Patrick Edery

10.8k total citations · 1 hit paper
117 papers, 4.5k citations indexed

About

Patrick Edery is a scholar working on Genetics, Molecular Biology and Surgery. According to data from OpenAlex, Patrick Edery has authored 117 papers receiving a total of 4.5k indexed citations (citations by other indexed papers that have themselves been cited), including 68 papers in Genetics, 62 papers in Molecular Biology and 26 papers in Surgery. Recurrent topics in Patrick Edery's work include Genomic variations and chromosomal abnormalities (37 papers), Genetics and Neurodevelopmental Disorders (28 papers) and Congenital gastrointestinal and neural anomalies (18 papers). Patrick Edery is often cited by papers focused on Genomic variations and chromosomal abnormalities (37 papers), Genetics and Neurodevelopmental Disorders (28 papers) and Congenital gastrointestinal and neural anomalies (18 papers). Patrick Edery collaborates with scholars based in France, United States and United Kingdom. Patrick Edery's co-authors include Arnold Münnich, Stanislas Lyonnet, Anna Pelet, Damien Sanlaville, Lois M. Mulligan, Audrey Labalme, Claire Nihoul‐Feketé, Jeanne Amiel, Charis Eng and Tania Attié‐Bitach and has published in prestigious journals such as Nature, Science and The Lancet.

In The Last Decade

Patrick Edery

112 papers receiving 4.3k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Mutations of the RET proto-oncogene in Hirschsprung's disease

1994 540 citations Patrick Edery, Stanislas Lyonnet et al. profile →

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
Patrick Edery France	33	2.4k	1.6k	1.2k	326	304	117	4.5k
Marco Seri Italy	38	2.3k 0.9×	1.4k 0.9×	1.1k 0.9×	323 1.0×	463 1.5×	193	5.3k
Guillermo Antiñolo Spain	30	2.0k 0.8×	792 0.5×	913 0.7×	253 0.8×	261 0.9×	179	3.3k
Marcella Devoto Italy	45	2.7k 1.1×	1.8k 1.2×	1.1k 0.9×	369 1.1×	477 1.6×	161	6.6k
Rumiko Matsuoka Japan	39	4.6k 1.9×	1.2k 0.7×	1.0k 0.8×	222 0.7×	304 1.0×	130	6.7k
Shouhong Xuan United States	24	2.5k 1.0×	1.3k 0.8×	1.7k 1.3×	210 0.6×	242 0.8×	32	4.4k
Carla Rosenberg Brazil	38	2.8k 1.2×	2.3k 1.5×	789 0.6×	341 1.0×	313 1.0×	183	5.7k
Stephen P. Robertson New Zealand	38	2.8k 1.2×	2.2k 1.4×	547 0.4×	680 2.1×	477 1.6×	152	5.3k
Murat Günel United States	43	2.5k 1.0×	982 0.6×	480 0.4×	482 1.5×	563 1.9×	135	6.6k
Annick Toutain France	36	2.5k 1.0×	1.5k 0.9×	455 0.4×	343 1.1×	469 1.5×	138	4.0k
Dieter Egli United States	32	3.3k 1.4×	1.0k 0.6×	810 0.7×	176 0.5×	157 0.5×	71	4.2k

Countries citing papers authored by Patrick Edery

Since Specialization

Citations

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

Fields of papers citing papers by Patrick Edery

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Patrick Edery. 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 Patrick Edery. The network helps show where Patrick Edery may publish in the future.

Co-authorship network of co-authors of Patrick Edery

This figure shows the co-authorship network connecting the top 25 collaborators of Patrick Edery. A scholar is included among the top collaborators of Patrick Edery 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 Patrick Edery. Patrick Edery is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Quēlin, Chloé, Laurent Pasquier, Philippe Loget, et al.. (2023). PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect. European Journal of Medical Genetics. 66(11). 104852–104852.

Quartier, Angélique, Nathalie Drouot, Damien Plassard, et al.. (2023). Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome. Molecular Psychiatry. 29(2). 287–296. 4 indexed citations

Hanna, Nadine, Sophie Dupuis‐Girod, Marianne Till, et al.. (2020). A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism. Cytogenetic and Genome Research. 160(2). 72–79.

Benoit‐Pilven, Clara, Audrey Putoux, Amandine Campan-Fournier, et al.. (2019). New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients. RNA. 25(9). 1130–1149. 26 indexed citations

Poulat, Anne‐Lise, Nicolas Chatron, Audrey Labalme, et al.. (2019). Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism. Molecular Genetics and Metabolism Reports. 21. 100509–100509. 6 indexed citations

Labalme, Audrey, Marianne Till, Gérald Bussy, et al.. (2018). Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations. Clinical Case Reports. 6(5). 827–834. 3 indexed citations

Louvrier, Camille, Audrey Labalme, Vincent des Portes, et al.. (2015). Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7. Cytogenetic and Genome Research. 147(2-3). 111–117. 14 indexed citations

Pons, Linda, Audrey Labalme, Marianne Till, et al.. (2014). A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion. American Journal of Medical Genetics Part A. 167(1). 164–168. 35 indexed citations

Dupuis‐Girod, Sophie, Évelyne Decullier, Géraldine Samson, et al.. (2014). ELLIPSE Study. mAbs. 6(3). 793–798. 39 indexed citations

10.

Boutry‐Kryza, Nadia, Audrey Labalme, Dorothée Ville, et al.. (2014). Molecular characterization of a cohort of 73 patients with infantile spasms syndrome. European Journal of Medical Genetics. 58(2). 51–58. 51 indexed citations

11.

Lesca, Gaëtan, Marie‐Pierre Moizard, Gérald Bussy, et al.. (2013). Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. American Journal of Medical Genetics Part A. 161(12). 3063–3071. 30 indexed citations

12.

Allou, Lila, Laëtitia Lambert, Daniel Amsallem, et al.. (2012). 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. European Journal of Human Genetics. 20(12). 1216–1223. 50 indexed citations

13.

Rossi, Massimiliano, Audrey Labalme, Marie‐Pierre Cordier, et al.. (2012). Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report. American Journal of Medical Genetics Part A. 158A(12). 3174–3181. 10 indexed citations

14.

Edery, Patrick, Charles Marcaillou, Mourad Sahbatou, et al.. (2011). Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA. Science. 332(6026). 240–243. 159 indexed citations

15.

Schluth‐Bolard, Caroline, Damien Sanlaville, Audrey Labalme, et al.. (2010). 17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor. American Journal of Medical Genetics Part A. 152A(5). 1278–1282. 29 indexed citations

16.

Schluth‐Bolard, Caroline, Marianne Till, Patrick Edery, & Damien Sanlaville. (2008). Syndromes chromosomiques émergents. Pathologie Biologie. 56(6). 380–387. 3 indexed citations

17.

Lesca, Gaëtan, Virginie Bernard, Muriel Bozon, et al.. (2007). Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation. European Journal of Medical Genetics. 50(3). 200–208. 5 indexed citations

18.

Leutenegger, Anne‐Louise, Audrey Labalme, Emmanuelle Génin, et al.. (2006). Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome. The American Journal of Human Genetics. 79(1). 62–66. 35 indexed citations

19.

Vérot, Lucie, Nicole Alloisio, Laurette Morlé, et al.. (2003). Localization of a non‐syndromic X‐linked mental retardation gene (MRX80) to Xq22‐q24. American Journal of Medical Genetics Part A. 122A(1). 37–41. 5 indexed citations

20.

Pelet, Anna, Olivier Geneste, Patrick Edery, et al.. (1998). Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.. Journal of Clinical Investigation. 101(6). 1415–1423. 83 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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