Arthur Sorlin

1.5k total citations
23 papers, 224 citations indexed

About

Arthur Sorlin is a scholar working on Molecular Biology, Genetics and Pathology and Forensic Medicine. According to data from OpenAlex, Arthur Sorlin has authored 23 papers receiving a total of 224 indexed citations (citations by other indexed papers that have themselves been cited), including 14 papers in Molecular Biology, 13 papers in Genetics and 4 papers in Pathology and Forensic Medicine. Recurrent topics in Arthur Sorlin's work include Genomics and Rare Diseases (4 papers), Genomic variations and chromosomal abnormalities (4 papers) and Genetic Syndromes and Imprinting (3 papers). Arthur Sorlin is often cited by papers focused on Genomics and Rare Diseases (4 papers), Genomic variations and chromosomal abnormalities (4 papers) and Genetic Syndromes and Imprinting (3 papers). Arthur Sorlin collaborates with scholars based in France, Switzerland and Luxembourg. Arthur Sorlin's co-authors include Laurence Faivre, Christophe Philippe, G. Weryha, Frédéric Tran Mau‐Them, Christel Thauvin‐Robinet, Thomas Cuny, Paul Kuentz, Yannis Duffourd, P. Journeau and Bruno Leheup and has published in prestigious journals such as Nature Communications, The EMBO Journal and Journal of Bone and Mineral Research.

In The Last Decade

Arthur Sorlin

23 papers receiving 222 citations

Peers

Arthur Sorlin
Alexander Ing United States
Gundula Povysil United States
Amber Begtrup United States
Arthur Sorlin
Citations per year, relative to Arthur Sorlin Arthur Sorlin (= 1×) peers Yuval Yogev

Countries citing papers authored by Arthur Sorlin

Since Specialization
Citations

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

Fields of papers citing papers by Arthur Sorlin

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Arthur Sorlin

This figure shows the co-authorship network connecting the top 25 collaborators of Arthur Sorlin. A scholar is included among the top collaborators of Arthur Sorlin 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 Arthur Sorlin. Arthur Sorlin 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.
Kuentz, Paul, Rachida Tacine, Marie Vincent, et al.. (2025). A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome. Nature Communications. 16(1). 1751–1751. 2 indexed citations
2.
Sorlin, Arthur, et al.. (2025). Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome. Frontiers in Pediatrics. 13. 1475143–1475143. 1 indexed citations
3.
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
4.
Theiler, Martin, Lisa Weibel, Stéphanie Christen‐Zaech, et al.. (2021). Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations. Journal of the European Academy of Dermatology and Venereology. 35(10). 2085–2090. 4 indexed citations
5.
Mau‐Them, Frédéric Tran, Yannis Duffourd, Antonio Vitobello, et al.. (2021). Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases. Molecular Genetics & Genomic Medicine. 9(12). e1836–e1836. 4 indexed citations
6.
Carmignac, Virginie, Arthur Sorlin, Yannis Duffourd, et al.. (2021). Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway. Ultrasound in Obstetrics and Gynecology. 59(4). 532–542. 7 indexed citations
7.
Agopiantz, Mikaël, Arthur Sorlin, P. Vabres, et al.. (2021). Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review. Journal of Gynecology Obstetrics and Human Reproduction. 50(9). 102171–102171. 2 indexed citations
8.
Delplancq, Geoffroy, Antonio Vitobello, Sophie Nambot, et al.. (2020). Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes. American Journal of Medical Genetics Part C Seminars in Medical Genetics. 184(1). 129–135. 15 indexed citations
9.
Bruel, Ange‐Line, Antonio Vitobello, Frédéric Tran Mau‐Them, et al.. (2020). Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability. Clinical Genetics. 98(5). 433–444. 11 indexed citations
10.
Bertacchi, Michele, Agnès Loubat, Frédéric Tran Mau‐Them, et al.. (2020). NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients. The EMBO Journal. 39(13). e104163–e104163. 42 indexed citations
11.
Guibaud, Laurent, Alexis Arzimanoglou, Arthur Sorlin, et al.. (2020). Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation. European Journal of Medical Genetics. 63(11). 104036–104036. 7 indexed citations
12.
Bris, Céline, Vincent Procaccio, Patrizia Amati‐Bonneau, et al.. (2019). Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light. Human Mutation. 40(12). 2430–2443. 7 indexed citations
13.
Lecoquierre, François, Yannis Duffourd, Antonio Vitobello, et al.. (2019). Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants. Genetics in Medicine. 21(11). 2504–2511. 20 indexed citations
14.
Kuentz, Paul, Virginie Carmignac, Arthur Sorlin, et al.. (2019). First prenatal PI3K-AKT-mTOR pathway related overgrowth spectrum cohort: Phenotypic and molecular characterization. European Journal of Obstetrics & Gynecology and Reproductive Biology. 234. e169–e169. 1 indexed citations
15.
Sorlin, Arthur, Mylène Valduga, Mylène Béri‐Dexheimer, et al.. (2019). Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity. Frontiers in Immunology. 10. 1871–1871. 4 indexed citations
16.
Khattabi, Laïla El, S. Brun, Paul Guéguen, et al.. (2018). Performance of semiconductor sequencing platform for non‐invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting. Ultrasound in Obstetrics and Gynecology. 54(2). 246–254. 6 indexed citations
17.
Agopiantz, Mikaël, P. Journeau, Arthur Sorlin, et al.. (2016). McCune–Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases. Annales d Endocrinologie. 77(1). 7–13. 7 indexed citations
18.
Kuentz, Paul, Yannis Duffourd, Judith St‐Onge, et al.. (2016). 186 Mutational spectrum in PIK3CA -Related Overgrowth Spectrum (PROS) and recommendations for molecular testing. Journal of Investigative Dermatology. 136(9). S192–S192. 1 indexed citations
19.
Sorlin, Arthur, Gilbert Briand, David Cheillan, et al.. (2016). Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency. Neuropediatrics. 47(3). 179–181. 4 indexed citations
20.
Agopiantz, Mikaël, Arthur Sorlin, Céline Bonnet, et al.. (2014). Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. Journal of Endocrinological Investigation. 37(1). 1–7. 28 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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