Pascale Saugier-Véber

6.4k total citations
82 papers, 2.3k citations indexed

About

Pascale Saugier-Véber is a scholar working on Molecular Biology, Genetics and Genetics. According to data from OpenAlex, Pascale Saugier-Véber has authored 82 papers receiving a total of 2.3k indexed citations (citations by other indexed papers that have themselves been cited), including 43 papers in Molecular Biology, 36 papers in Genetics and 14 papers in Genetics. Recurrent topics in Pascale Saugier-Véber's work include Genomic variations and chromosomal abnormalities (17 papers), Neurogenetic and Muscular Disorders Research (12 papers) and RNA modifications and cancer (12 papers). Pascale Saugier-Véber is often cited by papers focused on Genomic variations and chromosomal abnormalities (17 papers), Neurogenetic and Muscular Disorders Research (12 papers) and RNA modifications and cancer (12 papers). Pascale Saugier-Véber collaborates with scholars based in France, United States and Italy. Pascale Saugier-Véber's co-authors include Thierry Frébourg, Dominique Bonneau, Arnold Münnich, Odile Boespflug‐Tanguy, Jean‐Michel Rozet, Roger Gil, Martine Le Merrer, Annie Laquerrière, Stéphane Marret and Annick Toutain and has published in prestigious journals such as New England Journal of Medicine, Nature Genetics and PLoS ONE.

In The Last Decade

Pascale Saugier-Véber

78 papers receiving 2.2k citations

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name h Career Trend Papers Cites
Pascale Saugier-Véber France 28 1.1k 672 437 413 267 82 2.3k
Gaëtan Lesca France 33 1.2k 1.1× 1.0k 1.5× 610 1.4× 920 2.2× 173 0.6× 160 3.4k
Tayfun Özçelık Türkiye 30 1.5k 1.3× 859 1.3× 541 1.2× 107 0.3× 225 0.8× 59 3.1k
Patrick Calvas France 31 2.1k 1.9× 1.4k 2.1× 346 0.8× 203 0.5× 151 0.6× 104 3.9k
Roberta Biancheri Italy 31 1.3k 1.1× 377 0.6× 350 0.8× 106 0.3× 308 1.2× 100 2.5k
Martin J. Somerville Canada 23 767 0.7× 640 1.0× 167 0.4× 192 0.5× 208 0.8× 45 1.8k
Julie A. Siegenthaler United States 28 1.2k 1.1× 331 0.5× 515 1.2× 132 0.3× 243 0.9× 50 2.4k
Göknur Haliloğlu Türkiye 23 922 0.8× 259 0.4× 224 0.5× 236 0.6× 150 0.6× 116 1.7k
Kaya Bilgüvar United States 27 992 0.9× 532 0.8× 217 0.5× 122 0.3× 128 0.5× 78 2.0k
Gabriella Restagno Italy 28 1.1k 0.9× 305 0.5× 269 0.6× 701 1.7× 238 0.9× 81 2.5k
Byung Chan Lim South Korea 23 750 0.7× 436 0.6× 244 0.6× 176 0.4× 375 1.4× 165 1.8k

Countries citing papers authored by Pascale Saugier-Véber

Since Specialization
Citations

This map shows the geographic impact of Pascale Saugier-Véber'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 Pascale Saugier-Véber with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Pascale Saugier-Véber more than expected).

Fields of papers citing papers by Pascale Saugier-Véber

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Pascale Saugier-Véber. 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 Pascale Saugier-Véber. The network helps show where Pascale Saugier-Véber may publish in the future.

