Christine Coubes - Concepedia

Author

Christine Coubes

Also Known As

Arsalan Ahmad, Auriane Cospain, C Coubes, C. Coubes, Christine Coubes, Coubes, C., E Colin, Juliette Coursimault, Patricia Blanchet, Sophie Cotteret

124

Publications

3.3K

Citations

H-Index

Concepts

All Affiliations

Inserm Hôpital Arnaud de Villeneuve Assistance Publique – Hôpitaux de Paris Centre National de la Recherche Scientifique Sorbonne Université

About

Christine Coubes is an author at Inserm specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	24	32	1.2K
2	Social Sciences	5	5	227
3	Public Health	4	4	98
4	Engineering	1	1	27
5	Health Sciences	1	1	19

Christine Coubes

Publications

Citations

H-Index

Page 1

	Year	Citations
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis) Sylvie Grandemange, Elodie Sanchez, Pascale Louis‐Plence, Annals of the Rheumatic Diseases	2016	220
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients Marie Vincent, David Geneviève, Agnès Ostertag, Genetics in Medicine Large SeriesCollins SyndromeMolecular StudyPathology	2015	159
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum Victoria Parker, Kim M. Keppler‐Noreuil, Laurence Faivre, Genetics in Medicine	2018	150
Phenotypic spectrum associated with <i>CASK</i> loss-of-function mutations Ute Moog, Kerstin Kutsche, Fanny Kortüm, Journal of Medical Genetics	2011	136
<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond Carla Marini, Alessandro Porro, Agnès Rastetter, Brain	2018	134
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing Paul Kuentz, Judith St‐Onge, Yannis Duffourd, Genetics in Medicine Molecular DiagnosisGenetic TestingMendelian DisorderGenetic DisorderMedicine	2017	133
Deep brain stimulation in myoclonus–dystonia syndrome Laura Cif, Enza Maria Valente, Simone Hemm, Movement Disorders	2004	113
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation Laura Cif, Diane Demailly, Jean‐Pierre Lin, Brain	2020	94
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations Gabriela Jones, Pia Østergaard, Anthony T. Moore, European Journal of Human Genetics Genetic DisorderKif11 MutationsPathologyMedical GeneticsNeurology	2013	90
Deep brain stimulation for Huntington's disease: long-term results of a prospective open-label study Victoria González, Laura Cif, B. Biolsi, Journal of neurosurgery	2014	89

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