpital Necker-Enfants Malades Assistance Publique – Hôpitaux de Paris Délégation Paris 5

About

Sophie Thomas is an author at Inserm specializing in medicine, physiology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	36	66	4.7K
2	Health Sciences	11	12	425
3	Engineering	10	10	473
4	Natural Sciences	3	3	394
5	Management	1	1	12

Sophie Thomas

106

Publications

6.4K

Citations

H-Index

Page 1

	Year	Citations
Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries Valentina Boeva, Caroline Louis‐Brennetot, Agathe Peltier, Nature Genetics Neuro-oncologyLineage PlasticityDevelopmental BiologyNeuroblastoma Cell IdentityCell Biology	2017	492
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence Sabina Benko, Judy Fantes, Jeanne Amiel, Nature Genetics Sequence MotifComparative GenomicsGeneticsMedicineSequence Analysis	2009	433
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli, Nature Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsMolecular Genetics	2010	281
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes Audrey Putoux, Sophie Thomas, Karlien L. M. Coene, Nature Genetics Developmental AnomalyMendelian DisorderKif7 MutationsGenetic DisorderGenetics	2011	239
Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6 Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, The American Journal of Human Genetics Developmental AnomalyMendelian DisorderGenetic DisorderGeneticsPathology	2007	200
Disruption of a long distance regulatory region upstream of <i>SOX9</i> in isolated disorders of sex development Sabina Benko, Christopher T. Gordon, Delphine Mallet, Journal of Medical Genetics	2011	188
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
A vision and strategy for the virtual physiological human in 2010 and beyond Peter Hunter, Peter V. Coveney, Bernard de Bono, Philosophical Transactions of the Royal Society A Mathematical Physical and Engineering Sciences EngineeringSystem MedicineWearable TechnologyVph NetworkComputer-mediated Reality	2010	159
TCTN3 Mutations Cause Mohr-Majewski Syndrome Sophie Thomas, Marine Legendre, Sophie Saunier, The American Journal of Human Genetics	2012	137
A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre, Human Mutation NeurogenomicsJoubert SyndromeLysosomal Storage DiseaseGeneticsMolecular Biology	2013	126

Page 1