Céline Huber

4.2k citations

50 papers · 1.9k · h-index 21

Impact in

Genetics top 1%
- Genetic and Kidney Cyst Diseases
- Connective tissue disorders research
- Neurogenetic and Muscular Disorders Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetic Syndromes and Imprinting
Molecular Biology top 10%
- RNA modifications and cancer
- RNA Research and Splicing
- Renal and related cancers

Papers in

Genetics 30
- Connective tissue disorders research 12
- Genetic and Kidney Cyst Diseases 9
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 7
- Neurogenetic and Muscular Disorders Research 4
- Genetic Syndromes and Imprinting 4
Molecular Biology 25
- Ubiquitin and proteasome pathways 5

Co-authors: Valérie Cormier‐Daire (43 shared papers)Arnold Münnich (17 shared papers)Nathalie Dagoneau (6 shared papers)Geneviève Baujat (11 shared papers)Laurence Legeai‐Mallet (2 shared papers)Martine Le Merrer (6 shared papers)S. Lefebvre (2 shared papers)Olivier Clermont (2 shared papers)
Journals: The American Journal of Human Genetics (8 papers)Journal of Medical Genetics (6 papers)Journal of Bone and Mineral Research (4 papers)European Journal of Medical Genetics (3 papers)Human Mutation (3 papers)
Partner nations: France United Kingdom United States

In The Last Decade

Céline Huber

47 papers receiving 1.9k citations

Peers

Countries citing papers authored by Céline Huber

Since Specialization

Citations

This map shows the geographic impact of Céline Huber's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Céline Huber with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Céline Huber more than expected).

Fields of papers citing papers by Céline Huber

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Céline Huber. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Céline Huber. The network helps show where Céline Huber may publish in the future.

