Céline Huber - Concepedia

Author

Céline Huber

Inserm ORCID

Also Known As

C HUBER, C Huber, C. Huber, Celine Huber, Celine Huber-Lequesne, Céline Huber, Céline Huber-Lequesne, Huber Céline

Publications

4.1K

Citations

H-Index

Concepts

All Affiliations

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

About

Céline Huber is an author at Inserm specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	28	2K
2	Arts	1	1	13
3	Engineering	1	1	62
4	Natural Sciences	1	1	67
5	Biochemistry	1	1	67

Céline Huber

Publications

3.4K

Citations

H-Index

Page 1

	Year	Citations
ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsAdamts10 MutationsGenetic Epidemiology	2004	278
DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III Nathalie Dagoneau, Marie Goulet, David Geneviève, The American Journal of Human Genetics Genetic DisorderGeneticsShort Rib-polydactyly SyndromePathologyDegenerative Disease	2009	255
Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome Nathalie Dagoneau, Déborah Scheffer, Céline Huber, The American Journal of Human Genetics Genetic DisorderGeneticsPathologyDisease Gene IdentificationMedicine	2004	183
Identification of mutations in CUL7 in 3-M syndrome Céline Huber, Dora Dias‐Santagata, Anna Glaser, Nature Genetics Genetic DisorderPathology3-M SyndromeDisease Gene IdentificationMolecular Diagnostics	2005	172
The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy P Burlet, Céline Huber, Solange Bertrandy, Human Molecular Genetics	1998	147
High incidence of SHOX anomalies in individuals with short stature Céline Huber Journal of Medical Genetics	2006	138
A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis Sara Benito‐Sanz, N. Simon Thomas, Céline Huber, The American Journal of Human Genetics PathogenesisHistopathologyPathologyDeletions DownstreamGeneral Pathology	2005	133
XYLT1 Mutations in Desbuquois Dysplasia Type 2 Catherine Bui, Céline Huber, Beyhan Tüysüz, The American Journal of Human Genetics Mendelian DisorderXylt1 MutationsGenetic DisorderGeneticsMolecular Genetics	2014	113
Identification of CANT1 Mutations in Desbuquois Dysplasia Céline Huber, Bénédicte Oulès, Marta Bértoli, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsPathologyMolecular Genetics	2009	103
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome Caroline Alby, Kevin Piquand, Céline Huber, The American Journal of Human Genetics Molecular Diagnostic TechniquesMendelian DisorderGenetic DisorderShort-rib Polydactyly SyndromeGenetics	2015	92

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