Co-authorship network of co-authors of Pascale Saugier-Véber

This figure shows the co-authorship network connecting the top 25 collaborators of Pascale Saugier-Véber. A scholar is included among the top collaborators of Pascale Saugier-Véber based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Pascale Saugier-Véber. Pascale Saugier-Véber is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Grimaldi‐Bensouda, Lamiae, Céline Tard, Pascale Saugier-Véber, et al.. (2025). REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France. Journal of Neuromuscular Diseases. 12(6). 793–803.
2.
Blasco, Laura Campello, Marta Codina‐Solà, Pascale Saugier-Véber, et al.. (2024). Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy. Neurology Genetics. 10(4). e200175–e200175. 4 indexed citations
3.
Lecoquierre, François, Olivier Quenez, Sophie Coutant, et al.. (2023). High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders. Human Genetics. 142(6). 773–783. 4 indexed citations
4.
Dabaj, Ivana, François Lecoquierre, Kimiyo Raymond, et al.. (2021). NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation. Life. 11(3). 187–187. 14 indexed citations
5.
Marguet, Florent, Myriam Vézain, Pascale Marcorelles, et al.. (2021). Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants. Acta Neuropathologica Communications. 9(1). 104–104. 15 indexed citations
6.
Oakley, Laura, Matthew Byrne, Zuzana Nichtová, et al.. (2018). Murine MPDZ ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus. EMBO Molecular Medicine. 11(1). 28 indexed citations
7.
Gaildrat, Pascaline, Saïd Lebbah, Abdellah Tebani, et al.. (2017). Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants. Molecular Genetics & Genomic Medicine. 5(4). 373–389. 19 indexed citations
8.
Couturier, Aude, Pascale Saugier-Véber, Jean‐Claude Carel, Jérôme Bertherat, & Antoine P. Brézin. (2015). Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1. Cornea. 34(9). 1086–1091. 3 indexed citations
9.
Riant, Florence, Michaelle Cécillon, Pascale Saugier-Véber, & Elisabeth Tournier‐Lasserve. (2013). CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions. Neurogenetics. 14(2). 133–141. 44 indexed citations
10.
Proust-Lemoine, Emmanuelle, Pascale Saugier-Véber, & Jean-Louis Wémeau. (2012). Polyglandular Autoimmune Syndrome Type I. La Presse Médicale. 41(12). e651–e662. 27 indexed citations
11.
Huin, Vincent, Nathalie Drouot, Pascal Chambon, et al.. (2011). Development of a Nonfluorescent Multiplex Semiquantitative Polymerase Chain Reaction to Confirm Rearrangements Detected by Array-Comparative Genomic Hybridization. Genetic Testing and Molecular Biomarkers. 15(7-8). 469–474. 1 indexed citations
12.
Proust-Lemoine, Emmanuelle, Pascale Saugier-Véber, D. Lefranc, et al.. (2010). Autoimmune Polyendocrine Syndrome Type 1 in North-Western France: <i>AIRE</i> Gene Mutation Specificities and Severe Forms Needing Immunosuppressive Therapies. Hormone Research in Paediatrics. 74(4). 275–284. 28 indexed citations
13.
Lecourtois, Magalie, Karine Poirier, Gaëlle Friocourt, et al.. (2010). Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. Acta Neuropathologica. 119(6). 779–789. 39 indexed citations
14.
Proust-Lemoine, Emmanuelle, Pascale Saugier-Véber, Hervé Lefèbvre, et al.. (2010). Polyendocrinopathies auto-immunes de type 1. Archives de Pédiatrie. 17(6). 597–598. 3 indexed citations
15.
Vitte, Jérémie, Coralie Fassier, Francesco Danilo Tiziano, et al.. (2007). Refined Characterization of the Expression and Stability of the SMN Gene Products. American Journal Of Pathology. 171(4). 1269–1280. 87 indexed citations
16.
Vézain, Myriam, Pascale Saugier-Véber, Judith Melki, et al.. (2007). A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy. European Journal of Human Genetics. 15(10). 1054–1062. 32 indexed citations
17.
Saugier-Véber, Pascale, Alice Goldenberg, Valérie Drouin‐Garraud, et al.. (2006). Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation. European Journal of Human Genetics. 14(9). 1009–1017. 27 indexed citations
18.
Lequerré, Thierry, et al.. (2006). A cryopyrin-associated periodic syndrome with joint destruction. Lara D. Veeken. 46(4). 709–714. 37 indexed citations
19.
Saugier-Véber, Pascale, et al.. (2001). Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. European Journal of Endocrinology. 144(4). 347–351. 39 indexed citations
20.
Saugier-Véber, Pascale, Arnold Münnich, Dominique Bonneau, et al.. (1994). X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus. Nature Genetics. 6(3). 257–262. 262 indexed citations

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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