Cyril Mignot - Concepedia

Author

Cyril Mignot

Also Known As

Aude Charollais, Britta Schlott Kristiansen, C Mignot, C. Mignot, Caroline Mignot, Caroline Rooryck, Cecile Mignot, Christel Depienne, Claire Mignot, Clare Mignot

394

Publications

16.5K

Citations

H-Index

165

Concepts

All Affiliations

Sorbonne Université Assistance Publique – Hôpitaux de Paris Inserm Hôpital Armand-Trousseau Pitié-Salpêtrière Hospital

About

Cyril Mignot is an author at Sorbonne Université specializing in medicine, genetics, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	40	74	6.5K
2	Health Sciences	6	6	441
3	Natural Sciences	3	3	254
4	Education	2	2	120
5	Engineering	2	2	76

Cyril Mignot

165

Publications

12.8K

Citations

H-Index

Page 1

	Year	Citations
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature Gillian Rice, Paul R. Kasher, Gabriella Forte, Nature Genetics Autoimmune DiseaseGenetic DisorderGeneticsPathogenesisImmunology	2012	916
Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency Armanda Casrouge, Shen‐Ying Zhang, Céline Eidenschenk, Science Sporadic Viral EncephalitisImmunodeficienciesViral PathogenesisImmunologyPathology	2006	752
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson, Nature Genetics	2014	582
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Brain	2017	558
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, The American Journal of Human Genetics X-linked Dominant FormGenetic DisorderGeneticsGenomic MechanismMolecular Biology	2012	358
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis Elisavet Fotiou, Silvia Martin‐Almedina, Michael A. Simpson, Nature Communications	2015	316
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, The American Journal of Human Genetics Neurodevelopmental DisordersMendelian DisorderEpigenetic ChangeGeneticsDna Methylation	2020	309
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities Debra D’Angelo, Sébastien Lebon, Qixuan Chen, JAMA Psychiatry	2015	290
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Journal of Medical Genetics	2017	249
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation Susan J. Hayflick, Michael C. Kruer, Allison Gregory, Brain Neurological DisorderCorticobasal DegenerationBrain Iron AccumulationNeurochemical BiomarkersSocial Sciences	2013	246

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