Co-authors

The 25 scholars most cited alongside Céline Huber, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Céline Huber Line = papers co-authored together Céline Huber links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 50 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome The American Journal of Human Genetics ·Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, Laurence Faivre, André Mégarbané, Abdulrahman Alswaid, Hélène Dollfus, Yves Alembik, Arnold Münnich, Laurence Legeai‐Mallet, Valérie Cormier‐Daire	2004	210
2	Ciliary disorder of the skeleton American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Céline Huber, Valérie Cormier‐Daire	2012	177
3	DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III The American Journal of Human Genetics ·Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jéléna Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise P. Cavalcanti, Anne‐Lise Delezoide, Valérie Serre, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire	2009	165
4	Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome The American Journal of Human Genetics ·Nathalie Dagoneau, Déborah Scheffer, Céline Huber, L.I. Al-Gazali, Maja Di Rocco, Anne Godard, Jéléna Martinovic, Annick Raas‐Rothschild, Sabine Sigaudy, Sheila Unger, Sophie Nicole, Bertrand Fontaine, Jean‐Luc Taupin, Jean-François Moreau, Andrea Superti‐Furga, Martine Le Merrer, Jacky Bonaventure, Arnold Münnich, Laurence Legeai‐Mallet, Valérie Cormier‐Daire	2004	137
5	The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy Human Molecular Genetics ·P Burlet, Céline Huber, Solange Bertrandy, Marie‐Aline Ludosky, Ingrid Zwaenepoel, Olivier Clermont, J. Roume, A. L. Delezoide, Jean Cartaud, Arnold Münnich, S. Lefebvre	1998	122
6	High incidence of SHOX anomalies in individuals with short stature Journal of Medical Genetics ·Céline Huber, (unknown), (unknown), (unknown)	2006	111
7	A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis The American Journal of Human Genetics ·Sara Benito‐Sanz, N. Simon Thomas, Céline Huber, Darya Gorbenko del Blanco, Miriam Aza‐Carmona, John A. Crolla, V.K. Maloney, Jesús Argente, Ángel Campos‐Barros, Valérie Cormier‐Daire, Karen E. Heath	2005	98
8	XYLT1 Mutations in Desbuquois Dysplasia Type 2 The American Journal of Human Genetics ·Catherine Bui, Céline Huber, Beyhan Tüysüz, Yasemin Alanay, Christine Bôle‐Feysot, Jules G. Leroy, Geert Mortier, Patrick Nitschké, Arnold Münnich, Valérie Cormier‐Daire	2014	83
9	The RNA-Binding Properties of SMN: Deletion Analysis of the Zebrafish Orthologue Defines Domains Conserved in Evolution Human Molecular Genetics ·Solange Bertrandy, P Burlet, Olivier Clermont, Céline Huber, Christian Fondrat, Danielle Thierry‐Mieg, Arnold Münnich, S. Lefebvre	1999	77
10	WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia The American Journal of Human Genetics ·Céline Huber, Sulin Wu, Ashley S. Kim, Sabine Sigaudy, Anna Sarukhanov, Valérie Serre, Geneviève Baujat, Kim‐Hanh Le Quan Sang, David L. Rimoin, Daniel H. Cohn, Arnold Münnich, Deborah Krakow, Valérie Cormier‐Daire	2013	58
11	FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta Journal of Medical Genetics ·Mathilde Doyard, Séverine Bacrot, Céline Huber, Maja Di Rocco, Alice Goldenberg, Mona Aglan, Perrine Brunelle, Samia A. Temtamy, Caroline Michot, Ghada A. Otaify, Coralie Haudry, Mireille Castanet, J. Leroux, Jean‐Paul Bonnefont, Arnold Münnich, Geneviève Baujat, Pablo Lapunzina, Sophie Monnot, Víctor L. Ruiz‐Pérez, Valérie Cormier‐Daire	2018	55
12	Genotypes and Phenotypes of Children with SHOX Deficiency in France The Journal of Clinical Endocrinology & Metabolism ·Myriam Rosilio, Céline Huber, Hélène Sapin, Jean‐Claude Carel, Werner Blum, Valérie Cormier‐Daire	2012	53
13	Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum Journal of Medical Genetics ·Denise Pontes Cavalcanti, Céline Huber, Kim‐Hanh Le Quan Sang, Geneviève Baujat, Felicity Collins, Anne‐Lise Delezoide, Nathalie Dagoneau, Martine Le Merrer, Jéléna Martinovic, M. F. S. Mello, Michel Vekemans, Arnold Munnich, Valérie Cormier‐Daire	2009	53
14	Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes The American Journal of Human Genetics ·Nathalie Dagoneau, Samuel Bellais, Patricia Blanchet, P. Sardá, L.I. Al-Gazali, (unknown), Céline Huber, Fatima Djouadi, Carine Le Goff, Arnold Münnich, Valérie Cormier‐Daire	2007	50
15	The 3M syndrome Best Practice & Research Clinical Endocrinology & Metabolism ·Céline Huber, Arnold Münnich, Valérie Cormier‐Daire	2011	44
16	Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta Journal of Bone and Mineral Research ·Johanne Dubail, Perrine Brunelle, Geneviève Baujat, Céline Huber, Mathilde Doyard, Caroline Michot, Pascale Chavassieux, Abdeslam Khairouni, Vicken Topouchian, Sophie Monnot, Eugénie Koumakis, Valérie Cormier‐Daire	2020	42
17	Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia The American Journal of Human Genetics ·Céline Huber, Eissa Faqeih, Deborah Bartholdi, Christine Bôle‐Feysot, Zvi Borochowitz, Denise P. Cavalcanti, Amandine Frigo, Patrick Nitschké, J. Roume, Heloísa G. dos Santos, Stavit Shalev, Andrea Superti‐Furga, Anne‐Lise Delezoide, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire	2012	41
18	Mutations inSNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome Human Mutation ·Séverine Bacrot, Mathilde Doyard, Céline Huber, Olivier Alibeu, Niklas Feldhahn, Daphné Lehalle, Didier Lacombe, Sandrine Marlin, Patrick Nitschké, Florence Petit, Marie‐Paule Vazquez, Arnold Münnich, Valérie Cormier‐Daire	2014	38
19	Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification Matrix Biology ·Chiara Paganini, Luca Monti, Rossella Costantini, Roberta Besio, Silvia Lecci, Marco Biggiogera, Kun Tian, Jean‐Marc Schwartz, Céline Huber, Valérie Cormier‐Daire, Beth Gibson, Katarzyna A. Piróg, Antonella Forlino, Antonio Rossi	2018	35
20	OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels Human Mutation ·Céline Huber, MÃ©lanie Fradin, Thomas Édouard, Martine Le Merrer, Yasemin Alanay, Daniela Bezerra Da Silva, Albert David, Hanan Hamamy, Liselotte van Hest, Allan M. Lund, Jacques L. Michaud, Christine Oley, Chirag Patel, Anna Rajab, David Skidmore, Helen Stewart, M. Tauber, Arnold Münnich, Valérie Cormier‐Daire	2009	32

About Céline Huber

Céline Huber is a scholar working on Genetics, Molecular Biology, Cell Biology, Rheumatology and Pulmonary and Respiratory Medicine, having authored 50 papers that have together received 1.9k indexed citations. Recurring topics across this work include Connective tissue disorders research (12 papers), Genetic and Kidney Cyst Diseases (9 papers), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (7 papers), Ubiquitin and proteasome pathways (5 papers), Proteoglycans and glycosaminoglycans research (5 papers), Medical Imaging and Pathology Studies (5 papers), Neurogenetic and Muscular Disorders Research (4 papers) and Genetic Syndromes and Imprinting (4 papers). The work is most often cited by research in Genetics (1.1k citations), Genetics (246 citations), Molecular Biology (1.1k citations), Cell Biology (244 citations) and Cancer Research (131 citations). Céline Huber has collaborated with scholars based in France, United Kingdom and United States. Frequent co-authors include Valérie Cormier‐Daire, Arnold Münnich, Nathalie Dagoneau, Geneviève Baujat, Laurence Legeai‐Mallet, Martine Le Merrer, S. Lefebvre, Olivier Clermont, Jéléna Martinovic and Solange Bertrandy. Their work appears in journals such as The American Journal of Human Genetics, Journal of Medical Genetics, Journal of Bone and Mineral Research, European Journal of Medical Genetics and Human Mutation.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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